Association of single nucleotide polymorphisms in ERCC2 gene and their haplotypes with esophageal squamous cell carcinoma

摘要: Esophageal squamous cell carcinoma (ESCC), one of the leading causes cancer death worldwide, occurs at a relatively high frequency in China. To investigate whether common excision repair cross-complementing rodent group 2 (ERCC2) variants (rs3916874 G>C, rs238415 C>G, rs1618536 G>A, rs1799793 and rsl3181 A>C) were associated with ESCC risk, case–control study was conducted, including 405 cases age sex 1:1 matched cancer-free controls. The result showed that AC/CC genotypes an increased risk (OR: 1.45, 95 % CI: 1.05–2.00), two ERCC2 haplotypes Grs3916874Crs238415Grs1618536Grs1799793Crsl3181 (Hap5) Grs3916874Grs238415Ars1618536Grs1799793Crsl3181 (Hap7) 2.16, 1.27–3.57 for Hap5 OR: 3.72; 1.89–6.63 Hap7, respectively), while Grs3916874Grs238415Grs1618536Grs1799793Arsl3181 (Hap4) decreased 0.47, 0.35–0.71). Gene–environment interaction analysis by multifactor dimensionality reduction (MDR) software there among rs238415, rs1618536, family history P value under 0.0001 3.23: 2.37–4.40). These results suggested genetic variations gene ESCC, significant between polymorphisms etiology ESCC.