Abstract
Genome-wide association studies have identified that TERT gene was associated with telomere length and age-related diseases. However, little study directly focused on the association between TERT gene polymorphisms and risk of coronary heart disease (CHD). We conducted a case-control study to examine the effect of TERT polymorphisms on CHD risk among 596 CHD patients and 603 healthy controls from China. Five significant single nucleotide polymorphisms (SNP) in TERT were selected and genotyped using Sequenom Mass-ARRAY technology. Odds ratios (OR) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression adjusting for age and gender. Allelic model analysis revealed that for TERT rs10069690, allele frequency distributions differed between cases and controls (OR= 1.267, 95%CI = 1.018-1.576; p = 0.034). Genotypic model analysis revealed that genotype frequency distributions of rs10069690 differed between cases and controls after adjusted by age and sex (TC vs. CC: adjusted OR = 1.352, 95% CI = 1.007-1.815; p = 0.045). Genetic model analysis revealed that rs10069690 was associated with an increased risk of CHD under co-dominant, dominant, over-dominant and log-additive models. After adjustments, it remained significant under over-dominant model (adjusted OR = 1.35, 95% CI = 1.01-1.81; p = 0.044). Our results shed new light on the association between telomere-related gene TERT polymorphisms and CHD susceptibility in a Chinese Han population.
Highlights
Coronary heart disease (CHD), including myocardial infarction, angina pectoris and arteriosclerosis of the coronary arteries, is the leading cause of disability and mortality world-wide [1,2,3]
We investigated the associations between five selected TERT single nucleotide polymorphisms (SNP) and risk of coronary heart disease (CHD) in a Chinese Han population
Our results suggest that the polymorphisms of TERT may play an important role in the risk of CHD in a Chinese Han population
Summary
Coronary heart disease (CHD), including myocardial infarction, angina pectoris and arteriosclerosis of the coronary arteries, is the leading cause of disability and mortality world-wide [1,2,3]. Previous studies have revealed that CHD is a complex polygenic disease, and genetic factors are crucial to an individual’s susceptibility to CHD. Genome-wide association studies (GWAS) have identified more than 40 common variants associated with the risk of CHD [5, 6]. This is not enough to explain the etiology of CHD. Researchers were still working on looking for novel susceptibility locus for CHD and replicating significant single nucleotide polymorphisms (SNP) in different populations. Loss of telomere function and infinite proliferation leads to genomic instability and chromosomal abnormalities, which may promote carcinogenesis [11]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
