1,111 results match your criteria BMC Proceedings [Journal]


Prevention and control of HPV infection and HPV-related cancers in Colombia- a meeting report.

BMC Proc 2020 22;14(Suppl 9). Epub 2020 Jun 22.

Instituto Nacional de Cancerología, Bogota, Colombia.

The Human Papillomavirus (HPV) Prevention and Control Board is an independent multidisciplinary board of international experts that disseminates relevant information on HPV to a broad array of stakeholders and provides guidance on strategic, technical and policy issues in the implementation of HPV control programs. In response to drastic drop of vaccine coverage following the adverse event crisis in Carmen del Bolivar, Colombia, the HPV Prevention and Control Board in collaboration with the Colombian National Cancer Institute and Colombian League Against Cancer convened a meeting in Bogota, Columbia (November 2018). The goal of the meeting was to bring together national and international group of experts to report the disease burden, epidemiology and surveillance of HPV and HPV-related cancers, to discuss the successes and especially the challenges of HPV vaccination and screening in Colombia, as well as the lessons learnt from neighbouring countries. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-020-00192-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7307134PMC

Proceedings of the 4 BEAT-PCD Conference and 5 PCD Training School.

BMC Proc 2020 19;14(Suppl 8). Epub 2020 Jun 19.

Primary Ciliary Dyskinesia Centre, Royal Brompton Hospital, Sydney Street, London, UK.

Primary ciliary dyskinesia (PCD) is an inherited ciliopathy leading to chronic suppurative lung disease, chronic rhinosinusitis, middle ear disease, sub-fertility and abnormalities. As PCD is rare, it is important that scientists and clinicians foster international collaborations to share expertise in order to provide the best possible diagnostic and management strategies. 'Better Experimental Approaches to Treat Primary Ciliary Dyskinesia' (BEAT-PCD) is a multidisciplinary network funded by EU COST Action (BM1407) to coordinate innovative basic science and clinical research from across the world to drive advances in the field. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-020-00191-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304082PMC

Leveraging implementation science to reduce inequities in Children's mental health care: highlights from a multidisciplinary international colloquium.

BMC Proc 2020 6;14(Suppl 2). Epub 2020 Apr 6.

Child and Adolescent Services Research Center, San Diego, CA 92123 USA.

Background And Purpose: Access to evidence-based mental health care for children is an international priority. However, there are significant challenges to advancing this public health priority in an efficient and equitable manner. The purpose of this international colloquium was to convene a multidisciplinary group of health researchers to build an agenda for addressing disparities in mental health care access and treatment for children and families through collaboration among scholars from the United States and Europe engaged in innovative implementation science and mental health services research. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-020-00184-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7132860PMC

Evidence-based policy making for health promotion to reduce the burden of non-communicable diseases in Moldova.

BMC Proc 2020 6;14(Suppl 1). Epub 2020 Mar 6.

1Swiss Tropical and Public Health Institute, P.O. Box, CH-4002 Basel, Switzerland.

The Republic of Moldova faces several concurrent health challenges most notably an increase in chronic non-communicable diseases, spiralling health care costs and widening health inequalities. To accelerate progress in their resolution there is a need for new and innovative health promotion and behaviour change communication interventions. The Ministry of Health, Labour and Social Protection in collaboration with the newly created National Agency for Public Health held a conference on the occasion of the on 14th March 2018 in which national and invited international experts exchanged their views on (1) best practice examples of behaviour change interventions, health promotion activities and lessons learned from the UK and elsewhere; and (2) possible ways forward for Moldova to implement cost-effective and evidence-based intersectoral health promotion programmes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-020-0183-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7059653PMC

Use of air stacking to improve pulmonary function in Indonesian Duchenne muscular dystrophy patients: bridging the standard of care gap in low middle income country setting.

BMC Proc 2019 16;13(Suppl 11):21. Epub 2019 Dec 16.

3Department of Child Health, Faculty of Medicine, Public Health and Nursing, Dr. Sardjito Hospital, Universitas Gadjah Mada, Yogyakarta, Indonesia.

Background: Duchenne Muscular Dystrophy (DMD) is a fatal X-linked recessive neuromuscular disease, characterized by progressive loss of muscle strength. Respiratory failure is the main cause of morbidity and mortality in DMD patients. Respiratory devices have been reported to increase the effectiveness of cough and pulmonary function, thus prolong the survival rate. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-019-0179-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912939PMC
December 2019

Biofilm formation and antibiotic resistance of isolated from clinical samples in a tertiary care hospital, Klaten, Indonesia.

BMC Proc 2019 16;13(Suppl 11):20. Epub 2019 Dec 16.

1Department of Microbiology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, 55281 Indonesia.

Background: is a common cause of health-care associated infections (HAIs) and has high levels of antibiotic resistance. These bacteria are well-known for their ability to produce biofilm. The purpose of this study was to identify the antibiotic resistance pattern and biofilm-producing capacity of isolated from clinical samples in a tertiary care hospital in Klaten, Indonesia. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-019-0176-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913045PMC
December 2019

The 1-monolaurin inhibit growth and eradicate the biofilm formed by clinical isolates of .

