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Neighborhood-level Asian American Populations, Social Determinants of Health, and Health Outcomes in 500 US Cities.

Ethn Dis 2021 15;31(3):433-444. Epub 2021 Jul 15.

Department of Population Health, NYU Grossman School of Medicine, New York, NY.

Introduction: The US Asian American (AA) population is projected to double by 2050, reaching ~43 million, and currently resides primarily in urban areas. Despite this, the geographic distribution of AA subgroup populations in US cities is not well-characterized, and social determinants of health (SDH) and health measures in places with significant AA/AA subgroup populations have not been described. Our research aimed to: 1) map the geographic distribution of AAs and AA subgroups at the city- and neighborhood- (census tract) level in 500 large US cities (population ≥66,000); 2) characterize SDH and health outcomes in places with significant AA or AA subgroup populations; and 3) compare SDH and health outcomes in places with significant AA or AA subgroup populations to SDH and health outcomes in places with significant non-Hispanic White (NHW) populations. Read More

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Interferon-γ (+874 T/A) and interleukin-10 (-1082 G/A) genes polymorphisms are associated with active tuberculosis in the Algerian population of Oran's city.

Indian J Tuberc 2021 Apr 26;68(2):221-229. Epub 2020 Aug 26.

Immunology Department, La Rabta Hospital, Tunis, Tunisia; Laboratory of Immuno-Rheumatology (LR05 SP01), La Rabta Hospital, Tunis, Tunisia.

Background And Aims: Polymorphisms within genes encoding the cytokines involved in anti-tuberculosis immunity have been widely studied and sometimes associated with an increased risk of developing the active form of tuberculosis (TB). This study analyzes for the first time the impact of two polymorphisms, namely IFNG+874 T/A and IL10-1082 G/A, in the Algerian population where tuberculosis is moderately endemic.

Methods: This case-control study included 104 healthy controls and 141 active TB patients: 75 extrapulmonary (EPTB) and 66 pulmonary (PTB). Read More

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Association of maternal angiotensin II type 1 and type 2 receptor combination genotypes with susceptibility to early-onset preeclampsia.

J Hum Hypertens 2021 Mar 23. Epub 2021 Mar 23.

Department of Embryology, Faculty of Medicine, University of Thessaly, Larissa, Greece.

Allelic variations affecting the activity of the maternal renin-angiotensin system may play a role in the development of hypertensive disorders of pregnancy like preeclampsia, its more severe early-onset form, and intrauterine growth restriction. We examined the association of common allelic variants of angiotensin II type 1 and type 2 receptor genes (AT1R and AT2R) sorted in five AT1R/AT2R receptor combination genotype groups with susceptibility to early-onset preeclampsia (EOP). The occurrence of AT1R (A1166C) and A2TR (C3123A) alleles in wild type (AA, CC), heterozygous (A/C, C/A), and homozygous (C/C, A/A) states was recorded in 84 women with a history of EOP and 84 age-matched controls sorted in five AT1R/AT2R receptor combination genotype (wild type: AA/CC, one mutant: AA/CA, AC/CC, two mutant: AC/CA, AA/AA, CC/CC, three mutants: AC/AA, CC/CA and four mutant: CC/AA) groups, by polymerase chain reaction-RFLP analysis. Read More

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Association between apolipoprotein B XbaI polymorphisms and coronary heart disease: A meta-analysis.

BMC Cardiovasc Disord 2020 06 3;20(1):265. Epub 2020 Jun 3.

Department of Cardiology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.

Background: To evaluate the association between apolipoprotein B gene polymorphism and coronary heart disease in some populations at home and abroad by means of meta-analysis.

Methods: Using the strict exclusion criteria for primary screening of the literature and applying the Hardy-Weinberg equilibrium to test the genetic balance of the selected literature. The corresponding models were selected according to the results of the heterogeneity test. Read More

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The nonconservative CD177 single-nucleotide polymorphism c.1291G>A is a genetic determinant for human neutrophil antigen-2 atypical/low expression and deficiency.

