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Single nucleotide polymorphism and metabolism

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https://www.readbyqxmd.com/read/28430929/promoter-polymorphism-rs886205-genotype-interacts-with-dna-methylation-of-the-aldh2-regulatory-region-in-alcohol-dependence
#1
Hansi Pathak, Helge Frieling, Stefan Bleich, Alexander Glahn, Annemarie Heberlein, Mani Haschemi Nassab, Thomas Hillemacher, Alexandra Burkert, Mathias Rhein
Aims: Aldehyde dehydrogenase 2 (ALDH2) protects cells from ethanol toxicity by metabolizing acetaldehyde. We studied the single nucleotide polymorphism (SNP) rs886205s located between a negative and a positive regulating promoter element in the ALDH2 gene. The negative regulatory region was already associated with differential DNA methylation in the two allele variations of rs886205 SNP. Another CpG island, in the positive regulatory region of the ALDH2 promoter, extends through the SNP rs886205 and a nuclear receptor response element...
May 1, 2017: Alcohol and Alcoholism: International Journal of the Medical Council on Alcoholism
https://www.readbyqxmd.com/read/28423480/the-effect-of-high-dose-vitamin-d-supplementation-on-muscular-function-and-quality-of-life-in-postmenopausal-women-a-randomized-controlled-trial
#2
G Grimnes, N Emaus, K D Cashman, R Jorde
OBJECTIVE: Observational studies have suggested positive associations between serum 25-hydroxyvitamin D (25(OH)D) levels and muscular strength, balance and quality of life. Our aim was to examine whether high-dose vitamin D supplementation would improve these measures as compared to standard-dose vitamin D, as well as the possible muscular effects of Single Nucleotide Polymorphisms (SNPs) in genes encoding vitamin D-related enzymes. DESIGN: A 12-month randomized, double-blind, controlled trial where the participants received daily elemental calcium (1,000 mg) plus vitamin D3 (800 IU)...
April 19, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28420126/novel-genetic-variants-associated-with-child-refractory-esophageal-stricture-with-food-allergy-by-exome-sequencing
#3
Min Yang, Min Xiong, Huan Chen, Lanlan Geng, Peiyu Chen, Jing Xie, Shui Qing Ye, Ding-You Li, Sitang Gong
BACKGROUND: Refractory esophageal stricture (RES) may be attributed to food allergy. Its etiology and pathogenesis are not fully understood. Identification of novel genetic variants associated with this disease by exome sequencing (exome-seq) may provide new mechanistic insights and new therapeutic targets. METHODS: To identify new and novel disease-associating variants, whole-exome sequencing was performed on an Illumina NGS platform in three children with RES as well as food allergy...
April 15, 2017: Nutrients
https://www.readbyqxmd.com/read/28416512/investigating-the-genetic-architecture-of-the-pr-interval-using-clinical-phenotypes
#4
Jonathan D Mosley, M Benjamin Shoemaker, Quinn S Wells, Dawood Darbar, Christian M Shaffer, Todd L Edwards, Lisa Bastarache, Catherine A McCarty, Will Thompson, Christopher G Chute, Gail P Jarvik, David R Crosslin, Eric B Larson, Iftikhar J Kullo, Jennifer A Pacheco, Peggy L Peissig, Murray H Brilliant, James G Linneman, John S Witte, Josh C Denny, Dan M Roden
BACKGROUND: One potential use for the PR interval is as a biomarker of disease risk. We hypothesized that quantifying the shared genetic architectures of the PR interval and a set of clinical phenotypes would identify genetic mechanisms contributing to PR variability and identify diseases associated with a genetic predictor of PR variability. METHODS AND RESULTS: We used ECG measurements from the ARIC study (Atherosclerosis Risk in Communities; n=6731 subjects) and 63 genetically modulated diseases from the eMERGE network (Electronic Medical Records and Genomics; n=12 978)...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28415694/single-nucleotide-polymorphisms-in-cidec-gene-are-associated-with-metabolic-syndrome-components-risks-and-antihypertensive-drug-efficacy
#5
Hui Wang, Yun Ti, Jin-Bo Zhang, Jie Peng, Hui-Min Zhou, Ming Zhong, Yan-Qiu Xing, Yun Zhang, Wei Zhang, Zhi-Hao Wang
The association of single nucleotide polymorphisms rs1053239 and rs2479 of cell death-inducing DFFA-like effector c with the risk of metabolic syndrome and its components, and with the efficacy and cost-effectiveness of antihypertensive drugs was investigated. Totally 1064 subjects with metabolic syndrome and 1099 controls of Chinese Han nationality were recruited. Clinical assessment was conducted with medication records collected at baseline and during 5-year follow-up. Carriers of rs2479 A allele were at higher risk to develop elevated fasting glucose than non-carriers (P = 0...