BMC Proc 2019 16;13(Suppl 11):19. Epub 2019 Dec 16.

2Departement of Pharmacology and Therapy Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.

Background: Biofilm is one of the causes of antibiotic resistance. One of the biofilm-producing bacteria is which has been proven to infect long-term users of urinary catheters and implant devices. The 1-monolaurin compound has been known to have an antimicrobial effect. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-019-0174-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912935PMC
December 2019

Risk factors of preoperative Hirschsprung-associated enterocolitis.

BMC Proc 2019 16;13(Suppl 11):18. Epub 2019 Dec 16.

Pediatric Surgery Division, Department of Surgery, Faculty of Medicine, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, 55281 Indonesia.

Background: Hirschsprung-associated enterocolitis (HAEC) is a life-threatening complication of Hirschsprung disease (HSCR), that might occur preoperatively. We investigated the risk factors of preoperative HAEC.

Method: We retrospectively reviewed all medical records of HSCR patients admitted at Dr. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-019-0172-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912936PMC
December 2019

Heparanase upregulation from adipocyte associates with inflammation and endothelial injury in diabetic condition.

BMC Proc 2019 16;13(Suppl 11):17. Epub 2019 Dec 16.

Department of Anatomy, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.

Background: Diabetes Mellitus (DM) is one of the metabolic diseases which leads to fatty tissue injury, and consequently inducing lipotoxicity and cellular senescence. This condition contributes to endothelial dysfunction with chronic inflammation and organ damage. Heparanase which has a role in disrupting endothelial surface layer (glycocalyx) may promote endothelial Nitric oxide synthase (eNOS) reduction and inflammation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-019-0181-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912933PMC
December 2019

Outcome of adult congenital heart disease patients undergoing cardiac surgery: clinical experience of dr. Sardjito hospital.

BMC Proc 2019 16;13(Suppl 11):16. Epub 2019 Dec 16.

Department of Anesthesiology and Intensive Care, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.

Background: Patients with congenital heart disease require surgery to correct the cardiac defect they had in order to prevent heart failure. Unfortunately, data regarding outcome of adult CHD in Indonesia is still limited. In contrast with developed countries, many congenital heart surgery patients in developing countries are adults. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-019-0178-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913046PMC
December 2019

Low BRAF V600 mutation prevalence in primary skin nodular melanoma in Indonesia: a real-time PCR detection among Javanese patients.

BMC Proc 2019 16;13(Suppl 11):15. Epub 2019 Dec 16.

1Department of Anatomical Pathology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/ Dr. Sardjito Hospital, Radiopoetro Building, 4th Floor, Farmako Street, Sekip Utara, Sinduadi, Mlati, Sleman, Yogyakarta, 55281 Indonesia.

Background: Cutaneous melanoma is a rare, aggressive skin malignancy with a high mortality rate. Although only contributing 7.6% of the cases worldwide, Asia is responsible for 18. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-019-0175-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913044PMC
December 2019

The effect of 5α-oleandrin on keloid fibroblast activities.

BMC Proc 2019 16;13(Suppl 11):14. Epub 2019 Dec 16.

6Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/ Sardjito-Hospital, North Sekip, Yogyakarta, Indonesia.

Background: Keloids develop due to hyperactivity of keloid fibroblast (KF) in proliferation, migration, and collagen deposition along with low rates of collagen degradation. These are a result of the Wnt/β catenin signaling pathways under stimulation of TGF-β. 5α-oleandrin can suppress Wnt-targeted genes of osteosarcoma cells. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-019-0177-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912934PMC
December 2019

A diagnostic approach for differentiating abdominal tuberculosis from ovarian malignancy: a case series and literature review.

BMC Proc 2019 16;13(Suppl 11):13. Epub 2019 Dec 16.

Department of Obstetrics and Gynecology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Jl. Kesehatan No. 1, Yogyakarta, 55281 Indonesia.

Background: Abdominal tuberculosis is an uncommon variant of extrapulmonary tuberculosis. It accounts for 3.5% of extrapulmonary tuberculosis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-019-0180-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912930PMC
December 2019

Effect of gamma-mangostin on testosterone levels in Leydig cell culture of Sprague-Dawley rat induced by advanced glycation end products: a preliminary study.

BMC Proc 2019 16;13(Suppl 11):12. Epub 2019 Dec 16.

3Department of Pharmacology and Therapy, Faculty of Medicine, Public Health and Nursing Universitas Gadjah Mada, /Dr. Sardjito Hospital, Yogyakarta, 55281 Indonesia.

