40,462 results match your criteria method genotyping

HLA-DPB1 E69 genotype and exposure in beryllium sensitisation and disease.

Occup Environ Med 2021 Sep 17. Epub 2021 Sep 17.

Department of Medicine, National Jewish Health, Denver, Colorado, USA

Objectives: Human leukocyte antigen-DP beta 1 (HLA-DPB1) with a glutamic acid at the 69th position of the ß chain (E69) genotype and inhalational beryllium exposure individually contribute to risk of chronic beryllium disease (CBD) and beryllium sensitisation (BeS) in exposed individuals. This retrospective nested case-control study assessed the contribution of genetics and exposure in the development of BeS and CBD.

Methods: Workers with BeS (n=444), CBD (n=449) and beryllium-exposed controls (n=890) were enrolled from studies conducted at nuclear weapons and primary beryllium manufacturing facilities. Read More

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September 2021

Prognostic Value Evaluation of HLA-DRB1*07:01, *10, *12, *13:01 Alleles for Alloimmunization in Transfusion-Dependent Thalassemia.

Transfus Apher Sci 2021 Sep 6:103271. Epub 2021 Sep 6.

Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran.. Electronic address:

Background: Transfusion is a lifesaving treatment for lots of patients. However, in chronic blood recipients such as thalassemia patients, there are high concerns about alloantibody production that affects the quality of their life. Therefore, research on risk factors of alloimmunization has been started and followed. Read More

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September 2021

Hidden historical habitat-linked population divergence and contemporary gene flow of a deep-sea patellogastropod limpet.

Mol Biol Evol 2021 Sep 17. Epub 2021 Sep 17.

Southern Marine Science and Engineering Guangdong Laboratory (Guangzhou), Guangzhou, China.

Hydrothermal vents and hydrocarbon seeps in the deep ocean are rare oases fuelled by chemosynthesis. Biological communities inhabiting these ecosystems are often distributed in widely separated habitats, raising intriguing questions on how these organisms achieve connectivity and whether habitat types facilitate intraspecific divergence. The deep-sea patellogastropod limpet Bathyacmaea nipponica that colonises both vents and seeps across ∼2,400 km in the Northwest Pacific is a feasible model to answer these questions. Read More

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September 2021

Polygenetic risk scores do not add predictive power to clinical models for response to anti-TNFα therapy in inflammatory bowel disease.

PLoS One 2021 17;16(9):e0256860. Epub 2021 Sep 17.

Department of Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Background: Anti-tumour necrosis factor alpha (TNFα) therapy is widely used in the management of Crohn's disease (CD) and ulcerative colitis (UC). However, up to a third of patients do not respond to induction therapy and another third of patients lose response over time. To aid patient stratification, polygenetic risk scores have been identified as predictors of response to anti-TNFα therapy. Read More

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September 2021

The BDNF rs7934165 polymorphism is a biomarker of central obesity and cardiometabolic risk in Mexican women.

Eur Rev Med Pharmacol Sci 2021 Sep;25(17):5463-5473

Universidad Autónoma de Nuevo León, Centro de Investigación en Nutrición y Salud Pública (CINSP), Monterrey, Nuevo León, México.

Objective: Brain-derived neurotrophic factor (BDNF) is a cornerstone in the hypothalamic regulation of food intake and energy homeostasis. Polymorphisms in the BDNF gene may thus contribute to obesity traits. The aim of this investigation was to analyze the association of rs6265 and rs7934165 BDNF polymorphisms in women from Northeast Mexico classified as obese or overweight using their BMI and waist-to-height ratio (WHtR). Read More

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September 2021

Preliminary study of genome-wide association identified novel susceptibility genes for thyroid-related hormones in Chinese population.

Genes Genomics 2021 Sep 17. Epub 2021 Sep 17.

Hainan Affiliated Hospital of Hainan Medical University, #19, Xiuhua Road, Xiuying District, Haikou, 570311, Hainan, People's Republic of China.

Background: Thyroid hormones are critical regulators of metabolism, development and growth in mammals. However, the genetic association of thyroid-related hormones in the Chinese Han population is not fully understood.

Objective: We aimed to identify the genetic loci associated with circulating thyroid-related hormones concentrations in the healthy Chinese Han population. Read More

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September 2021

Introgression and QTL mapping conferring resistance for Alternaria brassicae in the backcross progeny of Sinapis alba + Brassica juncea somatic hybrids.

