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

作者：Zhang Yougai; Wang Longzhi; Wang Peng; Song Chunhua; Wang Kaijuan; Zhang Jianying; Dai Liping^*

来源：Tumor Biology, 2014, 35(5): 4225-4231.

DOI：10.1007/s13277-013-1553-x

• ERCC2
• ESCC
• Polymorphism

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

• 出版日期2014-5
• 单位郑州大学