Background: Advanced glycation end products (AGE) is a toxic compound in the human body that can deteriorate health and induce an inflammatory response. One of the type of cells affected is Leydig cells, cells that produce testosterone and located in interstitial areas of the testes. Pericarp extract of contains an antioxidant compound called gamma-mangostin that can decrease inflammatory responses and toxic effects of AGE. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-019-0173-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912937PMC
December 2019

Ageing, frailty and resilience in Botswana: rapid ageing, rapid change. Findings from a national working group meeting and literature review.

BMC Proc 2019 19;13(Suppl 10). Epub 2019 Nov 19.

3Institute of Applied Health Research, University of Birmingham, Birmingham, UK.

Background: The demography of Botswana is rapidly changing. Successes in tackling communicable diseases and economic development increased life expectancy from 53.7 years in 2006 to 66. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-019-0171-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6862741PMC
November 2019

Community participation and private sector engagement are fundamental to achieving universal health coverage and health security in Africa: reflections from the second Africa health forum.

BMC Proc 2019 12;13(Suppl 9). Epub 2019 Nov 12.

2WHO Regional Office for Africa, Brazzaville, Republic of the Congo.

Background: Inadequate access to quality health care services due to weak health systems and recurrent public health emergencies are impediments to the attainment of Universal Health Coverage and health security in Africa. To discuss these challenges and deliberate on plausible solutions, the World Health Organization Regional Office for Africa, in collaboration with the Government of Cabo Verde, convened the second Africa Health Forum in Praia, Cabo Verde on 26-28 March 2019, under the theme Achieving Universal Health Coverage and Health Security: The Africa We Want to See.

Methods: The Forum was conducted through technical sessions consisting of high-level, moderated panel discussions on specific themes, some of them preceded by keynote addresses. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-019-0170-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6849158PMC
November 2019

Proceedings of the 2017 Advancing the Science of Community Engaged Research (CEnR) Conference.

BMC Proc 2019 19;13(Suppl 3). Epub 2019 Apr 19.

10Vice President for Health Equity, Vanderbilt University Medical Center, Executive Director, Meharry-Vanderbilt Alliance, 1005 Dr. D.B. Todd Jr. Boulevard, Nashville, TN 37208 USA.

Background: To address an urgent need to advance the field of community engaged research, faculty at Vanderbilt University Medical Center and Meharry Medical College organized the national meeting "Advancing the Science of Community Engaged Research (CEnR): Innovative & Effective Methods of Stakeholder Engagement in Translational Research, Washington, DC September 14-15, 2017 (See Additional file 1). These meetings brought together a diverse group of stakeholders to share community engaged research evidence and practical knowledge for implementing new and enhancing existing research programs. The conference series' goals were: 1) to expand the scientific basis for the community engaged research field by convening researchers, community partners, patient advocacy organizations, and others to share innovative methods and strategies; 2) to engage community representatives and patient advocates in the development of new approaches in community engaged research by meaningfully involving them in the planning, as speakers and presenters, and as conference participants; and 3) to catalyze innovative community engaged research using interactive meeting methods that promote learning, support collective problem solving, and encourage new conceptual frameworks. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-019-0164-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6474049PMC
April 2019
30 Reads

Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School.

BMC Proc 2018 18;12(Suppl 16):64. Epub 2018 Dec 18.

Danish PCD & Child Centre, CF Centre Copenhagen, Paediatric Pulmonary Service, ERN Accredited, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Denmark.

Primary ciliary dyskinesia (PCD) is a chronic suppurative airways disease that is usually recessively inherited and has marked clinical phenotypic heterogeneity. Classic symptoms include neonatal respiratory distress, chronic rhinitis since early childhood, chronic otitis media, recurrent airway infections leading to bronchiectasis, chronic sinusitis, laterality defects with and without congenital heart disease including abnormal situs in approximately 50% of the cases, and male infertility. Lung function deteriorates progressively from childhood throughout life. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-018-0161-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6297936PMC
December 2018
9 Reads

Cholera prevention and control in Asian countries.

BMC Proc 2018 7;12(Suppl 13):62. Epub 2018 Dec 7.

26World Health Organization, New Delhi, India.

Cholera remains a major public health problem in many countries. Poor sanitation and inappropriate clean water supply, insufficient health literacy and community mobilization, absence of national plans and cross-border collaborations are major factors impeding optimal control of cholera in endemic countries. In March 2017, a group of experts from 10 Asian cholera-prone countries that belong to the Initiative against Diarrheal and Enteric Diseases in Africa and Asia (IDEA), together with representatives from the World Health Organization, the US National Institutes of Health, International Vaccine Institute, Agence de médecine préventive, NGOs (Save the Children) and UNICEF, met in Hanoi (Vietnam) to share progress in terms of prevention and control interventions on water, sanitation and hygiene (WASH), surveillance and oral cholera vaccine use. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-018-0158-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6284268PMC
December 2018
18 Reads

Addressing challenges in children's mental health in disaster-affected areas in Japan and the Philippines - highlights of the training program by the National Center for Global Health and Medicine.

