Fine-mapping of a region of chromosome 5p15.33 (TERT-CLPTM1L) suggests a novel locus in TERT and a CLPTM1L haplotype are associated with glioma susceptibility in a Chinese population.

摘要: Two genome-wide association studies (GWAS) have identified 5p15.33 (TERT-CLPTM1L) as one of the susceptible regions for glioma in European background. A replication research our group highlighted signals TERT gene this region a Chinese Han population. To comprehensively explore at and to refine potential causal variants smaller critical region, we conducted fine-mapping study among 983 cases 1,024 controls Using Hapmap3 datasets reference, genotyped 16 tag SNPs across 87.9-kb encompassing TERT. Significant with risk was observed rs2853677 [GG vs. GA: adjusted OR = 1.46, p 5.51 × 10(-6), GG AA: 1.72, 7.64 GA 1.96, 6.8 10(-6)] an uncommon CLPTM1L haplotype G-T-A rs4635969, rs6554759 rs414965 (haplotype frequency 0.07) associated higher compared most common G-C-G (adjusted 1.44, simulated 6.00 10(-3) under additive model). Our results indicate that sequence flanking may account GWAS susceptibility population; besides, also confers suggesting is involved etiology glioma. Additional especially those taking advantage sequencing platforms are warranted further confirm conclusions go deeper findings.