March 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/28415562/genome-wide-association-study-of-high-altitude-pulmonary-edema-in-a-han-chinese-population
#6
Xun Li, Tianbo Jin, Mingxia Zhang, Hua Yang, Xuewen Huang, Xiaobo Zhou, Wenchao Huang, Lipeng Qin, Longli Kang, Ming Fan, Suzhi Li
A two-stage genome-wide association study (GWAS) was performed to identify and analyze genes and single nucleotide polymorphisms (SNPs) associated with high-altitude pulmonary edema (HAPE) in a Han Chinese patient population. In the first stage, DNA samples from 68 patients with recurrent HAPE were scanned using Affymetrix SNP Array 6.0 Chips, and allele frequencies were compared to those of 84 HapMap CHB samples to identify candidate SNPs. In the second stage, the 77 identified candidate SNPs were examined in an independent cohort of samples from 199 HAPE patients and 304 controls...
March 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28408884/effect-of-cyp3a4-%C3%A2-1g-and-cyp3a5-%C3%A2-3-polymorphisms-on-pharmacokinetics-and-pharmacodynamics-of-ticagrelor-in-healthy-chinese-subjects
#7
Shuaibing Liu, Xiangfen Shi, Xin Tian, Xiaojian Zhang, Zhiyong Sun, Liyan Miao
Ticagrelor is the first reversible, direct-acting, potent P2Y12 receptor antagonist in management of acute coronary syndromes. It is rapidly absorbed and extensively metabolized. AR-C124910XX, the major active metabolite, antagonizes the P2Y12 receptor at approximately equal potency. The metabolism of ticagrelor to AR-C124910XX involves CYP3A4 and CYP3A5. CYP3A polymorphisms have been well documented, and CYP3A4(∗)1G (g.20230G>A, rs2242480) and CYP3A5(∗)3 (g.6986A>G, rs776746) are the most important single nucleotide polymorphisms in Chinese...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28402008/genome-wide-association-studies-reveal-additional-related-loci-for-fatty-acid-composition-in-a-duroc-pig-multigenerational-population
#8
Shuji Sato, Yoshinobu Uemoto, Takashi Kikuchi, Sachiko Egawa, Kimiko Kohira, Tomomi Saito, Hironori Sakuma, Satoshi Miyashita, Shinji Arata, Keiichi Suzuki
The aim of the present study was to detect quantitative trait loci affecting fatty acid composition in back fat and intramuscular fat in a Duroc pig population comprising seventh-generation pedigrees using genome-wide association studies (GWAS). In total, 305 animals were genotyped using single nucleotide polymorphisms (SNPs) array and five selected SNPs from regions containing known candidate genes related to fatty acid synthesis or metabolism. In total, 24 genome-wide significant SNP regions were detected in 12 traits, and 76 genome-wide suggestive SNP regions were detected in 33 traits...
April 12, 2017: Animal Science Journal, Nihon Chikusan Gakkaihō
https://www.readbyqxmd.com/read/28401323/exploring-single-nucleotide-polymorphisms-previously-related-to-obesity-and-metabolic-traits-in-pediatric-onset-type-2-diabetes
#9
América Liliana Miranda-Lora, Miguel Cruz, Jesús Aguirre-Hernández, Mario Molina-Díaz, Jorge Gutiérrez, Samuel Flores-Huerta, Miguel Klünder-Klünder
AIMS: To evaluate the association of 64 obesity-related polymorphisms with pediatric-onset type 2 diabetes and other glucose- and insulin-related traits in Mexican children. METHODS: Case-control and case-sibling designs were followed. We studied 99 patients with pediatric-onset type 2 diabetes, their siblings (n = 101) without diabetes, 83 unrelated pediatric controls and 137 adult controls. Genotypes were determined for 64 single nucleotide polymorphisms, and a possible association was examined between those genotypes and type 2 diabetes and other quantitative traits, after adjusting for age, sex and body mass index...
April 12, 2017: Acta Diabetologica
https://www.readbyqxmd.com/read/28401071/identification-of-a-new-single-nucleotide-polymorphism-within-the-apolipoprotein-a5-gene-which-is-associated-with-metabolic-syndrome
#10
Samaneh Salehi, Modjtaba Emadi-Baygi, Majdaddin Rezaei, Roya Kelishadi, Parvaneh Nikpour
BACKGROUND: Metabolic syndrome (MetS) is a common disorder which is a constellation of clinical features including abdominal obesity, increased level of serum triglycerides (TGs) and decrease of serum high-density lipoprotein-cholesterol (HDL-C), elevated blood pressure, and glucose intolerance. The apolipoprotein A5 (APOA5) is involved in lipid metabolism, influencing the level of plasma TG and HDL-C. In the present study, we aimed to investigate the associations between four INDEL variants of APOA5 gene and the MetS risk...