BMC Proc 2018 19;12(Suppl 14):65. Epub 2018 Dec 19.

10Department of Psychiatry, Kohondai Hospital, National Center for Global Health and Medicine, Ichikawa, Japan.

Background And Purpose: Natural disasters such as earthquakes, typhoons, floods, and volcanic eruptions frequently occur in Republic of Philippines and mental health care for children affected by these natural disasters is a major public health concern. Aiming to train health professionals on children's mental health, to conduct a situational analysis to identify the local needs and resources for children's mental health, and to propose a mental health program for children that can be transferred from Japan to the Philippines, the National Center for Global Health and Medicine (NCGM) conducted a training program for children's mental health in disaster-affected areas in Japan and the Philippines in June, October, and December, 2017. The training was organized by NCGM for the Program for International Promotion of Japan's Healthcare Technologies and Services funded by Ministry of Health, Labour, & Welfare, Japan in relation to the Memorandum of Understanding in the Field of Healthcare between NCGM in Japan and University of the Philippines Manila, College of Public Health. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-018-0159-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6299512PMC
December 2018
5 Reads

Conclusions of the digital health hub of the Transform Africa Summit (2018): strong government leadership and public-private-partnerships are key prerequisites for sustainable scale up of digital health in Africa.

BMC Proc 2018 15;12(Suppl 11):17. Epub 2018 Aug 15.

WHO Country Office, Kigali, Rwanda.

Background: The use of digital technologies to improve access to health is gaining momentum in Africa. This is more pertinent with the increasing penetration of mobile phone technology and internet use, and calls for innovative strategies to support implementation of the health-related Sustainable Development Goals and Universal Health Coverage on the continent. However, the huge potential benefits of digital health to advance health services delivery in Africa is yet to be fully harnessed due to critical challenges such as proliferation of pilot projects, poor coordination, inadequate preparedness of the African health workforce for digital health, lack of interoperability and inadequate sustainable financing, among others. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-018-0156-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117634PMC
August 2018
17 Reads

Learning best-practices in journalology: course description and attendee insights into the inaugural EQUATOR Canada Publication School.

BMC Proc 2018 23;12(Suppl 10):18. Epub 2018 Aug 23.

2Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Canada.

Background And Purpose: Dissemination of research results is a key component of the research continuum and is commonly achieved through publication in peer-reviewed academic journals. However, issues of poor quality reporting in the research literature are well documented. A lack of formal training in journalology (i. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-018-0155-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117632PMC
August 2018
33 Reads

An adaptive gene-based test for methylation data.

BMC Proc 2018 17;12(Suppl 9):60. Epub 2018 Sep 17.

Division of Biostatistics, University of Minnesota, 420 Delaware St SE, Minneapolis, MN 55455 USA.

DNA methylation plays an important role in normal human development and disease. In epigenome-wide association studies (EWAS), a univariate test for association between a phenotype and each cytosine-phosphate-guanine (CpG) site has been widely used. Given the number of CpG sites tested in EWAS, a stringent significance cutoff is required to adjust for multiple testing; in addition, multiple nearby CpG sites may be associated with the phenotype, which is ignored by a univariate test. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-018-0126-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157100PMC
September 2018
5 Reads

Identification of epistatic interactions between the human RNA demethylases FTO and ALKBH5 with gene set enrichment analysis informed by differential methylation.

BMC Proc 2018 17;12(Suppl 9):59. Epub 2018 Sep 17.

Institute for Biomedical Informatics, Richards Medical Research Laboratories, Perelman School of Medicine, University of Pennsylvania, 3700 Hamilton Walk, Philadelphia, PA 19104 USA.

The Genetic Analysis Workshop (GAW) presents an opportunity to collaboratively evaluate methodology relevant to current issues in genetic epidemiology. The GAW20 data combine real clinical trial data with fictitious epigenetic drug response endpoints. Considering the evidence suggesting that networks of interactions between many genes underlie complex phenotypes, we utilize differential methylation status to identify a relevant gene set for enrichment analysis and use this to infer potential biological function underlying drug response. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-018-0122-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157145PMC
September 2018
4 Reads

Epigenome wide association study of SNP-CpG interactions on changes in triglyceride levels after pharmaceutical intervention: a GAW20 analysis.

BMC Proc 2018 17;12(Suppl 9):58. Epub 2018 Sep 17.

2Department of Mathematics and Statistics, Dordt College, 498 4th Ave. NE, Sioux Center, IA 51250 USA.

In the search for an understanding of how genetic variation contributes to the heritability of common human disease, the potential role of epigenetic factors, such as methylation, is being explored with increasing frequency. Although standard analyses test for associations between methylation levels at individual cytosine-phosphate-guanine (CpG) sites and phenotypes of interest, some investigators have begun testing for methylation and how methylation may modulate the effects of genetic polymorphisms on phenotypes. In our analysis, we used both a genome-wide and candidate gene approach to investigate potential single-nucleotide polymorphism (SNP)-CpG interactions on changes in triglyceride levels. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-018-0144-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157099PMC
September 2018
10 Reads

Evaluation of a phenotype imputation approach using GAW20 simulated data.

