Abstract
In this study, we investigated the association between the polymorphisms of telomerase reverse transcriptase (TERT) gene and the risk of chronic hepatitis B (CHB) in a Chinese Han population. Four single nucleotide polymorphisms (SNPs) in TERT (rs10069690, rs2242652, rs2853677 and rs2853676) were genotyped from 224 CHB patients and 300 healthy controls using the Sequenom Mass-ARRAY platform. We used genetic model, haplotype analyses, chi-square test, logistic regression analysis to evaluate the association between SNPs and CHB risk. The relative risk was estimated by odd ratios (ORs) and 95% confidence intervals (CIs). We found that rs10069690 was significantly associated with an increased CHB risk in the dominant model (adjusted OR = 1.70, 95% CI: 1.06–2.71, P = 0.031) and additive model (adjusted OR = 1.62, 95% CI: 1.09–2.41, P = 0.018). The haplotype “TA” (rs10069690 and rs2242652) was found to be associated with an increased risk of CHB (adjusted OR = 1.58, 95% CI: 1.05–2.38, P = 0.027). Our results suggested potential genetic contributes for TERT in CHB development in a Chinese Han population. Future functional and association studies with larger sample sizes are required to confirm these findings.
Highlights
Hepatitis B virus (HBV) infection is a serious public health problem worldwide, with approximately 2 billion people having a history of HBV infection and 350 million of them suffering from chronic HBV infection [1]
We investigated the association between the polymorphisms of telomerase reverse transcriptase (TERT) gene and the risk of chronic hepatitis B (CHB) in a Chinese Han population
In this case-control study, we investigated the association between single nucleotide polymorphisms (SNPs) in the TERT gene and the risk of CHB in a Chinese Han population
Summary
Hepatitis B virus (HBV) infection is a serious public health problem worldwide, with approximately 2 billion people having a history of HBV infection and 350 million of them suffering from chronic HBV infection [1]. Studies indicated that host genetic factors play a critical role in the development of HBV infection, especially single nucleotide polymorphisms (SNPs), is regarded to be one of the determinants for this clinical heterogeneity [3, 4]. Previous studies demonstrated that a number of polymorphisms in telomere biology gene (telomerase reverse transcriptase, TERT) are significantly associated with telomere length [11,12,13]. The activation of telomerase plays a key role in cellular immortalization and the malignant transformation of human cells. This activation requires the TERT catalyst [16]. To date, little study is reported on the association between genetic variations in the TERT gene and the risk of CHB. We conducted a case-control study consisting of 242 CHB patients and 300 healthy controls to investigate the association between the four common genetic variants in TERT and the risk CHB in a Chinese Han population
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