Transfusion 2019 05 3;59(5):1836-1842. Epub 2019 Mar 3.

Institute for Clinical Immunology and Transfusion Medicine, Justus Liebig University, Giessen, Germany.

Background: Human neutrophil antigen-2 (HNA-2) is exclusively expressed on neutrophils. HNA-2-deficient individuals (HNA-2 null) are susceptible to produce isoantibodies. The nonsense CD177 coding single-nucleotide polymorphism (SNP) c. Read More

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Association between bile salt export pump polymorphisms and intrahepatic cholestasis of pregnancy susceptibility: a meta-analysis of case-control studies.

Gynecol Endocrinol 2019 Feb 6;35(2):179-183. Epub 2019 Jan 6.

a Department of Pharmacy , Wuxi Maternal and Child Health Hospital , Wuxi , Jiangsu Province , China.

The purpose of this meta-analysis was to investigate the relationship between bile salt export pump (BSEP) polymorphisms and intrahepatic cholestasis of pregnancy (ICP) susceptibility. Retrieved studies from Pubmed, EMBASE, Web of Science, Cochrane Library and CBM databases about BSEP polymorphisms and ICP susceptibility were included. Odds ratio (OR) and 95% confidence interval (CI) and publication bias were calculated. Read More

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February 2019

Leptin Gene G2548A Polymorphism among Mongolians with Metabolic Syndrome.

Med Sci (Basel) 2018 Dec 21;7(1). Epub 2018 Dec 21.

Department of Biochemistry and Laboratory Medicine, School of Biomedicine, Mongolian National University of Medical Sciences, Ulaanbaatar 14210, Mongolia.

Metabolic syndrome (MetS) corresponds with multiple risk factors. Many studies have indicated that MetS significantly increases the risk of cardiovascular diseases and type 2 diabetes (T2D). The prevalence of MetS was estimated to be one third of the general Mongolian population in 2015. Read More

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December 2018

Human brain blood flow and metabolism during isocapnic hyperoxia: the role of reactive oxygen species.

J Physiol 2019 02 26;597(3):741-755. Epub 2018 Dec 26.

Laboratory of Exercise Sciences, Fluminense Federal University, Niterói, Brazil.

Key Points: It is unknown whether excessive reactive oxygen species (ROS) production drives the isocapnic hyperoxia (IH)-induced decline in human cerebral blood flow (CBF) via reduced nitric oxide (NO) bioavailability and leads to disruption of the blood-brain barrier (BBB) or neural-parenchymal damage. Cerebral metabolic rate for oxygen (CMR ) and transcerebral exchanges of NO end-products, oxidants, antioxidants and neural-parenchymal damage markers were simultaneously quantified under IH with intravenous saline and ascorbic acid infusion. CBF and were reduced during IH, responses that were followed by increased oxidative stress and reduced NO bioavailability when saline was infused. Read More

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February 2019

Genetic variation in the CLOCK gene is associated with idiopathic recurrent spontaneous abortion.

PLoS One 2018 16;13(5):e0196345. Epub 2018 May 16.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

Physiological studies in animals and human support an important role of circadian system in reproduction. The aim of this study was to investigate the potential association of CLOCK gene polymorphisms with idiopathic recurrent spontaneous abortion (IRSA). We performed a case-control study. Read More

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Association of vitamin D receptor BsmI rs1544410 and ApaI rs7975232 polymorphisms with susceptibility to adolescent idiopathic scoliosis: A systematic review and meta-analysis.

Medicine (Baltimore) 2018 Jan;97(2):e9627

Department of Orthopaedics, The First Affiliated Hospital of General Hospital of PLA, Beijing Department of Orthopaedics, Clinical Medical College of Yangzhou University, Subei People's Hospital of Jiangsu Province, Yangzhou, Jiangsu, People's Republic of China.