BMC Proc 2018 17;12(Suppl 9):56. Epub 2018 Sep 17.

Department of Biostatistics, Boston University School of Public Health, 801 Massachusetts Ave 3rd Floor, Boston, MA 02118 USA.

Statistical power, which is the probability of correctly rejecting a false null hypothesis, is a limitation of genome-wide association studies (GWAS). Sample size is a major component of statistical power that can be easily affected by missingness in phenotypic data and restrain the ability to detect associated single-nucleotide polymorphisms (SNPs) with small effect sizes. Although some phenotypes are hard to collect because of cost and loss to follow-up, correlated phenotypes that are easily collected can be leveraged for association analysis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-018-0134-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157247PMC
September 2018
6 Reads

Genome-wide linkage scan for loci influencing plasma triglyceride levels.

BMC Proc 2018 17;12(Suppl 9):52. Epub 2018 Sep 17.

2Menzies Institute for Medical Research, University of Tasmania, 17 Liverpool Street, Hobart, TAS 7000 Australia.

We conducted a genome-wide linkage scan to detect loci that influence the levels of fasting triglycerides in plasma. Fasting triglyceride levels were available at 4 time points (visits), 2 pre- and 2 post-fenofibrate intervention. Multipoint identity-by-descent (MIBD) matrices were derived from genotypes using IBDLD. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-018-0137-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157192PMC
September 2018
14 Reads

Reliability of genomic predictions of complex human phenotypes.

BMC Proc 2018 17;12(Suppl 9):51. Epub 2018 Sep 17.

1South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, One West University Blvd. Modular Building #100, Brownsville, TX 78250 USA.

Genome-wide association studies have helped us identify a wealth of genetic variants associated with complex human phenotypes. Because most variants explain a small portion of the total phenotypic variation, however, marker-based studies remain limited in their ability to predict such phenotypes. Here, we show how modern statistical genetic techniques borrowed from animal breeding can be employed to increase the accuracy of genomic prediction of complex phenotypes and the power of genetic mapping studies. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-018-0138-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157117PMC
September 2018
32 Reads

Evaluating the performance of gene-based tests of genetic association when testing for association between methylation and change in triglyceride levels at GAW20.

BMC Proc 2018 17;12(Suppl 9):50. Epub 2018 Sep 17.

1Department of Mathematics and Statistics, Dordt College, 498 4th Ave. NE, Sioux Center, IA 51250 USA.

Although methylation data continues to rise in popularity, much is still unknown about how to best analyze methylation data in genome-wide analysis contexts. Given continuing interest in gene-based tests for next-generation sequencing data, we evaluated the performance of novel gene-based test statistics on simulated data from GAW20. Our analysis suggests that most of the gene-based tests are detecting real signals and maintaining the Type I error rate. Read More

View Article

Download full-text PDF

Source
https://bmcproc.biomedcentral.com/articles/10.1186/s12919-01
Publisher Site
http://dx.doi.org/10.1186/s12919-018-0124-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157195PMC
September 2018
4 Reads

Relating drug response to epigenetic and genetic markers using a region-based kernel score test.

BMC Proc 2018 17;12(Suppl 9):47. Epub 2018 Sep 17.

Department of Genetic Epidemiology, University Medical Center, Georg-August University Göttingen, Humboldtallee 32, 37073 Göttingen, Germany.

In GAW20, we investigated the association of specific genetic regions of interest (ROIs) with log-transformed triglyceride (TG) levels following lipid-lowering medication using epigenetic and genetic markers. The goal was to incorporate kernels for cytosine-phosphate-guanine (CpG) markers and compare the kernels to a purely parametric model. Post-treatment TG levels were investigated for post-methylation data at CpG sites and region-specific SNPs and adjusted for pre-treatment TG levels and age, in independent individuals only (real data:  = 150; simulated data, replicate 84:  = 111). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-018-0154-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157113PMC
September 2018
3 Reads

Analysis of genetic and nongenetic factors influencing triglycerides-lowering drug effects based on paired observations.

BMC Proc 2018 17;12(Suppl 9):46. Epub 2018 Sep 17.

1Department of Statistics, University of Nebraska, 340 Hardin Hall North Wing, Lincoln, NE 68588 USA.

Obesity is a risk factor for heart disease, stroke, diabetes, high blood pressure, and other chronic diseases. Some drugs, including fenofibrate, are used to treat obesity or excessive weight by lowering the level of specific triglycerides. However, different groups have different drug sensitivities and, consequently, there are differences in drug effects. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-018-0153-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157156PMC
September 2018
1 Read

An efficient analytic approach in genome-wide identification of methylation quantitative trait loci response to fenofibrate treatment.

BMC Proc 2018 17;12(Suppl 9):44. Epub 2018 Sep 17.

