Mechanisms underlying Down syndrome (DS)-related mental retardation (MR) remain poorly understood. In trisomic offspring, non-disjunction may result in the reduction to homozygosity of a susceptibility allele inherited from a heterozygous parent. Accordingly, we sought evidence for allelic non-disjunction in the GluK1 gene that encodes the critical kainite-binding glutamate receptor subunit-5, ...

The aim of this study was to examine the association between the -149C>T polymorphism of DNA methyltransferase 3B (DNMT3B) and colorectal cancer (CRC) susceptibility. A comprehensive search was conducted to identify all case-control studies of the -149C>T polymorphism of DNMT3B and CRC risk. Statistical analysis was performed with the software program Stata (version 12.0) and Review Manager (ve...

We have shown previously that a variant allele of the short-chain acyl-CoA dehydrogenase ( SCAD ) gene, 625G-->A, is present in homozygous form in 7% of control individuals and in 60% of 135 patients with elevated urinary excretion of ethylmalonic acid (EMA). We have now characterized three disease-causing mutations (confirmed by lack of enzyme activity after expression in COS-7 cells) and a ne...

BACKGROUND Several studies have investigated whether the polymorphism in the apolipoprotein A5 (APOA5) is associated with type 2 diabetes mellitus (T2DM) risk. However, those studies have produced inconsistent results. The purpose of this study was to investigate whether the APOA5 -1131T/C polymorphism (rs662799) confers significant susceptibility to T2DM using a meta-analysis. METHODS PubMed...

Vitamin D is an important molecule responsible for the development, contraction and regeneration of muscles, activates its biological functions by means receptors, vitamin receptor (VDR), which a member nuclear group. In present study, we aimed to analyze rs731236 distribution in Turkish rugby players. A total 22 male players 30 sedentary individuals (as control group) participated study. Follo...

Updated view of genetic features schizophrenia based on rare SNPs/CNVs with a huge influence disease and common SNPs small effect each allele is presented. Altogether these factors are acting to create neuropathophysiological disturbances observed in schizophrenia. Association five polymorphisms MIR137 rs1625579, DRD2/ANKK1 rs1800497, MTHFR rs1801133, DNMT3B rs2424913, СОМТ rs4680 the risk Bela...

OBJECTIVE To investigate whether a single nucleotide polymorphism (SNP) in the mitochondrial gene for NADH dehydrogenase 2 (mt-Nd2) can modulate susceptibility to type 1 diabetes in NOD mice. RESEARCH DESIGN AND METHODS NOD/ShiLtJ mice conplastic for the alloxan resistant (ALR)/Lt-derived mt-Nd2(a) allele (NOD.mt(ALR)) were created and compared with standard NOD (carrying the mt-Nd2(c) allele...

It has been hypothesized that polymorphisms in the transforming growth factor-β1 (TGF-β1) gene on chromosome 19 modify the risk for chronic obstructive pulmonary disease (COPD). However, results from previous studies are contradictory. We therefore conducted a meta-analysis of published case-control studies on the association between five common TGF-β1 polymorphisms (rs1982073, rs1800469, rs224...

Polymorphisms near the interferon lambda 3 (IFNL3) gene strongly predict clearance of hepatitis C virus (HCV) infection. We analyzed a variant (rs4803217 G/T) located within the IFNL3 mRNA 3' untranslated region (UTR); the G allele (protective allele) is associated with elevated therapeutic HCV clearance. We show that the IFNL3 3' UTR represses mRNA translation and the rs4803217 allele modulate...

Recently, case-control studies demonstrated that a TCF7L2 (transcription factor 7-like 2 gene) noncoding variant (rs7903146 T at-risk allele) was strongly associated with an increased risk of type 2 diabetes. However, the predictive value of this marker in a nonselected general population remains unknown. In this study, our aim was to assess the contribution of this variant to the prevalence an...