Background: AIS is the most common spinal deformity disease, yet its etiology remains uncertain. Significant associations have been found between AIS risk and vitamin D receptor (VDR) gene polymorphisms; however, some of these results are controversial. The aim of this study was to determine whether VDR BsmI rs1544410 and ApaI rs7975232 polymorphisms are correlated with AIS. Read More

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January 2018

Circulating 25-Hydroxy Vitamin D Relative to Vitamin D Receptor Polymorphism after Vitamin D3 Supplementation in Breast Cancer Women: A Randomized, Double-Blind Controlled Clinical Trial

Asian Pac J Cancer Prev 2017 07 27;18(7):1953-1959. Epub 2017 Jul 27.

Department of Nutrition, Faculty of Paramedicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

Objective: The influence of vitamin D receptor (VDR) genetic variation on serum 25-hydroxyvitamin D levels [25(OH)D] after vitamin D3 supplementation remains unclear. We aimed to investigate changes of 25(OH)D in a randomized, double-blind, placebo-controlled clinical trial, according to VDR genotype, after provision of vitamin D3 to breast cancer cases for a 2-month period. Methods: Participants were assigned to two treatment arms: placebo (n = 28) and vitamin D3 supplementation (n =28). Read More

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IKKα controls ATG16L1 degradation to prevent ER stress during inflammation.

J Exp Med 2017 02 12;214(2):423-437. Epub 2017 Jan 12.

Institute for Tumor Biology and Experimental Therapy, Georg-Speyer-Haus, 60596 Frankfurt am Main, Germany

Inhibition of the IκB kinase complex (IKK) has been implicated in the therapy of several chronic inflammatory diseases including inflammatory bowel diseases. In this study, using mice with an inactivatable IKKα kinase (Ikkα), we show that loss of IKKα function markedly impairs epithelial regeneration in a model of acute colitis. Mechanistically, this is caused by compromised secretion of cytoprotective IL-18 from IKKα-mutant intestinal epithelial cells because of elevated caspase 12 activation during an enhanced unfolded protein response (UPR). Read More

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February 2017

Vitamin D Receptor Gene, Matrix Metalloproteinase 3 Polymorphisms and the Risk of Intervertebral Disc Degeneration Susceptibility: Meta-Analysis.

Asian Spine J 2016 Oct 17;10(5):964-971. Epub 2016 Oct 17.

Department of Orthopedics, Changzhou Second Hospital, Nanjing Medical University, Changzhou, China.

Several studies have evaluated the association between vitamin D receptor, matrix metalloproteinase 3 (MMP-3) polymorphisms and the risk of intervertebral disc degeneration susceptibility. The findings were inconsistent. This meta-analysis aimed to systematically assess the association between vitamin D receptor, MMP-3 polymorphisms and the risk of intervertebral disc degeneration susceptibility. Read More

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October 2016

[Effects of IL10-592 locus of AA genotype on the incidence of aGVHD and survival after HLA-matched unrelated allogeneic hematopoietic stem cell transplantation].

Zhonghua Xue Ye Xue Za Zhi 2016 May;37(5):372-6

The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, Suzhou 215006, China.

Objective: To explore the impact of IL10-592 (rs1800872) single nucleic acid polymorphism (SNP) on the prognosis of HLA matched unrelated hematopoietic stem cell transplantation (HSCT).

Methods: The polymorphism of IL10-592 in 104 recipient-donor pairs and 100 healthy volunteers was analyzed with sequence based typing (SBT).

Results: When the genotype of IL10-592 in donors and recipients matched, AA/AA genotype had higher incidence of Ⅲ-Ⅳ aGVHD than AC/AC or CC/CC genotype (47. Read More

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NFE2L2 Gene Variants and Arsenic Susceptibility: A Lymphoblastoid Model.

