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Single nucleotide polymorphism and vitamins

Katie M O'Brien, Dale P Sandler, Min Shi, Quaker E Harmon, Jack A Taylor, Clarice R Weinberg
Genetic factors likely influence individuals' concentrations of 25-hydroxyvitamin D [25(OH)D], a biomarker of vitamin D exposure previously linked to reduced risk of several chronic diseases. We conducted a genome-wide association study of serum 25(OH)D (assessed using liquid chromatography-tandem mass spectrometry) and 386,449 single nucleotide polymorphisms (SNPs). Our sample consisted of 1,829 participants randomly selected from the Sister Study, a cohort of women who had a sister with breast cancer but had never had breast cancer themselves...
2018: Frontiers in Genetics
Mehir Un Nisa Iqbal, Syed Amir Maqbool, Taseer Ahmed Khan
Objective The aim of this study was to determine whether a novel polymorphism ( Tru9I) in the low penetrance vitamin D receptor (VDR) gene is associated with risk of premenopausal breast cancer (BC). Methods This case-control study included 228 patients with BC and 503 healthy women living in Pakistan who were analyzed for the VDR Tru9I (rs757343) single nucleotide polymorphism. BC cases were histopathologically confirmed, and all healthy controls were age-matched with patients (age range, 20-45 years). DNA was extracted, and the polymerase chain reaction and restriction fragment length polymorphism assays were performed...
January 1, 2018: Journal of International Medical Research
Aysun Türkanoğlu Özçelik, Tuğçe Öner, Birsen Can Demirdöğen, Vedat Semai Bek, Şeref Demirkaya, Orhan Adalı
Objective Vitamin D deficiency is known as an important risk factor in pathogenesis of atherosclerosis, which contributes to stroke development. Genetic variations including single nucleotide polymorphisms (SNPs) in enzymes involved in vitamin D metabolism can affect susceptibility to the development of stroke. Therefore, the objective of this study was to investigate the association between polymorphisms of vitamin D metabolizing enzymes (rs927650 SNP in CYP24A1, and rs10741657 SNP in CYP2R1 genes,) and ischemic stroke risk in Turkish population...
March 12, 2018: Neurological Research
Wenfeng Gao, Rui Wang, Xiaojun Wang, Hao Wu, Yang Wang, Xiaofan Lu, Li Li, Jiasheng Zheng, Wei Li
AIM: Vitamin D is involved in antiviral/antitumor activities. Its associations to hepatitis B virus (HBV), HIV and hepatocellular carcinoma (HCC) are unclear. MATERIALS & METHODS: A retrospective study was conducted on 232 chronic hepatitis B (CHB) patients and 72 HIV-infected patients. The correlation between serum 25(OH)D3 and 25 vitamin D receptor single nucleotide polymorphisms to disease progression and interferons were evaluated. RESULTS: The 25(OH)D3 was associated with HBV infection and progression...
September 2017: Biomarkers in Medicine
Karthikeyan Muthusamy, Selvaraman Nagamani
Pharmacogenetics and pharmacogenomics have become presumptive with advancements in next-generation sequencing technology. In complex diseases, distinguishing the feasibility of pathogenic and neutral disease-causing variants is a time consuming and expensive process. Recent drug research and development processes mainly rely on the relationship between the genotype and phenotype through Single nucleotide polymorphisms (SNPs). The SNPs play an indispensable role in elucidating the individual's vulnerability to disease and drug response...
February 12, 2018: Journal of Molecular Graphics & Modelling
Julia M Kubiak, Guri Grimnes, Kevin D Cashman, Elena Kamycheva, Kirsten Dowling, Zuzana Skrabáková, Rolf Jorde
OBJECTIVE: Evaluate the effects of serum 25-hydroxyvitamin D (25(OH)D) levels, vitamin D binding protein (DBP) and genetic factors on C3-epimerization of 25(OH)D and follow the tracking of the epimer during one year. DESIGN: Cross-sectional and longitudinal study. METHODS: Data from eight previously conducted, Tromsø based studies (3 observational, 5 randomized controlled trials) were combined. 25(OH)D serum samples were re-analyzed with a LC-MS/MS method that also resolves and measures the metabolite C3-epi-25(OH)D3...