Plant Cell Rep 2021 Sep 17. Epub 2021 Sep 17.

Genetics Division, ICAR-Indian Agriculture Research Institute, Pusa Campus, New Delhi, 110012, India.

Key Message: A total of three QTLs, responsible for A. brassicae resistance were introgressed into S. alba - B. Read More

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September 2021

Association of the MAOB rs1799836 Single Nucleotide Polymorphism and APOE ɛ4 Allele in Alzheimer's Disease.

Curr Alzheimer Res 2021 Sep 17. Epub 2021 Sep 17.

Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb Medical School, Zagreb, Croatia.

Background: The dopaminergic system is functionally compromised in Alzheimer's dis-ease (AD). The activity of monoamine oxidase B (MAOB), the enzyme involved in the degradation of dopamine, is increased during AD. Also, increased expression of MAOB occurs in the post-mortem hippocampus and neocortex of patients with AD. Read More

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September 2021

Kallikrein augments the anticoagulant function of the protein C system in thrombin generation.

J Thromb Haemost 2021 Sep 17. Epub 2021 Sep 17.

Synapse Research Institute, Cardiovascular Research Institute Maastricht, Maastricht University Medical Center, Maastricht, The Netherlands.

Background & Aims: Genetics play a significant role in coagulation phenotype and venous thromboembolism risk. Resistance to the anticoagulant activated protein C (APC) is an established risk for thrombosis. Herein, we explored the genetic determinants of thrombin generation (TG) and thrombomodulin (TM)- modulated TG using plasma from the Human Functional Genomics Project. Read More

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September 2021

Polymorphism of Gene in Vietnamese Gastric Cancer Patients: A Multicenter Case-Control Study.

Front Oncol 2021 31;11:694977. Epub 2021 Aug 31.

Biochemistry Department, Hanoi Medical University, Hanoi, Vietnam.

Background: A few studies revealed that the polymorphisms of gene have a role and significance as a susceptible factor contributing to gastric cancer. To better understand the roles of two genotype polymorphisms of rs4072037 and rs2070803 in the development of gastric cancer in Vietnamese population, a multicenter, large-sample, case-control study was conducted to investigate the potential association of these single-nucleotide polymorphisms (SNPs) of gene with gastric cancer risk and to evaluate the combination factors in relation with these SNPs.

Methods: This case-control study included 302 gastric cancer patients and 304 controls at four national medical hospitals between 2016 and 2018. Read More

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Association of rs2231142 Allele and BMI With Hyperuricemia in an East Asian Population.

Front Genet 2021 31;12:709887. Epub 2021 Aug 31.

Department of Medical Research, Taichung Veterans General Hospital, Taichung, Taiwan.

Genetic variants and obesity are risk factors for hyperuricemia (HUA). Recent genome-wide association studies have identified rs2231142 as one of the most prominent genetic variants for HUA in an East Asian population. Nevertheless, no large-scale studies have demonstrated any interactive effects between this variant and obesity on serum urate level in Asians. Read More

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Cost-Effectiveness and Budget Impact Analysis of Primary Screening With Human Papillomavirus Test With Genotyping in Argentina.

Value Health Reg Issues 2021 Sep 13;26:160-168. Epub 2021 Sep 13.

Hospital de Clínicas, Buenos Aires, Argentina.

Objectives: Cervical cancer (ICC) is the fourth leading cause of mortality in women in Argentina and primary screening with conventional cytology (Papanicolaou smear) is the most widely used strategy despite its limitations. Strategies based on human papillomavirus (HPV) testing have the potential to improve detection and reduce mortality. The objective of this study is to evaluate the cost-effectiveness and budgetary impact of a strategy based on HPV testing with genotyping. Read More

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September 2021

Prevalence of high-risk human papillomavirus DNA and mRNA and its association with abnormal anal cytology in the Czech male anal cancer screening cohort.

Diagn Cytopathol 2021 Sep 16. Epub 2021 Sep 16.

Biomedical Center of the Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.

Background: Anal cancer (AC) screening is justified in high-risk populations, particularly HIV-positive men having sex with men (MSM). HR-HPV testing could improve the efficiency of cytologically based screening of AC, as in the screening of biologically analogical cervical cancer. The specificity of HR-HPV testing is influenced by the prevalence of HR-HPV infection in the screened population. Read More

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September 2021

A genomic snapshot of Salmonella enterica serovar Typhi in Colombia.