2017: Advanced Biomedical Research
https://www.readbyqxmd.com/read/28400302/decreased-comfort-food-intake-and-allostatic-load-in-adolescents-carrying-the-a3669g-variant-of-the-glucocorticoid-receptor-gene
#11
Danitsa Marcos Rodrigues, Roberta Sena Reis, Roberta Dalle Molle, Tania Diniz Machado, Amanda Brondani Mucellini, Andressa Bortoluzzi, Rudineia Toazza, Juliano Adams Pérez, Giovanni Abrahão Salum, Marilyn Agranonik, Luciano Minuzzi, Robert D Levitan, Augusto Buchweitz, Alexandre Rosa Franco, Gisele Gus Manfro, Patrícia Pelufo Silveira
BACKGROUND: The A3669G single nucleotide polymorphism (SNP) of the glucocorticoid receptor (GR) gene NR3C1 is associated with altered tissue sensitivity to glucocorticoids (GCs). GCs modulate the food reward circuitry and are implicated in increased intake of palatable foods, which can lead to the metabolic syndrome and obesity. We hypothesized that presence of the G variant of the A3669G SNP would affect preferences for palatable foods and alter metabolic, behavioural, and neural outcomes...
April 8, 2017: Appetite
https://www.readbyqxmd.com/read/28400155/histaminergic-gene-polymorphisms-associated-with-sedation-in-clozapine-treated-patients
#12
Anssi Solismaa, Olli Kampman, Leo-Pekka Lyytikäinen, Niko Seppälä, Merja Viikki, Nina Mononen, Terho Lehtimäki, Esa Leinonen
Sedation is a common adverse effect of clozapine treatment, which may be partly related to clozapine binding to histamine receptors in the central nervous system. The objective of this study was to investigate whether single nucleotide polymorphisms (SNPs) in the histaminergic system are associated with sedation in clozapine-treated patients. The study population comprised 237 clozapine-treated, Finnish, Caucasian patients that were diagnosed with schizophrenia and 176 were genotyped using Illumina HumanCoreExome-12 BeadChip...
April 8, 2017: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28399814/sirt6-polymorphism-rs117385980-is-associated-with-longevity-and-healthy-aging-in-finnish-men
#13
Katariina Hirvonen, Hannele Laivuori, Jari Lahti, Timo Strandberg, Johan G Eriksson, Peter Hackman
BACKGROUND: Sirtuin-6 (SIRT6) is involved in various crucial cellular pathways, being a key regulator of telomere structure, DNA repair, metabolism, transcriptional control and the NF-kappa B pathway. Sirt6 knock-out mice have been reported to develop typical features of aging and senescence at the age of 2-3 weeks and die within 4 weeks. The aim of this study was to investigate whether sequence variations of SIRT6 are associated with aging and longevity in Finnish men. METHODS: The sample of this study consisted of 43 longer-living and healthy males and 92 male control subjects who have died of natural causes at an average age of 66,6 (±4,1) years and who belonged to the Helsinki Birth Cohort Study (HBCS)...
April 11, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28397233/-analysis-of-association-of-genetic-polymorphisms-of-micrornas-with-ischemic-stroke
#14
Haogang Zhu, Hongjin Zhang, Ligang Bao, Meifen Dai
OBJECTIVE: To assess the association of single nucleotide polymorphisms of hsa-miR-196a2, hsa-miR-149, hsa-miR-146a, hsa-miR-499 with susceptibility to ischemic stroke. METHODS: Taqman-PCR and DNA sequencing assays were employed to determine the genotypes of the 4 loci among 510 patients and 523 controls. And their association with the disease was assessed. RESULTS: Analysis showed that smoking, diabetes, hypertension, BMI index and abnormal serum lipid metabolism were significantly associated with ischemic stroke, and that rs2910164 was significantly associated with the disease in codominant (CG vs...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28396685/associations-of-two-obesity-related-single-nucleotide-polymorphisms-with-adiponectin-in-chinese-children
#15
Lijun Wu, Liwang Gao, Xiaoyuan Zhao, Meixian Zhang, Jianxin Wu, Jie Mi
Purpose. Genome-wide association studies have found two obesity-related single-nucleotide polymorphisms (SNPs), rs17782313 near the melanocortin-4 receptor (MC4R) gene and rs6265 near the brain-derived neurotrophic factor (BDNF) gene, but the associations of both SNPs with other obesity-related traits are not fully described, especially in children. The aim of the present study is to investigate the associations between the SNPs and adiponectin that has a regulatory role in glucose and lipid metabolism. Methods...