February 21, 2018: Clinical Biochemistry
Letícia de Paula Scalioni, Betânia Rodrigues Dos Santos, Poli Mara Spritzer, Cristiane Alves Villela-Nogueira, Lia Laura Lewis-Ximenez, Priscila Pollo-Flores, Eliane Bordalo Cathalá Esberard, Carlos Eduardo Brandão-Mello, Elisabeth Lampe, Livia Melo Villar
Potential relationship of vitamin D, vitamin D receptor (VDR), and vitamin D binding protein (DBP) have been suggested in the pathophysiology of hepatitis C virus (HCV) infection. The aim of this observational study is to determine vitamin D levels, and VDR and DBP genetic polymorphism according demographic and laboratory data in chronic HCV patients (CHC).A total of 148 CHC patients gave serum samples for testing 25-hydroxyvitamin D (25 (OH)D) level by immunochemiluminometric assay (<20 ng/mL defined as deficient) and donated blood samples to allelic discrimination analysis using TaqMan assays...
February 2018: Medicine (Baltimore)
Yusuf Aytac Tohma, Selin Akad, Eser Colak, Sevsen Kulaksizoglu, Mesut Akyol, Yunus Kasim Terzi, Emel Ebru Ozcimen, Sertac Esin, Feride Iffet Sahin
PURPOSE: We aimed to investigate the association of vitamin D receptor (VDR) gene TaqI single nucleotide polymorphism (SNPs) with serum lead (Pb) levels in maternal and umbilical cord blood. MATERIALS AND METHODS: Eighty-one patients who lived in Konya, Turkey for the last 3 years and had delivery at Başkent University Konya Hospital in 2016 were included in this study. Venous blood samples were drawn from each volunteer immediately before giving birth to determine the maternal Pb levels and VDR SNPs...
February 20, 2018: Journal of Maternal-fetal & Neonatal Medicine
S Surendran, A Adaikalakoteswari, P Saravanan, I A Shatwaan, J A Lovegrove, K S Vimaleswaran
Background: Vitamin B12 is an essential micronutrient in humans needed for health maintenance. Deficiency of vitamin B12 has been linked to dietary, environmental and genetic factors. Evidence for the genetic basis of vitamin B12 status is poorly understood. However, advancements in genomic techniques have increased the knowledge-base of the genetics of vitamin B12 status. Based on the candidate gene and genome-wide association (GWA) studies, associations between genetic loci in several genes involved in vitamin B12 metabolism have been identified...
2018: Genes & Nutrition
Rolf Jorde, Guri Grimnes
BACKGROUND/OBJECTIVES: In observational, but not interventional, studies there are strong associations between serum 25-hydroxyvitamin D (25(OH)D) and serum lipids. The purpose of the present study was to examine potential causes of this association. SUBJECTS/METHODS: A total of 17,411 subjects participating in the seventh survey of the Tromsø Study were included in the cross-sectional study; 5384 subjects who participated in both the sixth and seventh survey were included in the longitudinal study; 2365 subjects who participated in both the fourth and seventh survey were included in the genetic study; and 479 subjects with impaired glucose tolerance were included in the vitamin D binding protein (DBP) analyses...
February 12, 2018: European Journal of Clinical Nutrition
Mayar O Ali, Mohamed A El-Adl, Hussam M M Ibrahim, Youssef Y Elseedy, Mohamed A Rizk, Sabry A El-Khodery
Vitamin D plays a vital role in calcium homeostasis, growth, and immunoregulation. Because little is known about the vitamin D receptor (VDR) gene in cattle, the aim of the present investigation was to present the molecular characterization of exons 5 and 6 of the VDR gene in Holstein cows. DNA extraction, genomic sequencing, phylogenetic analysis, synteny mapping and single nucleotide gene polymorphism analysis of the VDR gene were performed to assess blood samples collected from 50 clinically healthy Holstein cows...
