Polymorphisms in human telomerase reverse transcriptase (hTERT) gene and susceptibility to gastric cancer in a Turkish population: Hospital-based case–control study

• hTERT rs2736109 G > A, rs2735940 T > C, and rs2736100 T > G were associated with risk of GC.
• Grs2736109/Trs2735940/Ars2853669/Grs2736100 haplotype was increased risk of GC.
• Further studies with larger sample size and in different populations are warranted.

Erosion of telomeres, tandem nucleotide repeats (TTAGGG)n that cap the end of eukaryotic chromosomes, has been related with carcinogenesis. The human telomerase reverse transcriptase (hTERT) gene is encoded the rate-limiting catalytic subunit of the telomerase complexes, which is essential for the protection of telomeric DNA length and chromosomal stability. The purpose of this study was to examine the effect of four functional single nucleotide polymorphisms (SNPs) of hTERT (rs2736109 G > A, rs2735940 T > C, rs2853669 A > G and rs2736100 T > G) on susceptibility to gastric cancer (GC) in Turkish population. The genotype frequency of hTERT rs2736109 G > A, rs2735940 T > C, rs2853669 A > G and rs2736100 T > G polymorphisms were determined by using a polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) and TaqMan methods in 104 subjects with GC and 209 healthy control subjects. We found that hTERT rs2736109 G > A (AA + AG vs. GG OR = 1.68 95% CI = 1.01–2.81, P = 0.04), rs2735940 T > C (CC vs. CT + TT: OR = 2.53 95% CI = 1.01–6.13, P = 0.03), and rs2736100 T > G (TT vs. TG + GG: OR = 2.27 95% CI = 1.23–4.17, P = 0.006) polymorphisms were associated with risk of GC. In the haplotype analysis, hTERT Grs2736109/Trs2735940/Ars2853669/Grs2736100 haplotype was also related with an increased risk of GC (OR = 1.75; 95% CI: 1.05–2.93, P = 0.03). Because this is the first study regarding the hTERT rs2736109 G > A, rs2735940 T > C, rs2853669 A > G and rs2736100 T > G polymorphisms and the risk of GC susceptibility in the literature, further independent studies are needed to verify our results in a larger sample sizes, as well as in patients of different populations.