2017: International Journal of Endocrinology
https://www.readbyqxmd.com/read/28394398/genetic-variants-of-ppar-gamma-coactivator-1b-augment-nlrp3-mediated-inflammation-in-gouty-arthritis
#16
Wan-Chun Chang, Yeong-Jian Jan Wu, Wen-Hung Chung, Yun-Shien Lee, See-Wen Chin, Ting-Jui Chen, Yu-Sun Chang, Der-Yuan Chen, Shuen-Iu Hung
Objective.: Gout is characterized by recurrent attacks of arthritis with hyperuricaemia and urate crystal-induced inflammation. Although urate transporters are known as risk factors, the immunogenetics of gouty inflammation remains unclear. This study aimed to investigate the genetic association between immune/metabolism regulators and gout. Methods.: We enrolled 448 gout patients and 943 population controls from Taiwan; all were Han Chinese. We screened association between gout and 22 variants of candidate genes, including NLRP3 , caspase 1, peroxisome proliferator-activated receptor-γ, proliferator-activated receptor-γ coactivator 1α ( PPARGC1A ) and 1β ( PPARGC1B )...
March 1, 2017: Rheumatology
https://www.readbyqxmd.com/read/28393390/a-novel-association-test-for-multiple-secondary-phenotypes-from-a-case-control-gwas
#17
Debashree Ray, Saonli Basu
In the past decade, many genome-wide association studies (GWASs) have been conducted to explore association of single nucleotide polymorphisms (SNPs) with complex diseases using a case-control design. These GWASs not only collect information on the disease status (primary phenotype, D) and the SNPs (genotypes, X), but also collect extensive data on several risk factors and traits. Recent literature and grant proposals point toward a trend in reusing existing large case-control data for exploring genetic associations of some additional traits (secondary phenotypes, Y) collected during the study...
April 10, 2017: Genetic Epidemiology
https://www.readbyqxmd.com/read/28391539/interactions-between-dietary-acrylamide-intake-and-genes-for-ovarian-cancer-risk
#18
Janneke G F Hogervorst, Piet A van den Brandt, Roger W L Godschalk, Frederik-Jan van Schooten, Leo J Schouten
Some epidemiological studies observed a positive association between dietary acrylamide intake and ovarian cancer risk but the causality needs to be substantiated. By analyzing gene-acrylamide interactions for ovarian cancer risk for the first time, we aimed to contribute to this. The prospective Netherlands Cohort Study on diet and cancer includes 62,573 women, aged 55-69 years. At baseline in 1986, a random subcohort of 2589 women was sampled from the total cohort for a case cohort analysis approach. Dietary acrylamide intake of subcohort members and ovarian cancer cases (n = 252, based on 20...
April 8, 2017: European Journal of Epidemiology
https://www.readbyqxmd.com/read/28385800/an-exome-chip-association-analysis-in-chinese-reveals-a-functional-missense-variant-of-gckr-that-regulates-fgf21-levels
#19
Chloe Yy Cheung, Clara S Tang, Aimin Xu, Chi-Ho Lee, Ka-Wing Au, Lin Xu, Carol Hy Fong, Kelvin Hm Kwok, Wing-Sun Chow, Yu-Cho Woo, Michele Yuen, Stacey S Cherny, JoJo Hai, Bernard My Cheung, Kathryn Tan, Tai-Hing Lam, Hung-Fat Tse, Pak-Chung Sham, Karen Sl Lam
Fibroblast growth factor 21 (FGF21) is increasingly recognized as an important metabolic regulator of glucose homeostasis. Here, we conducted an exome-chip association analysis by genotyping 5169 Chinese individuals from a community-based cohort and two clinic-based cohorts. A custom Asian Exome-chip was used to detect genetic determinants influencing circulating FGF21 levels. Single-variant association analysis interrogating 70,444 single nucleotide polymorphisms identified a novel locus, GCKR, significantly associated with circulating FGF21 levels at genome-wide significance...
April 6, 2017: Diabetes
https://www.readbyqxmd.com/read/28383355/influence-of-cyp2c8-polymorphisms-on-imatinib-steady-state-trough-level-in-chronic-myeloid-leukemia-and-gastrointestinal-stromal-tumor-patients
#20
Michiel C Verboom, Loes Visser, Sander Kouwen, Jesse J Swen, Jeroen Diepstraten, Ward F Posthuma, Hans Gelderblom, Daniëlle van Lammeren, Erik B Wilms
Imatinib trough levels have been associated with its clinical effects. During chronic use of imatinib, CYP2C8 becomes an important metabolizing enzyme because of cytochrome P450 3A4 (CYP3A4) autoinhibition. Single nucleotide polymorphisms (SNPs) in CYP2C8 may affect imatinib trough levels. This study investigates the effect of common CYP2C8 polymorphisms [*1B (rs7909236), *1C (rs17110453), *3 (rs11572080 and rs10509681), and *4 (rs1058930)] on steady-state trough levels imatinib during chronic imatinib use in 43 patients with chronic myeloid leukemia or gastrointestinal stromal tumors...
April 5, 2017: Pharmacogenetics and Genomics
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