J Toxicol Environ Health A 2015 ;78(10):628-34

a Universidad Autónoma de la Ciudad de México, Posgrado en Ciencias Genómicas , Mexico City , Mexico.

Arsenic (As) exposure is a major risk for several types of cancer and metabolic diseases such as diabetes. The transcription factor nuclear factor erythroid 2-related factor (Nrf2) is a key mediator in the cellular defense against As-induced adverse effects. The -653G/A and -617C/A gene variants modulate expression levels of the Nrf2 coding gene (NFE2L2) and are postulated to be associated with several illnesses. Read More

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Bone marrow-specific knock-in of a non-activatable Ikkα kinase mutant influences haematopoiesis but not atherosclerosis in Apoe-deficient mice.

PLoS One 2014 3;9(2):e87452. Epub 2014 Feb 3.

Institute of Molecular Cardiovascular Research, RWTH Aachen University, Aachen, Germany.

Background: The Ikkα kinase, a subunit of the NF-κB-activating IKK complex, has emerged as an important regulator of inflammatory gene expression. However, the role of Ikkα-mediated phosphorylation in haematopoiesis and atherogenesis remains unexplored. In this study, we investigated the effect of a bone marrow (BM)-specific activation-resistant Ikkα mutant knock-in on haematopoiesis and atherosclerosis in mice. Read More

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December 2014

Impact of three-dimensional imaging and pressure recovery on echocardiographic evaluation of severe aortic stenosis: a pilot study.

Echocardiography 2014 Sep 22;31(8):1006-16. Epub 2014 Jan 22.

Cardiology, University Heart Center, University Hospital Zürich, Zürich, Switzerland.

Aims: In patients with aortic stenosis (AS), echocardiographic grading of stenosis severity is important, in particular for transcatheter aortic valve implantation (TAVI). Three-dimensional (3D) echocardiography and correction for pressure recovery (PR) by energy loss index (ELI) may improve aortic valve area (AVA) calculation.

Methods And Results: Thirty-nine patients with severe AS evaluated for TAVI were included. Read More

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September 2014

Graded Otx2 activities demonstrate dose-sensitive eye and retina phenotypes.

Hum Mol Genet 2014 Apr 13;23(7):1742-53. Epub 2013 Nov 13.

Collège de France, Center for Interdisciplinary Research in Biology, UMR CNRS 7241/INSERM U1050, 11 place Marcelin Berthelot, Paris 75005, France.

In the human, mutations of OTX2 (Orthodenticle homeobox 2 transcription factor) translate into eye malformations of variable expressivity (even between the two eyes of the same individual) and incomplete penetrance, suggesting the existence of subtle thresholds in OTX2 activity. We have addressed this issue by analyzing retinal structure and function in six mutant mice with graded Otx2 activity: Otx2(+/+), Otx2(+/AA), Otx2(+/GFP), Otx2(AA/AA), Otx2(AA/GFP) and Otx2(GFP/GFP). Null mice (Otx2(GFP/GFP)) fail to develop the head and are embryonic lethal, and compound heterozygous Otx2(AA/GFP) mice show a truncated head and die at birth. Read More

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Laboratory diagnosis of homozygous alpha thalassaemia.

West Afr J Med 2013 Apr-Jun;32(2):133-8

Medical Laboratory Sciences, School of Allied Health Sciences, College of Health Sciences, University of Ghana.

Background: Alpha-thalassaemia is one of the most prevalent haemoglobinopathies in the world. The molecular basis of the condition is mainly due to deletion of one or more alpha genes and occasional point mutations. The diagnosis and treatment of microcytic hypochromic anaemia is at times a problematic medical issue in Ghana due to co-existence of a-thalassaemia traits and iron deficiency anaemia (IDA) since there is no routine laboratory procedure for the diagnosis of the former. Read More

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December 2014

Magnetophysiologic and echocardiographic comparison of blocked atrial bigeminy and 2:1 atrioventricular block in the fetus.

