Genetic analysis of the relation of telomere length‐related gene ( RTEL1) and coronary heart disease risk

Abstract

Background

Regulator of telomere elongation helicase 1 ( RTEL1), a telomere length‐related gene, is closely linked to cancer and age‐related diseases. The aim of this study was to investigate the association between genetic polymorphisms in the RTEL1 gene and coronary heart disease (CHD) risk.

Methods

In this case–control study, which includes samples from 596 CHD patients and 603 healthy controls, five SNPs in RTEL1 were selected. The genotypes were studied using the Agena MassARRAY platform, and the statistical analyses were performed using the chi‐square and Fisher's exact tests, genetic model analysis, and haplotype analysis.

Results

In the allele model, using the chi‐square test, we found that the patients with the “G” allele of rs6010620 and the “C” allele of rs4809324 in the RTEL1 gene showed a decreased risk of CHD once the results were adjusted for age and gender. In the genetic model, logistic regression analyses revealed that the rs6010620 polymorphism conferred a decreased risk of CHD in the codominant model (OR = 0.52, 95% CI: 0.31–0.88, p = 0.007 for the “G/G” genotype) and the recessive model (OR = 0.49, 95% CI: 0.30–0.80, p = 0.004 for the “G/G” genotype). In addition, the haplotype “G _rs6010620T _rs6010621T _rs4809324” of RTEL1 was associated with a 0.03‐fold decreased risk of CHD once the results were adjusted for age and gender (OR = 0.03, 95% CI: 0.01–0.12, p < 0.001).

Conclusion

Our findings have demonstrated that the genetic variants of RTEL1 may have a protective role against CHD risk.