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Single nucleotide polymorphism and metabolism

Cyndya A Shibao, Jorge E Celedonio, Robyn Tamboli, Reem Sidani, Latisha Love-Gregory, Terri Pietka, Yanhua Xiong, Yan Wei, Naji N Abumrad, Nada A Abumrad, Charles Robb Flynn
Context: Abnormal fatty acid (FA) metabolism contributes to diabetes and cardiovascular disease. The FA receptor CD36 has been linked to risk of metabolic syndrome. In rodents CD36 regulates various aspects of fat metabolism but whether it has similar actions in humans is unknown. We examined impact of a coding single-nucleotide polymorphism in CD36 on post-prandial hormone and bile acid (BA) responses. Objective: To examine if the minor allele (G) of coding CD36 variant rs3211938 (G/T) which reduces CD36 level by approximately 50% influences hormonal responses to a high-fat meal (HFM)...
March 12, 2018: Journal of Clinical Endocrinology and Metabolism
Oscar Illescas, Juan C Gomez-Verjan, Lizbeth García-Velázquez, Tzipe Govezensky, Miriam Rodriguez-Sosa
Human macrophage migration inhibitory factor (MIF) is a cytokine that plays a role in several metabolic and inflammatory processes. Single nucleotide polymorphism (SNP) -173 G/C (rs755622) on MIF gene has been associated with numerous diseases, such as arthritis and cancer. However, most of the reports concerning the association of MIF with these and other pathologies are inconsistent and remain quite controversial. Therefore, we performed a meta-analysis from 96 case-control studies on -173 G/C MIF SNP and stratified the data according to the subjects geographic localization or the disease pathophysiology, in order to determine a more meaningful significance to this SNP...
2018: Frontiers in Genetics
Maha Saber-Ayad, Shaista Manzoor, Ahmed El-Serafy, Ibrahim Mahmoud, Salah Abusnana, Nabil Sulaiman
BACKGROUND: Statin-induced myopathy has been linked to the C allele of a single nucleotide polymorphism (SNP) (rs4149056) of SLCO1B1 gene. This effect is more significant, but not restricted to simvastatin. Many studies have included European, American, African and Southeast Asian ancestries, but few were carried out on Middle Eastern population. AIM: To detect the prevalence of SLCO1B1 rs4149056 (521T>C) in Emirati population. METHOD: We recruited 282 Emiratis through the UAE National Diabetes and Lifestyle Project...
March 10, 2018: Diabetes Research and Clinical Practice
Silva Hovsepian, Shaghayegh Haghjooy Javanmard, Marjan Mansourian, Mahin Hashemipour, Mohamadhasan Tajadini, Roya Kelishadi
Background: Genetically, predisposed children are considered as at-risk individuals for cardiovascular disease. In this study, we aimed to compare the frequency of four-lipid regulatory polymorphism in obese and normal-weight children with and without cardiometabolic risk factors. Materials and Methods: In this nested case-control study, 600 samples of four groups of participants consisted of those with normal weight with and without cardiometabolic risk factors and obese with and without cardiometabolic risk factors...
2018: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
Dong-Li Zhu, Xiao-Feng Chen, Wei-Xin Hu, Shan-Shan Dong, Bing-Jie Lu, Yu Rong, Yi-Xiao Chen, Hao Chen, Hlaing Nwe Thynn, Nai-Ning Wang, Yan Guo, Tie-Lin Yang
RANKL is a key regulator involved in bone metabolism, and a drug target for osteoporosis. The clinical diagnosis and assessment of osteoporosis are mainly based on bone mineral density (BMD). Previous powerful genome-wide association studies (GWASs) have identified multiple intergenic single nucleotide polymorphisms (SNPs) located over 100 kb upstream of RANKL and 65 kb downstream of AKAP11 at 13q14.11 for osteoporosis. Whether these SNPs exert their roles on osteoporosis through RANKL is unknown. In this study, we conducted integrative analyses combining expression quantitative trait locus (eQTL), genomic chromatin interaction (Hi-C), epigenetic annotation and a series of functional assays...
March 12, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral 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
Kathleen E Hupfeld, David E Vaillancourt, Rachael D Seidler
Mobility and memory declines with aging can limit independence. Several single-nucleotide polymorphisms have been associated with cognitive performance, but studies investigating motor function are scant. We examined 4 single-nucleotide polymorphisms involved in dopaminergic metabolism: BDNF (Val66Met), DRD3 (Ser9Gly), DBH (C>T), and COMT (Val158Met) for their relationship to motor and cognitive function in healthy older adults (n = 4605 and n = 7331) who participated in the U.S. Health and Retirement Study...
