The GG genotype of telomerase reverse transcriptase at genetic locus rs2736100 is associated with human atherosclerosis risk in the Han Chinese population.

Lei Feng,Shi-Yan Nian,Jihong Zhang

doi:10.1371/journal.pone.0085719

Abstract

A single nucleotide polymorphism (SNP) in the second intron of human TERT (hTERT), rs2736100, acts as a critical factor in hTERT synthesis and activation. The rs2736100 SNP was found to be associated with susceptibility to many cancers. Recently, inhibition of telomerase and marked telomere shortening were determined to be closely associated with the increasing severity of atherosclerosis. The association between the SNP of rs2736100 and the presence of atherosclerosis was evaluated in 84 atherosclerosis patients and 257 healthy controls using multivariate logistic regression analyses. The proportion of the GG genotype in atherosclerosis patients (17.9%) was significantly higher than in the control group (9.7%). Eight variables, including age, gender, cholesterol, high density lipoprotein, homocysteine, total bilirubin, indirect bilirubin, and rs2736100 GG genotype, were associated with atherosclerosis with odds ratios of 1.88, 2.11, 1.66, 0.23, 1.27, 1.29, 1.53, and 1.74, respectively, using multivariate logistic regression analyses. Homozygous GG was demonstrated to be associated with the presence of atherosclerosis in our population.

Highlights

A telomere is a region of repetitive nucleotide sequences at the end of each chromatid of most eukaryotic organisms that protects the end of the chromosome from deterioration or from fusing with neighboring chromosomes [1]
Reports have shown that rs2736100 acts as a critical factor in human Telomerase reverse transcriptase (TERT) (hTERT) synthesis, in charge of hTERT activation [10]
Poprotein B, lipoprotein (a), uric acid, homocysteine, total bilirubin, c-glutamyltransferase, and indirect bilirubin levels were higher, whereas high-density lipoprotein was lower in the control group, which is consistent with current reports [22,25]

Summary

Introduction

A telomere is a region of repetitive nucleotide sequences at the end of each chromatid of most eukaryotic organisms that protects the end of the chromosome from deterioration or from fusing with neighboring chromosomes [1]. Genomes would progressively lose information and be truncated after cell division because enzymes that duplicate DNA cannot continue their duplication all the way to the end of chromosomes [1,2,3]. Telomeres will be consumed during cell division [1,2,3,4]. The enzyme consists of a protein component with reverse transcriptase activity, encoded by the gene, and an RNA component that serves as a template for the telomere repeat [5,6]. Telomerase expression plays a role in cellular senescence because it is normally repressed in postnatal somatic cells, resulting in progressive shortening of telomeres [5,6]

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