3Department of Biostatistics, Boston University School of Public Health, Boston University, 715 Albany St, Boston, MA 02118 USA.

Background: The study of DNA methylation quantitative trait loci (meQTLs) helps dissect regulatory mechanisms underlying genetic associations of human diseases. In this study, we conducted the first genome-wide examination of genetic drivers of methylation variation in response to a triglyceride-lowering treatment with fenofibrate (response-meQTL) by using an efficient analytic approach.

Methods: Subjects ( = 429) from the GAW20 real data set with genotype and both pre- (visit 2) and post- (visit 4) fenofibrate treatment methylation measurements were included. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-018-0152-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157188PMC
September 2018
6 Reads

Identifying fenofibrate responsive CpG sites.

BMC Proc 2018 17;12(Suppl 9):43. Epub 2018 Sep 17.

Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, 695 Charles E. Young Dr. South, Los Angeles, CA USA.

As part of GAW20, we analyzed the familiality and variability of methylation to identify cytosine-phosphate-guanine (CpG) sites responsive to treatment with fenofibrate. Methylation was measured at approximately 450,000 sites in pedigree members, prior to and after 3 weeks of treatment. Initially, we aimed to identify responsive sites by analyzing the pre- and posttreatment methylation changes within individuals, but these data exhibited a confounding treatment/batch effect. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-018-0148-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157159PMC
September 2018
4 Reads

Family-based genome-wide association of inflammation biomarkers and fenofibrate treatment response in the GOLDN study.

BMC Proc 2018 17;12(Suppl 9):41. Epub 2018 Sep 17.

Human Genetics Unit, Indian Statistical Institute, 203 B T Road, Kolkata, 700108 India.

In this paper we analyzed whole-genome genetic information provided by GAW20 from the Genetics of Lipid Lowering Drugs and Diet Network (GOLDN) study for family data. Lipid levels such as triglycerides (TGs) and high-density lipoprotein (HDL) are measured at different time points before and after administration of an anti-inflammatory drug fenofibrate. Apart from that, the data contain some covariates and whole-genome genotype information. Read More

View Article

Download full-text PDF

Source
https://bmcproc.biomedcentral.com/articles/10.1186/s12919-01
Publisher Site
http://dx.doi.org/10.1186/s12919-018-0146-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157183PMC
September 2018
10 Reads

Analysis of genotype by methylation interactions through sparsity-inducing regularized regression.

BMC Proc 2018 17;12(Suppl 9):40. Epub 2018 Sep 17.

Department of Statistics, Columbia University, 1255 Amsterdam Avenue, New York, NY 10027 USA.

In this paper, we consider the use of the least absolute shrinkage and selection operator (LASSO)-type regression techniques to detect important genetic or epigenetic loci in genome-wide association studies (GWAS) and epigenome-wide association studies (EWAS). We demonstrate how these techniques can be adapted to provide quantifiable uncertainty using stability selection, including explicit control of the family-wise error rate. We also consider variants of the LASSO, such as the group LASSO, to study genetic and epigenetic interactions. Read More

View Article

Download full-text PDF

Source
https://bmcproc.biomedcentral.com/articles/10.1186/s12919-01
Publisher Site
http://dx.doi.org/10.1186/s12919-018-0145-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157158PMC
September 2018
4 Reads

Transmission-based association mapping of triglyceride levels in a longitudinal framework using quasi-likelihood.

BMC Proc 2018 17;12(Suppl 9):39. Epub 2018 Sep 17.

Human Genetics Unit, Indian Statistical Institute, 203 BT Road, Kolkata, India.

Complex genetic traits are often characterized by multiple quantitative phenotypes. Because values of such phenotypes vary over time, it is thought that analyses of longitudinal data on the phenotypes may lead to increased power in detecting genetic association. In this paper, we extend a transmission-based association test applying quasi-likelihood that has been developed by us to the longitudinal framework and to carry out a genome-wide association analysis of triglyceride levels based on the data provided in GAW20. Read More

View Article

Download full-text PDF

Source
https://bmcproc.biomedcentral.com/articles/10.1186/s12919-01
Publisher Site
http://dx.doi.org/10.1186/s12919-018-0147-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157161PMC
September 2018
16 Reads

Using penalized regression to predict phenotype from SNP data.

BMC Proc 2018 17;12(Suppl 9):38. Epub 2018 Sep 17.

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ UK.

Background: In a typical genome-enabled prediction problem there are many more predictor variables than response variables. This prohibits the application of multiple linear regression, because the unique ordinary least squares estimators of the regression coefficients are not defined. To overcome this problem, penalized regression methods have been proposed, aiming at shrinking the coefficients toward zero. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-018-0149-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157193PMC
September 2018
5 Reads

Detection and analysis of CpG sites with multimodal DNA methylation level distributions and their relationships with SNPs.

Authors:
Ke Hu Jing Li

BMC Proc 2018 17;12(Suppl 9):36. Epub 2018 Sep 17.