February 10, 2018: Neurobiology of Aging
Ahsan F Bairam, Mohammed I Rasool, Fatemah A Alherz, Maryam S Abunnaja, Amal A El Daibani, Saud A Gohal, Katsuhisa Kurogi, Yoichi Sakakibara, Masahito Suiko, Ming-Cheh Liu
Previous studies have demonstrated the involvement of sulfoconjugation in the metabolism of catecholamines and serotonin. The current study aimed to clarify the effects of single nucleotide polymorphisms (SNPs) of human SULT1A3 and SULT1A4 genes on the enzymatic characteristics of the sulfation of dopamine, epinephrine, norepinephrine and serotonin by SULT1A3 allozymes. Following a comprehensive search of different SULT1A3 and SULT1A4 genotypes, twelve non-synonymous (missense) coding SNPs (cSNPs) of SULT1A3/SULT1A4 were identified...
March 7, 2018: Biochemical Pharmacology
MingXia Yu, Tao Cao, Dan Yu, Fusheng Huang
Genetic susceptibility to high mercury body burden has been suggested as an autism risk factor in children. Metallothionein III (MT3) is the brain-specific form of the metallothionein family, which plays a key role in metal metabolism. We therefore looked for genetic variations in the MT3 gene that might increase the predisposition to autism. DNA was extracted from 132 autistic children and 132 age and gender-matched unrelated controls. All the samples were analyzed for nine single nucleotide polymorphisms (SNPs) with minor allele frequency > 10% in the MT3 gene...
March 9, 2018: Neurotoxicity Research
Mohammad Abu Zaid, Wambui G Gathirua-Mwangi, Chunkit Fung, Patrick O Monahan, Omar El-Charif, Annalynn M Williams, Darren R Feldman, Robert J Hamilton, David J Vaughn, Clair J Beard, Ryan Cook, Sandra K Althouse, Shirin Ardeshir-Rouhani-Fard, Paul C Dinh, Howard D Sesso, Lawrence H Einhorn, Sophie D Fossa, Lois B Travis
Background: Testicular cancer survivors (TCS) are at significantly increased risk for cardiovascular disease (CVD), with metabolic syndrome (MetS) an established risk factor. No study has addressed clinical and genetic MetS risk factors in North American TCS. Patients and Methods: TCS were aged <55 years at diagnosis and received first-line chemotherapy. Patients underwent physical examination, and had lipid panels, testosterone, and soluble cell adhesion molecule-1 (sICAM-1) evaluated. A single nucleotide polymorphism in rs523349 (5-α-reductase gene, SRD5A2 ), recently implicated in MetS risk, was genotyped...
March 2018: Journal of the National Comprehensive Cancer Network: JNCCN
Sonal Singh, Caitrin W McDonough, Yan Gong, Wael A Alghamdi, Meghan J Arwood, Salma A Bargal, Leanne Dumeny, Wen-Yi Li, Mai Mehanna, Bradley Stockard, Guang Yang, Felipe A de Oliveira, Natalie C Fredette, Mohamed H Shahin, Kent R Bailey, Amber L Beitelshees, Eric Boerwinkle, Arlene B Chapman, John G Gums, Stephen T Turner, Rhonda M Cooper-DeHoff, Julie A Johnson
BACKGROUND: Thiazide and thiazide-like diuretics are first-line medications for treating uncomplicated hypertension. However, their use has been associated with adverse metabolic events, including hyperglycemia and incident diabetes mellitus, with incompletely understood mechanisms. Our goal was to identify genomic variants associated with thiazide-like diuretic/chlorthalidone-induced glucose change. METHODS AND RESULTS: Genome-wide analysis of glucose change after treatment with chlorthalidone was performed by race among the white (n=175) and black (n=135) participants from the PEAR-2 (Pharmacogenomic Evaluation of Antihypertensive Responses-2)...
March 9, 2018: Journal of the American Heart Association
Sarah E Kleinstein, Patrick R Shea, Luisa M Stamm, Mark Sulkowski, David B Goldstein, Susanna Naggie
In the ION-4 trial, hepatitis C virus relapse was rare, occurring only in African American patients, 80% receiving efavirenz for human immunodeficiency virus infection. We observed no indication that CYP2B6 polymorphisms associated with increased plasma efavirenz exposure explained the relapses.
March 7, 2018: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
Jihye Kim, Peter Kraft, Kaitlin A Hagan, Laura B Harrington, Sara Lindstroem, Christopher Kabrhel
INTRODUCTION: Venous thromboembolism (VTE) is highly heritable. Physical activity, physical inactivity and body mass index (BMI) are also risk factors, but evidence of interaction between genetic and environmental risk factors is limited. METHODS: Data on 2,134 VTE cases and 3,890 matched controls were obtained from the Nurses' Health Study (NHS), Nurses' Health Study II (NHS II), and Health Professionals Follow-up Study (HPFS). We calculated a weighted genetic risk score (wGRS) using 16 single nucleotide polymorphisms associated with VTE risk in published genome-wide association studies (GWAS)...
March 8, 2018: Genetic Epidemiology
Jacob L Steenwyk, Antonis Rokas
In recent years, copy number (CN) variation has emerged as a new and significant source of genetic polymorphisms contributing to the phenotypic diversity of populations. CN variants are defined as genetic loci that, due to duplication and deletion, vary in their number of copies across individuals in a population. CN variants range in size from 50 base pairs to whole chromosomes, can influence gene activity, and are associated with a wide range of phenotypes in diverse organisms, including the budding yeast Saccharomyces cerevisiae ...
