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SNP diabetes

Yanfen Zhang, Ruocen Bai, Chong Liu, Chunyan Ma, Xin Chen, Jun Yang, Dandan Sun
Diabetes mellitus (DM) has become the third major chronic non-communicable disease affecting global public health, following cancer and cardiovascular and cerebrovascular diseases. Although previous studies have found a correlation between microRNA (miRNA) and the development of DM, thus far, most reviews have focused on the studies describing the changes in miRNA expression profiles and the mechanisms by which miRNAs-induce DM. However, reviews summarizing the effect of miRNA single nucleotide polymorphisms (SNP) on the developmental stages of DM and its complications are still needed...
December 7, 2018: Clinical Genetics
Chenyue Qian, Heming Guo, Xiaohong Chen, Aiming Shi, Sicheng Li, Xin Wang, Jie Pan, Chen Fang
Aims: The programmed death- (PD-) 1/PD-1 ligand (PD-L) pathway plays an important role in regulating T cell activation and maintaining peripheral tolerance. Accumulated studies showed that PD-1/PD-L1 pathway was involved in the development of type 1 diabetes (T1DM). Since the genetic background of type 1 diabetes differs greatly among the different population, we aim to investigate the association of genetic polymorphisms in PD-1 and PD-L1 with T1DM susceptibility in Chinese population...
2018: Journal of Diabetes Research
Irmante Derkac, Ingrida Januleviciene, Ramune Sepetiene, Rasa Valiauga, Dzilda Velickiene
BACKGROUND Diabetic retinopathy has a varied prevalence, severity, and rate of progression. The aim of this study was to determine whether the single nucleotide polymorphisms (SNPs) of the gene encoding a 135-kD centrosomal protein CEP135 rs4865047 and the gene encoding the type 2 NPY protein NPY2R rs1902491 were associated with the development of rapidly progressive proliferative diabetic retinopathy in patients with type 1 diabetes mellitus. MATERIAL AND METHODS Patients with rapidly progressive proliferative diabetic retinopathy (n=48) were included in the study group...
December 8, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Anica Herlyn, Ruby Kala Prakasam, Sabine Peschel, Stephan Allgeier, Bernd Köhler, Karsten Winter, Rudolf F Guthoff, Thomas Mittlmeier, Oliver Stachs
Introduction: Diabetic neuroosteoarthropathy (DNOAP) early symptoms are unspecific, mimicking general infectious symptoms and rendering a diagnosis challenging. Consequently, unfavourable outcomes occur frequently, with recurrent foot ulceration, infectious complications, and eventually amputation. Corneal confocal microscopy (CCM) of the subbasal nerve plexus (SNP) is used to detect early peripheral neuropathy in diabetic patients without diabetic retinopathy. This pilot study was designed to determine if specific SNP changes manifest in severe DNOAP in comparison to a healthy control group...
2018: Journal of Diabetes Research
Denis M Nyaga, Mark H Vickers, Craig Jefferies, Jo K Perry, Justin M O'Sullivan
Type 1 diabetes (T1D) is a chronic metabolic disorder characterized by the autoimmune destruction of insulin-producing pancreatic islet beta cells in genetically predisposed individuals. Genome-wide association studies (GWAS) have identified over 60 risk regions across the human genome, marked by single nucleotide polymorphisms (SNPs), which confer genetic predisposition to T1D. There is increasing evidence that disease-associated SNPs can alter gene expression through spatial interactions that involve distal loci, in a tissue- and development-specific manner...
2018: Frontiers in Genetics
Monica Longo, Mesk Alrais, Esther H Tamayo, Francesca Ferrari, Fabio Facchinetti, Jerrie S Refuerzo, Sean C Blackwell, Baha M Sibai
BACKGROUND: Inositols (INOs) supplementation during pregnancy, specifically the combination of myo-inositol (MI) and D-chiro-inositol (DCI), has been reported to improve vascular parameters in women with gestational diabetes mellitus. We demonstrated previously that offspring born to pregnant mice lacking endothelial nitric oxide synthase (eNOS+/-) gene have hypertension (HTN) as adults and when fed high fat diet (HFD) develop a metabolic syndrome (MS) phenotype. OBJECTIVE: Our aim was to evaluate if INOs treatment in pregnancy complicated by MS improves the vascular and metabolic profile in mice offspring programmed in utero to develop HTN and MS...
December 3, 2018: American Journal of Obstetrics and Gynecology
Xia Dong, Dan Yang, Rui Han, Wei Yang, Wei Pang, Dianping Song, Rou Shi
AIMS: To investigate the distribution of vitamin D receptor fokI gene polymorphism in Yunnan Han population, and to explore the relationship between SNP of fokI and type 2 diabetic kidney disease. METHODS: We included 276 individuals of Han population of Yunnan in this study: 91 type 2 diabetes patients without kidney disease (DM group), their duration of diabetes is more than 10 years, 89 type 2 diabetes patients with diabetic kidney disease (DKD group), their duration of diabetes is less than 10 years and 96 healthy controls (NC group)...