Heart Rhythm 2013 Aug 22;10(8):1192-8. Epub 2013 Apr 22.

Department of Medical Physics, University of Wisconsin-Madison, Madison, Wisconsin 53705, USA.

Background: Blocked atrial bigeminy (BAB) and second-degree atrioventricular block with 2:1 conduction block (2:1 AVB) both present as ventricular bradycardia and can be difficult to distinguish by echocardiography. Since the prognosis and clinical management of these rhythms are different, an accurate diagnosis is essential.

Objective: To identify magnetic and mechanical heart rate and rhythm parameters that could reliably distinguish BAB from 2:1 AVB. Read More

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Cannabinoid CB2 receptor gene (CNR2) polymorphism is associated with chronic childhood immune thrombocytopenia in Egypt.

Blood Coagul Fibrinolysis 2013 Apr;24(3):247-51

Clinical Pathology Department bPaediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt.

Immune thrombocytopenia (ITP) is a heterogeneous autoimmune disorder characterized by thrombocytopenia with or without mucocutaneous bleeding manifestations. ITP patients have significant defects in immune self-tolerance: autoreactive T-lymphocyte clones are capable of directly damaging platelets and possibly megakaryocytes and are likely to proliferate under the influence of Th lymphocytes. The CB2 receptor is thought to be the principal cannabinoid receptor that mediates immune modulation by endocannabinoid. Read More

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Polymorphisms in the IL-18 and IL-12B genes and their association with the clinical outcome in Croatian patients with Type 1 diabetes.

Gene 2013 Jan 6;512(2):477-81. Epub 2012 Nov 6.

Ruđer Bošković Institute, Division of Molecular Medicine, Zagreb, Croatia.

Genetic variants of IL-18 and IL-12B may be important in immunoregulatory abnormalities, observed in the patients with Type 1 diabetes mellitus (T1DM), that contribute to individual differences in response to a treatment. Therefore, we examined the significance of IL-18-137G/C, IL-18-607C/A, and IL-12B A/C polymorphisms in Croatians (187 patients, 236 controls), not only as factors that contribute to susceptibility to T1DM, but also as determinants of the clinical presentation of disease. The polymorphism screening has been performed using PCR sequence-specific primers (IL-18) or PCR-RFLP (IL-12B) approach. Read More

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January 2013

Frequency Distribution of COMT Polymorphisms in Greek Patients with Schizophrenia and Controls: A Study of SNPs rs737865, rs4680, and rs165599.

ISRN Psychiatry 2012 1;2012:651613. Epub 2012 Nov 1.

Department of Pharmaceutical Technology, School of Pharmacy, National and Kapodistrian University of Athens, Panepistimiopolis, 15771 Athens, Greece.

Schizophrenia, a severe psychiatric condition, is characterized by disturbances of cognition, emotion, and social functioning. The disease affects almost 1% of world population. Recent studies evaluating the role of catechol-O-methyltransferase enzyme (COMT) polymorphisms in the pathogenesis of schizophrenia have resulted in ambiguous findings. Read More

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A variant of the Il2ra / Cd25 gene predisposing to graves' disease is associated with increased levels of soluble interleukin-2 receptor.

Scand J Immunol 2011 Nov;74(5):496-501

Department of Molecular Diagnostics, National Research Center GosNIIgenetika, Moscow, Russia.

Alpha-subunit of the IL-2 receptor (IL-2Rα) encoded by the IL2RA/CD25 gene binds IL-2 that plays a pivotal role in the regulation of T cell function. Levels of a soluble form of IL-2Rα (sIL-2Rα) lacking the transmembrane and cytoplasmic domains were shown to be increased in several autoimmune diseases including Graves' disease (GD). Recent studies showed association between the IL2RA/CD25 gene variants and several autoimmune diseases including GD. Read More

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November 2011

Polymorphisms at the regulatory regions of the CASR gene influence stone risk in primary hyperparathyroidism.