2018: Frontiers in Microbiology
Veronica Tisato, Giovanni Zuliani, Marco Vigliano, Giovanna Longo, Eugenia Franchini, Paola Secchiero, Giorgio Zauli, Elvezia Maria Paraboschi, Ajay Vikram Singh, Maria Luisa Serino, Beatrice Ortolani, Amedeo Zurlo, Cristina Bosi, Antonio Greco, Davide Seripa, Rosanna Asselta, Donato Gemmati
Cognitive impairments of different aetiology share alterations in iron and lipid homeostasis with mutual relationships. Since iron and cholesterol accumulation impact on neurodegenerative disease, the associated gene variants are appealing candidate targets for risk and disease progression assessment. In this light, we explored the role of common single nucleotide polymorphisms (SNPs) in the main iron homeostasis genes and in the main lipoprotein transporter gene (APOE) in a cohort of 765 patients with dementia of different origin: Alzheimer's disease (AD) n = 276; vascular dementia (VaD), n = 255; mild cognitive impairment (MCI), n = 234; and in normal controls (n = 1086)...
2018: PloS One
L Xie, X Lv, Y Sun, Y Tong, S Zhang, Y Deng
BACKGROUND: The scavenger receptor class B type I (SCARB1) gene plays an important role in high-density lipoprotein cholesterol (HDL-C) metabolism and may be involved in the pathogenesis of coronary artery disease (CAD). The rs5888 (C/T) single-nucleotide polymorphism (SNP) in the SCARB1 gene is functional, and we therefore examined the association between rs5888 and CAD. METHODS: The rs5888 genotypes were analyzed in 287 Chinese patients with CAD and 367 controls via the high-resolution melting curve (HRM) method...
March 7, 2018: Herz
Donhyun Shin, Jae-Don Oh, Kyung-Hye Won, Ki-Duk Song
Objective: Non-synonymous single nucleotide polymorphisms (nsSNPs) were identified nsSNPs in Berkshire selective sweep regions and investigated Berkshire-specific nsSNPs to discover genetic nsSNP mechanisms that were potentially associated with Berkshire domestication and meat quality. We further used bioinformatics tools to predict damaging amino-acid substitutions in Berkshire-related nsSNPs. Methods: NsSNPs were examined in whole genome resequencing data of 110 pigs, including 14 Berkshire pigs, generated using the Illumina Hiseq2000 platform to identify variations that might affect meat quality in Berkshire pigs...
March 2, 2018: Asian-Australasian Journal of Animal Sciences
Vanessa Santos Viterbo, Bryan Irvine Mamuad Lopez, Hyun Sung Kang, Hoonseop Kim, Choul Won Song, Kang Seok Seo
Objective: Genome wide association study was conducted to identify and validate candidate genes associated with fatty acid composition of pork. Methods: A total of 480 purebreed Duroc pigs were genotyped using IlluminaPorcine60k bead chips while the association test was implemented following Genome-wide Rapid Association using Mixed Model and Regression-Genomic Control (GRAMMAR-GC) approach. Results: A total of 25, 29, and 16 single nucleotide polymorphisms (SNPs) were significantly associated with stearic (18:0), oleic (18:1) and saturated fatty acids (SFA), respectively...
March 2, 2018: Asian-Australasian Journal of Animal Sciences
Meng-Zhu Lu, Qian-Qian Ang, Xiang Zhang, Lan-Fang Zhang, Xiu-Hua Yao, Hong Lv, Xiao-Dong Zheng, Wen-Sheng Lu
A keloid is the process of skin healing, collagen synthesis and metabolism of the loss of normal control in a sustained hyperactive state, resulting in excessive proliferation of collagen fibers. A large-scale genome-wide association study (GWAS) has identified multiple single nucleotide polymorphisms (SNPs) in the 3q22.3 loci that are associated with keloids in a Japanese population. However, the associations of SNPs in 3q22.3 with keloids were not confirmed in a selected Chinese population by a replication study...
2018: American Journal of Translational Research
Maria Wielsøe, Hans Eiberg, Mandana Ghisari, Peder Kern, Ole Lind, Eva Cecilie Bonefeld-Jørgensen
The present study investigated the effects of single nucleotide polymorphisms (SNPs) in xenobiotic and steroid hormone-metabolizing genes in relation to breast cancer risk and explored possible effect modifications on persistent organic pollutants (POPs) and breast cancer associations. The study also assessed effects of Greenlandic BRCA1 founder mutations. Greenlandic Inuit women (77 cases and 84 controls) were included. We determined two founder mutations in BRCA1: Cys39Gly (rs80357164) and 4684delCC, and five SNPs in xenobiotic and oestrogen-metabolizing genes: CYP17A1 -34T>C (rs743572), CYP19A1 *19C>T (rs10046), CYP1A1 Ile462Val (rs1048943), CYP1B Leu432Val (rs1056836) and COMT Val158Met (rs4680)...
March 6, 2018: Basic & Clinical Pharmacology & Toxicology
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