Department of Electrical Engineering, Computer Science Case Western Reserve University, 10900 Euclid Ave, Cleveland, OH 44106 USA.

DNA methylation levels at cytosine-phosphate-guanine (CpG) sites with multimodal distributions among different samples have been reported recently. One possible explanation for such variability is that genetic variants might affect epigenetic variation. One obvious case is that mutations such as single-nucleotide polymorphisms (SNPs) interrupt CpG sites, resulting in different DNA methylation levels for different genotypes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-018-0141-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157119PMC
September 2018
31 Reads

Data for GAW20: genome-wide DNA sequence variation and epigenome-wide DNA methylation before and after fenofibrate treatment in a family study of metabolic phenotypes.

BMC Proc 2018 17;12(Suppl 9):35. Epub 2018 Sep 17.

5College of Public Health, University of Kentucky, 111 Washington Ave, Lexington, KY 40536 USA.

GAW20 provided participants with an opportunity to comprehensively examine genetic and epigenetic variation among related individuals in the context of drug treatment response. GAW20 used data from 188 families ( = 1105) participating in the Genetics of Lipid Lowering Drugs and Diet Network (GOLDN) study (clinicaltrials.gov identifier NCT00083369), which included CD4+ T-cell DNA methylation at 463,995 cytosine-phosphate-guanine (CpG) sites measured before and after a 3-week treatment with fenofibrate, single-nucleotide variation at 906,600 loci, metabolic syndrome components ascertained before and after the drug intervention, and relevant covariates. Read More

View Article

Download full-text PDF

Source
https://bmcproc.biomedcentral.com/articles/10.1186/s12919-01
Publisher Site
http://dx.doi.org/10.1186/s12919-018-0114-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157153PMC
September 2018
17 Reads

Genome-wide analysis in multiple-case families: assessing the relationship between triglyceride and methylation.

BMC Proc 2018 17;12(Suppl 9):33. Epub 2018 Sep 17.

2Department of Statistics, University of Leeds, Leeds, LS2 9JT UK.

The main goal of this paper is to estimate the effect of triglyceride levels on methylation of cytosine-phosphate-guanine (CpG) sites in multiple-case families. These families are selected because they have 2 or more cases of metabolic syndrome (primary phenotype). The methylations at the CpG sites are the secondary phenotypes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-018-0123-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157284PMC
September 2018
5 Reads

Evidence of batch effects masking treatment effect in GAW20 methylation data.

BMC Proc 2018 17;12(Suppl 9):32. Epub 2018 Sep 17.

2Genetics and Genome Biology Program, The Hospital for Sick Children Research Institute, 686 Bay St., Toronto, ON M5G 0A4 Canada.

Using the real data set from GAW20, we examined changes in the distribution of DNA methylation before and after treatment. Paired analysis of differences in both mean and variance had grossly inflated type 1 error, suggesting either a very large number of changes across the entire epigenome or major non-biological issues, such as batch effects. Separate analysis of Infinium I and II probes indicated differences in the paired -test statistics between these two types of probes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-018-0129-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157182PMC
September 2018
1 Read

A Bayesian mixed modeling approach for estimating heritability.

BMC Proc 2018 17;12(Suppl 9):31. Epub 2018 Sep 17.

4Oslo Centre for Biostatistics and Epidemiology, Oslo University Hospital, Klaus Torgårds vei 3, 0372 Oslo, Norway.

Background: A Bayesian mixed model approach using integrated nested Laplace approximations (INLA) allows us to construct flexible models that can account for pedigree structure. Using these models, we estimate genome-wide patterns of DNA methylation heritability ( ), which are currently not well understood, as well as of blood lipid measurements.

Methods: We included individuals from the Genetics of Lipid Lowering Drugs and Diet Network (GOLDN) study with Infinium 450 K cytosine-phosphate-guanine (CpG) methylation and blood lipid data pre- and posttreatment with fenofibrate in families with up to three-generation pedigrees. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-018-0131-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157283PMC
September 2018
42 Reads

Integrative methylation score to identify epigenetic modifications associated with lipid changes resulting from fenofibrate treatment in families.

BMC Proc 2018 17;12(Suppl 9):28. Epub 2018 Sep 17.

2National Heart, Lung, and Blood Institute's and Boston University's Framingham Heart Study, 73 Mount Wayte Avenue, Framingham, MA 01702 USA.

Epigenome-wide association studies (EWAS) have traditionally focused on the association test of single epigenetic markers with complex traits. However, it is possible that multiple cytosine-phosphate-guanine (CpG) sites at the same locus could jointly exert their effects on human traits. Therefore, a region-based test that combines multiple markers could be more powerful. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-018-0125-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157127PMC
September 2018
12 Reads

Network analysis of drug effect on triglyceride-associated DNA methylation.

BMC Proc 2018 17;12(Suppl 9):27. Epub 2018 Sep 17.