2018: International Journal of Molecular Epidemiology and Genetics
Sarah Skinner, Philippe Connes, Dominique Sigaudo-Roussel, Ming Lo, Kiao Ling Liu, Elie Nader, Audrey Josset-Lamaugarny, Emmanuelle Charrin, Cyril Martin, Camille Romanet-Faes, Mor Diaw, Vincent Pialoux, Bérengère Fromy
OBJECTIVE: Type 2 diabetes (T2D)-related vascular dysfunction and hemorheological abnormalities could possibly be amplified by sickle cell trait (SCT). These alterations could potentially increase the risk of vascular complications in individuals with combined T2D and SCT. Therefore, this study used a mouse model to determine whether vascular function and blood rheology were more severely altered in combined T2D and SCT than in T2D or SCT alone. METHODS: Townes transgenic mice with or without SCT received a 12-week high fat high sucrose or standard diet to create models of combined T2D-SCT, T2D, SCT, and controls...
December 1, 2018: Microvascular Research
Wenjin Yan, Zheng Hao, Shuyan Tang, Jin Dai, Liming Zheng, Pengjun Yu, Wenqiang Yan, Xiao Han, Xingquan Xu, Dongquan Shi, Shiro Ikegawa, Huajian Teng, Qing Jiang
Developmental dysplasia of the hip (DDH) is one of the most common congenital malformations and covers a spectrum of hip disorders from mild dysplasia to irreducible dislocation. The pathological mechanisms of DDH are poorly understood, which hampers the development of diagnostic tools and treatments. To gain insight into its disease mechanism, we explored the potential biological processes that underlie DDH by integrating pathway analysis tools and performing a genome-wide association study (GWAS). A total of 406 DDH-associated genes (P< 0...
December 3, 2018: Clinical Genetics
Jiao Wang, Man Ki Kwok, Shiu Lun Au Yeung, Albert Martin Li, Hugh Simon Lam, June Yue Yan Leung, Lai Ling Hui, Gabriel Matthew Leung, Catherine Mary Schooling
Inadequate sleep could contribute to type 2 diabetes, but observational studies are inconsistent and open to biases, particularly from confounding. We used Mendelian randomization (MR) to obtain an unconfounded estimate of the effect of sleep duration on diabetes, fasting glucose (FG) and hemoglobin A1c (HbA1c), and an observation study to assess differences by sex. Using MR, we assessed the effects of genetically instrumented sleep on diabetes, based on 68 single nucleotide polymorphism (SNP), applied to the DIAbetes Genetics Replication and meta-analysis case (n = 26,676)-control (n = 132,532) study and on FG and HbA1c, based on 55 SNPs, applied to the Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC) study of FG (n = 122,743) and HbA1c (n = 123,665)...
November 30, 2018: Preventive Medicine
Soo-Hwan Kim, Eun-Sol Lee, Jinho Yoo, Yangseok Kim
AIMS: The purpose of our investigation was to identify the genetic and clinical risk factors of type 2 diabetes mellitus (T2DM) and to predict the incidence of T2DM in Korean adults aged 40-69 at follow-up intervals of 5, 7, and 10years. METHODS: Korean Genome and Epidemiology Study (KoGES) cohort data (n=10,030) were used to develop T2DM prediction models. Both clinical-only and integrated (clinical factors+genetic factors) models were derived using the Cox proportional hazards model...
November 23, 2018: Primary Care Diabetes
Kevin J Galinsky, Yakir A Reshef, Hilary K Finucane, Po-Ru Loh, Noah Zaitlen, Nick J Patterson, Brielin C Brown, Alkes L Price
Recent studies have examined the genetic correlations of single-nucleotide polymorphism (SNP) effect sizes across pairs of populations to better understand the genetic architectures of complex traits. These studies have estimated <mml:math xmlns:mml=""> <mml:msub> <mml:mi>ρ</mml:mi> <mml:mi>g</mml:mi> </mml:msub> </mml:math> , the cross-population correlation of joint-fit effect sizes at genotyped SNPs. However, the value of <mml:math xmlns:mml="http://www...
November 25, 2018: Genetic Epidemiology
Yadi Lin, Qi Yuan, Fangze Qian, Chao Qin, Qiang Cao, Meilin Wang, Haiyan Chu, Zhengdong Zhang
OBJECTIVE: Interleukins are important molecules involved in tumor formation. In this study, the association between renal cell carcinoma (RCC) risk and single nucleotide polymorphisms (SNPs) on IL-4/IL-13/IL-4R was assessed. METHODS: We recruited 620/623 cases/controls and conducted a case-control study. Five tagSNPs (i.e., IL-4R rs8832, IL-4R rs4787951, IL-13 rs1881457, IL-13 rs2066960 and IL-13 rs2069744) were selected. Odds ratios (ORs) with their 95% confidence intervals (CIs) were obtained to appraise the association between SNPs and RCC susceptibility...
