BACKGROUND The rs2736100 single nucleotide polymorphism (SNP) is located in the intron 2 of human telomerase reverse transcriptase (hTERT) gene. Recent genome-wide association studies (GWAS) have consistently supported the strong association between this SNP and risk for multiple cancers. Given the important role of the hTERT gene and this SNP in cancer biology, we hypothesize that rs2736100 ma...

BACKGROUND Resistin is a circulating adipokine with insulin-antagonizing effects. The aim of this study was to investigate the relationship between the single nucleotide polymorphism (SNP) -420C > G in the resistin gene with serum resistin levels, insulin resistance, and risk of gestational diabetes (GDM) in Iranian population. METHOD 75 GDM patients and 70 healthy pregnant women were enrolle...

AIM The purpose of this study was to evaluate the influence of polymorphisms of the eNOS gene on the clinical status of patients with normal and high tension glaucoma. METHODS 266 Polish Caucasian patients with primary open angle glaucoma were studied. Of the 266, 156 had normal tension glaucoma (NTG) and 110 high tension glaucoma (HTG). DNA material was isolated from peripheral venous blood ...

Recent evidence has shown that the microRNA polymorphism may play an important role in the susceptibility to congenital heart disease (CHD). A potentially functional SNP rs4938723 (T>C) in the promoter region of pri-miR-34b/c might affect transcription factor GATA binding and therefore pri-miR-34b/c expression. We genotyped the pri-miR-34b/c polymorphism in a case-control study of 590 patients ...

BACKGROUND MicroRNAs (miRNAs) are a class of small non-coding RNAs to regulate cell differentiation, proliferation, development, and apoptosis. The single nucleotide polymorphism (SNP) rs895819 is located at the terminal loop of pre-miR-27a. Here, we aimed to investigate whether SNP rs895819 was associated with the development of renal cell cancer (RCC) in a Chinese population. METHODS In thi...

The RAD18 gene, located on the human chromosome 3p24-p25, plays a crucial role in post-replication repair (PRR) in various organisms from yeast to humans. In the human RAD18 gene, one coding single nucleotide polymorphism (SNP) at codon 302, encoding either arginine (Arg, CGA) or glutamine (Gln, CAA), was reported. Although the molecular function of the RAD18 protein came to be elucidated, the ...

INTRODUCTION Atrial fibrillation (AF) is a common arrhythmia with evidence of genetic susceptibility. The rs2200733 single-nucleotide polymorphism (SNP) in a non-coding region on chromosome 4q25 has been associated with AF. The purpose of this case-control study was to examine the possible association of the rs2200733 polymorphism with AF in the Greek population. METHODS A total of 295 indivi...

We used a within-subject, cross-over design study to compare the impact of 4-weeks' resistance (RT) versus endurance (END) training on vascular function. subsequently explored association intra-individual effects RT END function with single nucleotide polymorphism (SNP) NOS3 gene. Thirty-five healthy males (21 ± 2 years old) were genotyped for rs2070744 SNP and completed both modalities. Partic...

SNP (single-nucleotide polymorphism) of rs10903129 near the TMEM (transmembrane protein) 57 locus has been associated with TC (total cholesterol) in a previous GWAS (genome-wide association study), but the association of TMEM57 rs873308 SNP and serum lipid levels has not been previously reported. The current study was undertaken to detect the association of the TMEM57 rs873308 SNP and several e...

The global emergence of extended-spectrum beta-lactamase-producing Escherichia coli (ESBL-E. coli), mainly causing urinary tract infections (UTI), is a major threat to human health. ESBL-E. sequence type (ST) 131 the dominating clone worldwide, especially its subclade C2. Patients developing recurrent UTI (RUTI) due ST131 C2 appear have an increased risk infections. We thus compared whole genom...