1Department of Biostatistics, Boston University, 801 Massachusetts Avenue 3rd Floor, Boston, MA 02118 USA.

Background: DNA methylation, an epigenetic modification, can be affected by environmental factors and thus regulate gene expression levels that can lead to alterations of certain phenotypes. Network analysis has been used successfully to discover gene sets that are expressed differently across multiple disease states and suggest possible pathways of disease progression. We applied this framework to compare DNA methylation levels before and after lipid-lowering medication and to identify modules that differ topologically between the two time points, revealing the association between lipid medication and these triglyceride-related methylation sites. Read More

View Article

Download full-text PDF

Source
https://bmcproc.biomedcentral.com/articles/10.1186/s12919-01
Publisher Site
http://dx.doi.org/10.1186/s12919-018-0130-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157190PMC
September 2018
22 Reads

Simulation of a medication and methylation effects on triglycerides in the Genetic Analysis Workshop 20.

BMC Proc 2018 17;12(Suppl 9):25. Epub 2018 Sep 17.

Division of Statistical Genomics, Department of Genetics and Center for Genome Sciences and Systems Biology, Washington University School of Medicine, 4523 Clayton Ave, Saint Louis, MO 63110 USA.

The GAW20 simulation data set is based upon the companion Genetics of Lipid Lowering Drugs and Diet Network (GOLDN) study fenofibrate clinical trial data set that forms the real data example for GAW20. The simulated data problem consists of 200 simulated replications of what might happen if we were to repeat the GOLDN clinical trial 200 independent times, for these exact same subjects, but using a new fictitious drug (called "genomethate") that has a pharmaco-epigenetic effect on triglyceride response. For each replication, the pre-genomethate values at visits 1 and 2 are constant (ie, pedigree structures, age, sex, all phenotypes, covariates, genome-wide association study (GWAS) genotypes, and visit 2 methylation values), the same as the real GOLDN data across all 200 replications. Read More

View Article

Download full-text PDF

Source
https://bmcproc.biomedcentral.com/articles/10.1186/s12919-01
Publisher Site
http://dx.doi.org/10.1186/s12919-018-0115-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157129PMC
September 2018
8 Reads

Disentangling associations between DNA methylation and blood lipids: a Mendelian randomization approach.

BMC Proc 2018 17;12(Suppl 9):23. Epub 2018 Sep 17.

5Department of Epidemiology, School of Public Health, University of Alabama at Birmingham, 1665 University Blvd, Birmingham, AL USA.

Background: DNA methylation is an epigenetic mechanism that has been proposed as a possible link between genetic and environmental determinants of disease. Prior studies reported robust associations between the methylation of specific cytosine-phosphate-guanine (CpG) sites and plasma lipids, namely triglycerides (TGs) and high-density lipoprotein cholesterol (HDL-C). However, the causality of the observed association remains elusive, hampered by weak instrumental variables for methylation status. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-018-0119-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157243PMC
September 2018
4 Reads

Direct and indirect genetic effects on triglycerides through omics and correlated phenotypes.

BMC Proc 2018 17;12(Suppl 9):22. Epub 2018 Sep 17.

1Department of Epidemiology, University of North Carolina, Chapel Hill, NC USA.

Even though there has been great success in identifying lipid-associated single-nucleotide polymorphisms (SNPs), the mechanisms through which the SNPs act on each trait are poorly understood. The emergence of large, complex biological data sets in well-characterized cohort studies offers an opportunity to investigate the genetic effects on trait variability as a way of informing the causal genes and biochemical pathways that are involved in lipoprotein metabolism. However, methods for simultaneously analyzing multiple omics, environmental exposures, and longitudinally measured, correlated phenotypes are lacking. Read More

View Article

Download full-text PDF

Source
https://bmcproc.biomedcentral.com/articles/10.1186/s12919-01
Publisher Site
http://dx.doi.org/10.1186/s12919-018-0118-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157130PMC
September 2018
5 Reads

Investigating potential causal relationships between SNPs, DNA methylation and HDL.

BMC Proc 2018 17;12(Suppl 9):20. Epub 2018 Sep 17.

1Department of Epidemiology, Biostatistics and Occupational Health, McGill University, 1020 Pine Avenue West, Quebec, Montreal H3A 1A2 Canada.

Using data on 680 patients from the GAW20 real data set, we conducted Mendelian randomization (MR) studies to explore the causal relationships between methylation levels at selected probes (cytosine-phosphate-guanine sites [CpGs]) and high-density lipoprotein (HDL) changes (Δ) using single-nucleotide polymorphisms (SNPs) as instrumental variables. Several methods were used to estimate the causal effects at CpGs of interest on Δ, including a newly developed method that we call (CIV). CIV performs automatic SNP selection while providing estimates of causal effects adjusted for possible pleiotropy, when the potentially-pleiotropic phenotypes are measured. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12919-018-0117-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157157PMC
September 2018
38 Reads