Association between CLPTM1L-TERT rs401681 polymorphism and pancreatic cancer risk among Chinese Han population

Pancreatic cancer is one of the human cancers with the highest fatality rates; however, the etiology still remains largely unknown. Recently, one genome-wide association study (GWAS), conducted exclusively among women of European ancestry, has discovered that cleft lip and palate transmembrane 1-like telomerase reverse transcriptase (CLPTM1L-TERT) rs401681 polymorphism was significantly associated with pancreatic cancer risk. Few studies have been conducted to evaluate whether this finding could be generalized to Chinese people. In the current study, we explored the association between rs401681 polymorphism and risk of pancreatic cancer in a case–control study of 1,587 Chinese people (including 766 pancreatic cancer cases and 821 healthy controls). Under the log-additive model, each additional copy of minor allele T was associated with a 1.24-fold increased risk of pancreatic cancer (odds ratio (OR) = 1.24, 95 % confidence interval (CI) 1.06–1.44, P = 5.61 × 10⁻³). While compared with individuals with the CC genotype, the OR for developing pancreatic cancer was 1.09 (95 % CI 0.88–1.34) among those with the CT genotype and 1.66 (95 % CI 1.20–2.29) among those with the TT genotype. Additional adjustments for the confounding factors did not change the results materially. Our data suggests that the T allele of rs401681 in CLPTM1L-TERT locus predisposes its carriers to pancreatic cancer, and further research into the function of CLPTM1L-TERT locus and its potential biological mechanism association may be warranted.