February 5, 2018: Research in Veterinary Science
Agata Hanna Bryk, Ewa Wypasek, Krzysztof Plens, Magdalena Awsiuk, Anetta Undas
INTRODUCTION: Single nucleotide polymorphisms (SNP) in genes encoding proteins involved in metabolism and action of vitamin K antagonists (VKA) affect anticoagulation stability. We investigated how those polymorphisms influence bleeding rates in patients following venous thromboembolism (VTE). MATERIALS AND METHODS: In 324 patients following unprovoked VTE, 143 (44%) on warfarin and 181 (56%) on acenocoumarol, we recorded bleedings within the preceding 24 months...
February 9, 2018: Vascular Pharmacology
Catherine A McCarty, Michael J Fuchs, Allan Lamb, Pat Conway
SIGNIFICANCE: The American Academy of Ophthalmology currently recommends against routine genetic testing for complex diseases such as age-related macular degeneration (AMD.) The results of this study demonstrate that patients are very interested in predictive genetic testing for AMD, find the information useful, and make behavioral changes as a result of the information. PURPOSE: The goal of this project was to conduct a pilot AMD genomic medicine study. METHODS: Eligible patients were aged 50 to 65 years with no personal history of AMD...
February 8, 2018: Optometry and Vision Science: Official Publication of the American Academy of Optometry
Rabab Ali, Iman Fawzy, Ihsan Mohsen, Ahmad Settin
BACKGROUND: Vitamin D deficiency conferred strongest susceptibility to pathogenesis of type 1 diabetes mellitus (T1DM). Altered gene expression and function have strong effect on VDR gene polymorphism. OBJECTIVES: We aimed to check for the association of two single nucleotide polymorphisms (SNPs) in VDR gene (Fok-I and Bsm-I) with T1DM in Saudi children. SUBJECTS AND METHODS: Cross-sectional study included 100 T1DM Saudi children, plus 102 unrelated healthy subjects...
February 8, 2018: Journal of Clinical Laboratory Analysis
Fatma Ebru Yucel, Ozden Kamıslı, Ceren Acar, Mert Sozen, Mehmet Tecellioğlu, Cemal Ozcan
Objective: Genetic and environmental factors are important in the development of the multiple sclerosis (MS). Vitamin D shows its effects on the immune system with the vitamin D receptor (VDR) in the nucleus. Single nucleotide polymorphisms (SNPs) in the VDR gene can lead to alterations in vitamin D functions and metabolism.Taq I, Apa I, Fok I and Bsm I polymorphisms and MS associations have been investigated in many studies. VDR gene polymorphism has not been previously studied in patients with familial MS...
February 2018: Medical Archives
Jennifer S Graves, Lisa F Barcellos, Steve Simpson, Anita Belman, Rui Lin, Bruce V Taylor, Anne-Louise Ponsonby, Terence Dwyer, Lauren Krupp, Emmanuelle Waubant, Ingrid A F van der Mei
BACKGROUND: While common variant non-HLA (human leukocyte antigen) alleles have been associated with MS risk, their role in disease course is less clear. We sought to determine whether established multiple sclerosis (MS) genetic susceptibility factors are associated with relapse rate in children and an independent cohort of adults with MS. METHODS: Genotyping was performed for 182 children with MS or clinically isolated syndrome with high risk for MS from two Pediatric MS Centers...