Eur J Endocrinol 2011 Mar 23;164(3):421-7. Epub 2010 Dec 23.

Nephrology and Dialysis Unit, Postgraduate School of Nephrology, Vita Salute University, San Raffaele Scientific Institute, 20132 Milan, Italy.

Background And Objective: Single nucleotide polymorphisms (SNPs) of the calcium-sensing receptor (CASR) gene at the regulatory region were associated with idiopathic calcium nephrolithiasis. To confirm their association with nephrolithiasis, we tested patients with primary hyperparathyroidism (PHPT).

Design: A genotype-phenotype association study. Read More

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[Synergistic interaction between MMP-3, VDR gene polymorphisms and occupational risk factors on lumbar disc degeneration].

Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi 2010 May;28(5):334-8

Department of Occupational Health, School of Public Health, Fudan University, Shanghai 200032, China.

Objective: To explore the synergistic interaction between MMP-3,VDR gene polymorphisms and occupational risk factors on lumbar disc degeneration.

Methods: A case-control study including 178 cases of lumbar disc degeneration and 284 controls was carried out through questionnaire and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technology. Additive model was used to analyze the synergistic interaction between gene polymorphisms and occupational risk factors. Read More

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[Correlation of XPD gene with susceptibility to gastric cancer].

Ai Zheng 2009 Nov;28(11):1163-7

Department of Digestive Diseases, Medical College, Shandong University, Shandong, P. R. China.

Background And Objective: Mutations in DNA repair system are related to carcinogenesis. This study was to evaluate the correlations of polymorphisms and haplotypes of XPD gene with individual susceptibility to gastric cancer.

Methods: Genomic DNA were extracted from peripheral blood leukocytes of 207 gastric cancer patients and 212 healthy controls. Read More

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November 2009

A case-control study of CYP1A1, GSTT1 and GSTM1 gene polymorphisms, pregnancy smoking and fetal growth restriction.

Eur J Obstet Gynecol Reprod Biol 2009 Mar 14;143(1):38-42. Epub 2009 Jan 14.

Child & Reproductive Health Group, Liverpool School of Tropical Medicine, UK.

Objectives: To determine the role of maternal CYP1A1, GSTT1, and GSTM1 metabolic gene polymorphisms in modulating the association between pregnancy smoking exposure and fetal growth restriction.

Study Design: A case-control study was conducted to investigate if the association of pregnancy smoking and birth outcome was modulated by maternal gene polymorphisms. A total of 90 mothers with an IUGR baby (cases) and 180 mothers without IUGR (controls) were enrolled. Read More

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Effect of DGAT1 and TG gene polymorphisms on intramuscular fat and on milk production traits in different cattle breeds in Hungary.

Acta Vet Hung 2008 Jun;56(2):181-6

Research Institute for Animal Breeding and Nutrition, H-2053 Herceghalom, Hungary.

The objective of this study was to estimate the effect of the thyroglobulin (TG) locus on beef quality traits in some beef cattle breeds and to investigate the effect of the DGAT1 locus on milk production traits in the Hungarian Holstein Friesian population. TG and DGAT1 genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. At the TG locus TT bulls showed the highest fat percentage values in the longissimus dorsi muscle (m. Read More

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Dairy products, polymorphisms in the vitamin D receptor gene and colorectal adenoma recurrence.

Int J Cancer 2008 Aug;123(3):586-93

Institute of Cancer Research, Section of Cancer Genetics, Sutton SM2 5NG, United Kingdom.

Vitamin D receptor (VDR) activation inhibits proliferation and angiogenesis in the colorectal epithelium, and inhibits metastasis of colorectal tumors. Polymorphisms in the VDR gene alter receptor cellular levels and functioning, and may confer altered susceptibility to colorectal neoplasia. We aimed to investigate the influence of VDR polymorphisms and dietary factors impacting on vitamin D metabolism on colorectal adenoma (CRA) recurrence. Read More

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