PLoS Negl Trop Dis 2021 Sep 16;15(9):e0009755. Epub 2021 Sep 16.

University of Cambridge School of Clinical Medicine Department of Medicine, Cambridge Biomedical Campus, Cambridge, United Kingdom.

Little is known about the genetic diversity of Salmonella enterica serovar Typhi (S. Typhi) circulating in Latin America. It has been observed that typhoid fever is still endemic in this part of the world; however, a lack of standardized blood culture surveillance across Latin American makes estimating the true disease burden problematic. Read More

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September 2021

Impact of CYP2D6 Polymorphism on Equilibrium Concentration of Fluoxetine in Patients Diagnosed With Major Depressive Disorder and Comorbid Alcohol Use Disorders.

J Psychiatr Pract 2021 Sep 16;27(5):372-379. Epub 2021 Sep 16.

Introduction: Fluoxetine is used in the treatment of patients with recurrent depressive disorder. Some of these patients do not achieve an adequate response to a treatment regimen containing fluoxetine, and many of these patients experience dose-dependent adverse drug reactions. The cytochrome P450 enzyme CYP2D6 is involved in the biotransformation of fluoxetine, the activity of which is quite dependent on the polymorphism of the gene encoding this enzyme. Read More

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September 2021

The "GG" genotype of rs26802 variant in the ghrelin gene is a potential protective factor against nonalcoholic fatty liver disease.

Physiol Int 2021 Sep 16. Epub 2021 Sep 16.

2 Gastroenterology and Liver Diseases Research Center, Research Institute for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Background: Nonalcoholic fatty liver disease (NAFLD) is an emerging global chronic liver disease worldwide. Considering the powerful association between NAFLD, insulin resistance (IR) and obesity, as well as the key role of ghrelin in these metabolic disorders, we hypothesized that some single nucleotide polymorphisms (SNPs) of the ghrelin (GHRL) and ghrelin receptor (GHSR) genes might be associated with NAFLD.

Methods: We conducted a case-control retrospective study of 150 cases with biopsy-proven NAFLD and 155 controls. Read More

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September 2021

Ex Vivo Expansion and CRISPR-Cas9 Genome Editing of Primary Human Natural Killer Cells.

Curr Protoc 2021 Sep;1(9):e246

Institute of Biological Chemistry, Academia Sinica, Taipei, Taiwan.

Natural killer (NK) cells are potent innate immune cells that provide the surveillance and elimination of infected, stressed, and malignant cells. The unique immune recognition mechanisms and functions of NK cells make them an attractive cell type for immunology research and adoptive immunotherapy. However, primary NK cells are challenging to culture ex vivo and lack efficient genetic tools, hindering the research of NK cells and the development of NK cell therapeutics. Read More

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September 2021

The role of BDNF exon I region methylation in the treatment of depression with sertraline and its clinical diagnostic value.

J Clin Lab Anal 2021 Sep 15:e23993. Epub 2021 Sep 15.

Department of Affective Disorder, Ningbo Kangning Hospital, Ningbo, Zhejiang, China.

Background: Brain-derived neurotrophic factor (BDNF) is considered to be one of the best candidate genes for depression. However, whether sertraline treatment affects the methylation level of this gene remains unknown.

Methods: Fifty-three patients with depression and 51 healthy controls were included in the study. Read More

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September 2021

Gephyrin and Genetic Polymorphisms in Patients with Pharmacoresistant Epilepsy.

Pharmgenomics Pers Med 2021 9;14:1133-1140. Epub 2021 Sep 9.

Department of Medical Biochemistry, Faculty of Medicine, South Valley University, Qena, 83523, Egypt.

Purpose: Gephyrin () is an essential protein in the regulation of inhibitory postsynaptic density and polymorphism in the corresponding gene may have a role in the development of pharmacoresistant epilepsy (PRE). For the first time, we aimed to evaluate the association of rs928553T/C variants with PRE susceptibility. Moreover, we have analyzed the genetic polymorphism affecting "rs12782374G/A" in the same population to detect the effect of SNP on the drug-metabolizing ability of patients with PRE. Read More

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September 2021

Genomic epidemiology and strain taxonomy of .

J Clin Microbiol 2021 Sep 15:JCM0158121. Epub 2021 Sep 15.