November 22, 2018: Gene
XiaoCan Jia, YongLi Yang, YuanCheng Chen, Zhenhua Xia, Weiping Zhang, Yu Feng, Yifan Li, Jiebing Tan, Chao Xu, Qiang Zhang, Hongwen Deng, XueZhong Shi
BACKGROUND: Although genome-wide association studies (GWAS) have been extensively applied in identifying SNP associated with metabolic diseases, the SNPs identified by this prevailing univariate approach only explain a small percentage of the genetic variance of traits. The extensive previous studies have repeatedly shown type2 diabetes (T2D), obesity and coronary artery disease (CAD) have common genetic mechanisms and the overlapping pathophysiological pathways. METHODS: The genetic pleiotropy-informed metaCCA method was applied on summary statistics data from three independent meta-GWAS summary statistics to identify shared variants and pleiotropic effect between T2D, obesity and CAD...
October 31, 2018: International Journal of Cardiology
Gerard Marshall Raj, Jayanthi Mathaiyan, Mukta Wyawahare, Rekha Priyadarshini
Background This work aimed to evaluate the influence of single nucleotide polymorphisms (SNPs) in the SLC47A1 (922-158G>A; rs2289669) and SLC47A2 (-130G>A; rs12943590) genes on the relative change in HbA1c in type 2 diabetes mellitus (T2DM) patients of South India who are taking metformin as monotherapy. It also aims to study the effects of these SNPs on the dose requirement of metformin for glycemic control and the adverse effects of metformin. Methods Diabetes patients on metformin monotherapy were recruited based on the eligibility criteria (n=105)...
December 19, 2018: Drug Metabolism and Personalized Therapy
Esra Bilgin, Birsen Can Demirdöğen, Aysun Türkanoğlu Özçelik, Şeref Demirkaya, Orhan Adalı
OBJECTIVES: Oxidative stress is a known risk factor for the pathogenesis of atherosclerosis, the main cause of ischemic stroke. Glutathione S-transferase (GST) omega-1 and omega-2, members of phase II enzymes, play a role in the antioxidant system. The single nucleotide polymorphisms (SNPs), C419A and A424G in GST omega genes can cause a decrease in enzyme activity. The aim of this study was to investigate the possible association between these polymorphisms and ischemic stroke risk in a Turkish population...
November 10, 2018: Neurological Research
Ming-Sheng Teng, Semon Wu, Leay-Kiaw Er, Lung-An Hsu, Hsin-Hua Chou, Yu-Lin Ko
Background: Visceral adiposity indicators and the product of triglyceride and fasting plasma glucose (TyG) index-related parameters are effective surrogate markers for insulin resistance (IR) and are predictors of metabolic syndrome and diabetes mellitus. However, their genetic determinants have not been previously reported. Pleiotropic associations of LIPC variants have been observed in lipid profiles and atherosclerotic cardiovascular diseases. We aimed to investigate LIPC polymorphisms as the genetic determinants of adiposity status, visceral adiposity indicators and TyG index-related parameters...
2018: Diabetology & Metabolic Syndrome
Karishma Kanhya Lal, Rabail Jarwar, Sabah Farhat, Seyda Sadia Fatima
OBJECTIVE: To evaluate and correlate vaspin levels and genotype frequency in gestational diabetes mellitus. METHODS: The case-control study was conducted at Aga Khan University, Karachi, from November 2015 to December 2016, and comprised pregnant women in their second trimester with gestational diabetes mellitus. Healthy pregnant women with similar characteristics were enrolled as the control group. Tetra arms amplification system for vaspin gene was performed. SPSS 21 was used for data analysis...
November 2018: JPMA. the Journal of the Pakistan Medical Association
Sanghoon Moon, Young Lee, Sungho Won, Juyoung Lee
BACKGROUND: Metabolic syndrome is a risk factor for type 2 diabetes and cardiovascular disease. We identified common genetic variants that alter the risk for metabolic syndrome in the Korean population. To isolate these variants, we conducted a multiple-genotype and multiple-phenotype genome-wide association analysis using the family-based quasi-likelihood score (MFQLS) test. For this analysis, we used 7211 and 2838 genotyped study subjects for discovery and replication, respectively...
November 1, 2018: Human Genomics
Wilcelly Machado-Silva, Audrey C Tonet-Furioso, Lucy Gomes, Cláudio Córdova, Clayton Franco Moraes, Otávio Toledo Nóbrega
INTRODUCTION: The impact of type 2 diabetes mellitus raises interest in understanding its evolutionary-genetic basis, to unveil yet unknown pathways that may have immediate medical relevance. The HNF1β gene (hepatocyte nuclear factor-1 beta) is a transcription factor expressed in tissues such as liver, kidney, genital tract and pancreas that is known to be essential for insulin secretion and glucose balance. We tested the association of allelic variants produced by the HNF1β gene (rs4430796) variation with the clinical and biochemical profile of elderly Brazilian outpatients with metabolic disorders...
July 2018: Revista da Associação Médica Brasileira
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