Genetic variants at 5p15 are associated with risk and early-onset of gastric cancer in Chinese populations
A partir des données d'une étude d'association sur le génome entier incluant 1 006 patients atteints d'un cancer gastrique et 2 273 témoins et à partir des données d'une étude indépendante incluant 1 681 cas et 1 705 témoins, cette étude chinoise montre une association entre des variants génétiques du chromosome 5p15 et le risque de cancer précoce de l'estomac
Genetic variants at 5p15 have been associated with multiple cancers risk, suggesting a pleiotropic effect locus for cancer. We hypothesized that genetic variants at 5p15 are important in the development of gastric cancer. To test this hypothesis, we evaluated the associations of genetic variants at 5p15 with gastric cancer based on our existing genome-wide association study (GWAS) dataset of gastric cancer (1,006 cases and 2,273 controls), and replicated two promising loci in an independent case-control study with 1,681 gastric cancer cases and 1,705 controls in a Chinese population. We found that rs10052016 was consistently associated with gastric cancer risk in GWAS discovery stage (odds ratio [OR] = 0.69, 95% confidence interval [95%CI] = 0.55-0.87) and replication stage (OR = 0.80, 95%CI = 0.68-0.94). After combining these two studies, we found that the G allele of rs10052016 (at 132-kb upstream of TERT) was significantly associated with a decreased risk of gastric cancer (OR = 0.76, 95%CI = 0.67-0.87, P = 5.35x10-5). Moreover, the protective allele of rs10052016-G was also significantly associated with late onset of gastric cancer (P = 0.013). In summary, these findings indicate that genetic variants at 5p15 may contribute to gastric cancer susceptibility and may further advance our understanding of 5p15 locus in cancer development.
http://carcin.oxfordjournals.org/content/early/2013/07/26/carcin.bgt259.abstract