Institut Pasteur, Biodiversity and Epidemiology of Bacterial Pathogens.

is highly transmissible and can cause large diphtheria outbreaks where vaccination coverage is insufficient. Sporadic cases or small clusters are observed in high-vaccination settings. The phylogeography and short timescale evolution of are not well understood, in part due to a lack of harmonized analytical approaches of genomic surveillance and strain tracking. Read More

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September 2021

The effect of CHRNA3 rs1051730 C>T and ABCB1 rs3842 A>G polymorphisms on non-small cell lung cancer and nicotine dependence in Iranian population.

Heliyon 2021 Sep 24;7(9):e07867. Epub 2021 Aug 24.

Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran.

Aims: Lung cancer is still the leading cause of cancer mortality in all over the world. Nicotine and its derivatives are the most well-known carcinogens that participate in both etiology and progression of lung cancer. The objective of the current study was to investigate whether single nucleotide polymorphisms (SNPs) rs1051730C > T in CHRNA3 and rs3842A > G in ABCB1, two genes contributing in the mechanism of disposition and metabolism of nicotine and its derivatives, could modify the risk of developing lung cancer, as well as nicotine dependence in Iranian. Read More

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September 2021

Search for Possible Associations of Gene Polymorphic Variants with Metabolic Syndrome, Obesity and Body Mass Index in Schizophrenia Patients.

Pharmgenomics Pers Med 2021 7;14:1123-1131. Epub 2021 Sep 7.

Molecular Genetics and Biochemistry Laboratory, Mental Health Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russian Federation.

Purpose: Metabolic syndrome (MetS) is characterized by abdominal obesity, hyperglycaemia, dyslipidaemia and hypertension. FTO gene has been implicated in the pathogenesis of obesity, but the available scientific data concerning their relationship to antipsychotic drug-induced obesity and metabolic syndrome is still incomplete and inconsistent, which indicates that continuing the investigation of this gene's role is necessary.

Patients And Methods: In the present study, 517 patients with schizophrenia underwent antipsychotic drug treatment, and two groups were identified: patients with MetS and without MetS. Read More

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September 2021

[Analysis of risk factors for drug resistant mutations in the reverse transcriptase region in chronic hepatitis B virus-infected patients].

Zhonghua Gan Zang Bing Za Zhi 2021 Aug;29(8):771-775

Department of Hepatology, First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, National Clinical Research Center for Chinese Medicine Acupuncture and Moxibustion, Tianjin 300381, China.

To analyze the risk factors that may affect the mutations in the reverse transcriptase region in chronic hepatitis B virus-infected patients. 678 hospitalized cases with chronic HBV infection who underwent HBV RT testing at Tianjin Second People's Hospital from January 1, 2016 to December 31, 2016 were collected retrospectively. Among them, 417 cases were diagnosed with chronic hepatitis B, 219 cases with liver cirrhosis and 42 cases with primary liver cancer. Read More

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A new minisatellite VNTR marker, Pscp1, discovered for the identification of opium poppy.

Forensic Sci Int Genet 2021 Aug 20;55:102581. Epub 2021 Aug 20.

Forensic DNA Division, National Forensic Service, Wonju 26460, Republic of Korea. Electronic address:

Opium poppy, a member of the Papaveraceae family, is an ancient herbaceous plant and well-known medical resource in the pharmaceutical industry. However, opium poppies are grown worldwide for producing illicit drugs, significantly increasing the incidence of narcotic drug abuse. Since the narcotic poppy has not yet been genetically investigated, we characterized a novel variable number tandem repeat (VNTR) marker of forensically important poppy species based on the genetic analysis of 164 samples collected from two locations spanning the Jeolla province and Jeju island of South Korea. Read More

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Anal human papillomavirus prevalence and risk factors among men who have sex with men in Vietnam.

Int J Infect Dis 2021 Sep 10. Epub 2021 Sep 10.

London School of Hygiene and Tropical Medicine, London, UK; Infection and Immunity, Murdoch Children's Research Institute, VIC, Australia; Department of Paediatrics, The University of Melbourne, VIC, Australia; National Institute for Control of Vaccine and Biologicals, Vietnam.

Objectives: Men who have sex with men (MSM) are at risk of human papillomavirus (HPV)-related cancers, while published data are scarce. We determined HPV prevalence and risk factors in MSM in Vietnam to inform HPV prevention strategies in this key population.