January 2018: Multiple Sclerosis and related Disorders
Juliane Houcken, Christina Degenhart, Klaus Bender, Jochem König, Lara Frommer, George J Kahaly
Context: Single nucleotide polymorphisms (SNP) of various genes increase susceptibility to monoglandular autoimmunity. Scarce data are available in autoimmune polyglandular syndromes (APS). Objective: Evaluate potential associations of eight SNP with APS. Setting: Academic referral endocrine clinic. Patients: A total of 543 patients with APS, monoglandular autoimmunity and controls. Intervention: The SNP protein tyrosine phosphatase non-receptor type 22 (PTPN22) rs2476601 (+1858), cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) rs3087243 (CT60) and rs231775 (AG49), Vitamin D Receptor (VDR) rs1544410 (Bsm I), rs7975232 (Apa I), rs731236 (Taq I), tumor necrosis factor alpha rs1800630 (-863) and Interleukin-2 receptor alpha rs10795791 were tested by single base extension in all subjects...
February 1, 2018: Journal of Clinical Endocrinology and Metabolism
Hannah Takahashi, Alex J Cornish, Amit Sud, Philip J Law, Ben Kinnersley, Quinn T Ostrom, Karim Labreche, Jeanette E Eckel-Passow, Georgina N Armstrong, Elizabeth B Claus, Dora Ll'yasova, Joellen Schildkraut, Jill S Barnholtz-Sloan, Sara H Olson, Jonine L Bernstein, Rose K Lai, Minouk J Schoemaker, Matthias Simon, Per Hoffmann, Markus M Nöthen, Karl-Heinz Jöckel, Stephen Chanock, Preetha Rajaraman, Christoffer Johansen, Robert B Jenkins, Beatrice S Melin, Margaret R Wrensch, Marc Sanson, Melissa L Bondy, Clare Turnbull, Richard S Houlston
To examine for a causal relationship between vitamin D and glioma risk we performed an analysis of genetic variants associated with serum 25-hydroxyvitamin D (25(OH)D) levels using Mendelian randomisation (MR), an approach unaffected by biases from confounding. Two-sample MR was undertaken using genome-wide association study data. Single nucleotide polymorphisms (SNPs) associated with 25(OH)D levels were used as instrumental variables (IVs). We calculated MR estimates for the odds ratio (OR) for 25(OH)D levels with glioma using SNP-glioma estimates from 12,488 cases and 18,169 controls, using inverse-variance weighted (IVW) and maximum likelihood estimation (MLE) methods...
February 5, 2018: Scientific Reports
Yukiko Tomioka, Shusuke Numata, Makoto Kinoshita, Hidehiro Umehara, Shin-Ya Watanabe, Masahito Nakataki, Yoshimi Iwayama, Tomoko Toyota, Masashi Ikeda, Hidenaga Yamamori, Shinji Shimodera, Atsushi Tajima, Ryota Hashimoto, Nakao Iwata, Takeo Yoshikawa, Tetsuro Ohmori
BACKGROUND: Alterations in one-carbon metabolism have been associated with schizophrenia, and vitamin B6 is one of the key components in this pathway. METHODS: We first conducted a case-control study of serum pyridoxal levels and schizophrenia in a large Japanese cohort (n = 1276). Subsequently, we conducted a meta-analysis of association studies (n = 2125). Second, we investigated whether rs4654748, which was identified in a genome-wide association study as a vitamin B6-related single nucleotide polymorphism, was genetically implicated in patients with schizophrenia in the Japanese population (n = 10 689)...
February 2, 2018: Journal of Psychiatry & Neuroscience: JPN
Massimo Mezzavilla, Sara Tomei, Fadi Alkayal, Motasem Melhem, Maisa M Ali, Monira Al-Arouj, Abdullah Bennakhi, Osama Alsmadi, Naser Elkum
BACKGROUND: Differences in the concentrations of circulating 25-hydroxyvitamin D [25(OH)D] are associated with a wide range of health outcomes; however, most studies on genetic variants that impact 25(OH)D levels have been conducted in European populations. Here we aimed to identify common genetic variants that affect vitamin D concentrations in individuals of self-reported Arab ethnicity. METHODS: The study included 1151 Arab subjects living in Kuwait. Common variants of single-nucleotide polymorphisms and genes previously associated with vitamin D levels, such as GC, PDE3B, CYP2R1, and NADSYN1, were genotyped...
January 30, 2018: Journal of Translational Medicine
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