Methods: A cross-sectional study of 799 MSM aged 16 to 50 years old was conducted in Vietnam in 2017-2018. Read More

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September 2021

Functional Variants of miR-143 Are Associated with Schizophrenia Susceptibility: A Preliminary Population-Based Study and Bioinformatics Analysis.

Biochem Genet 2021 Sep 13. Epub 2021 Sep 13.

Department of Psychiatry, Zahedan University of Medical Sciences, Zahedan, Iran.

Single nucleotide polymorphisms within genes encoding microRNAs may alter the expression of microRNAs and their target genes, contributing to the etiology of psychiatric disorders. We aimed to investigate the link between rs4705342T/C and rs4705343T/C polymorphisms in the promoter region of miR-143 and the risk of schizophrenia (SCZ) in a sample of an Iranian population. In this experimental study, a total of 398 subjects were recruited. Read More

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September 2021

Evaluation of a novel in-house HIV-1 genotype drug resistance assay using clinical samples in China.

Curr HIV Res 2021 Sep 10. Epub 2021 Sep 10.

Clinical and Research Center of Infectious Diseases, Beijing Ditan Hospital. China.

Background: HIV drug resistance poses a major challenge for anti-retroviral treatment (ART) and the prevention and control of HIV epidemic.

Objective: The study aims to establish a novel in-house assay with high efficiency, named AP in-house method, that would be suitable for HIV-1 drug resistance detection in China.

Methods: An in-house HIV-1 genotyping method was used to sequence the partial pol gene from 60 clinical plasma samples; the results of our test were compared with a commercial ViroSeq HIV-1 genotyping system. Read More

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September 2021

Verification of Single Nucleotide Polymorphisms rs34554140, rs6670279, and rs6874185 as Novel Molecular Genetic Markers of Sudden Cardiac Death.

Sovrem Tekhnologii Med 2021 1;13(2):40-44. Epub 2021 Jan 1.

Professor, Head of the Laboratory for Molecular Genetics of Internal Diseases, Institution of Internal and Preventive Medicine - Branch of the Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 175/1 Borisa Bogatkova St., Novosibirsk, 630089, Russia; Professor, Department of Medical Genetics and Biology, Faculty of Medicine, Novosibirsk State Medical University, 52 Krasny Prospekt, Novosibirsk, 630091, Russia.

was to explore the association between sudden cardiac death (SCD) and single nucleotide polymorphisms (SNPs) rs34554140, rs6670279, and rs6874185 from the list of potential molecular genetic markers of SCD, obtained in our earlier genome-wide allelotyping on pooled DNA samples.

Materials And Methods: The study is based on the case-control principle. The SCD group included 438 deceased residents of Novosibirsk (average age - 53. Read More

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January 2021

HPV Genotype Specific and Age Stratified Immediate Prevalence of Cervical Precancers and Cancers in Women with NILM/hrHPV+: A Single Center Retrospective Study of 26,228 Cases.

Cancer Manag Res 2021 2;13:6869-6877. Epub 2021 Sep 2.

Department of Pathology, Zhejiang University School of Medicine Women's Hospital, Hangzhou, 310006, People's Republic of China.

Purpose: To investigate the prevalence of precancers [high-grade squamous intraepithelial lesion (HSIL) and adenocarcinoma in situ (AIS)] and cancers [squamous cell carcinoma (SCC) and adenocarcinoma (ADC)] in various high-risk human papillomavirus (hrHPV) genotypes or age groups among women with negative for intraepithelial lesion or malignancy (NILM) and hrHPV-positive pap results.

Materials And Methods: In total, 26,228 women with NILM/hrHPV+ were included in the study. Among them, 5893 had immediate follow-up biopsy results available and were selected for further prevalence analysis. Read More

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September 2021


Georgian Med News 2021 Jul-Aug(316-317):129-135

1Laboratory of Genomic and Personalized Medicine, Center for Life Sciences, National Laboratory Astana, Nazarbayev University, Nur-Sultan; Kazakhstan.

Tuberculosis is one of the main problems of medicine in Kazakhstan. Kazakhstan is on the list of 30 countries with high rates of multidrug resistant tuberculosis in the world. Aim of this study is to conduct genotyping by MIRU-VNTR method to get preliminary data on M. Read More

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September 2021