Potentially functional polymorphisms in the ERCC2 gene and risk of esophageal squamous cell carcinoma in Chinese populations.

Zhu, Mei-Ling

He, Jing

Wang, MengYun

Sun, Meng-Hong

Jin, Li

Wang, Xiaofeng

Yang, Ya-Jun

Wang, Jiu-Cun

Zheng, Leizhen

Xiang, Jia-Qing

Wei, Qing-Yi

2019-02-01T15:29:36Z

2019-02-01T15:29:36Z

2014-01

2019-02-01T15:29:35Z

ERCC2 is indispensable for nucleotide excision repair pathway, and its functional polymorphisms may be associated with cancer risk. In a large case-control study of 1126 esophageal squamous cell carcinomas (ESCC) patients and 1131 controls, we genotyped two SNPs in ERCC2 (rs238406 G > T and rs13181 T > G) and assessed their associations with ESCC risk. We found a significantly elevated ESCC risk associated with the rs238406 T variant genotypes (adjusted OR = 1.30 and 1.24, 95% CI = 1.02-1.66 and 1.03-1.49 for TG and TG/TT, respectively, compared with GG), particularly in the subgroup of those smoked more than 16 pack-years. Multivariate logistic regression analysis suggested a possible multiplicative gene-environment interaction between rs238406 genotypes and smoking (Pinteraction = 0.026) on ESCC risk. Although no significant risk associations were observed for rs13181, further mini meta-analysis with our and 18 other published studies of 5,012 cases and 8,238 controls found evidence of an association between the rs13181 variant G allele and esophageal cancer risk (TG/GG vs. TT, OR = 1.17; 95% CI = 1.02-1.33). Interestingly, we consistently found a significant correlation between variant genotypes of these two SNPs and ERCC2 mRNA expression. These findings suggest that potentially functional SNPs in ERCC2 may contribute to ESCC risk.

srep06281

2045-2322

2045-2322

https://hdl.handle.net/10161/18030

eng

Springer Science and Business Media LLC

Scientific reports

10.1038/srep06281

Cell Line, Transformed

Humans

Carcinoma, Squamous Cell

Esophageal Neoplasms

Genetic Predisposition to Disease

Phenylalanine Hydroxylase

RNA, Messenger

Risk

Alcohol Drinking

Smoking

DNA Repair

Genotype

Polymorphism, Single Nucleotide

Middle Aged

Asian Continental Ancestry Group

China

Female

Male

Xeroderma Pigmentosum Group D Protein

Potentially functional polymorphisms in the ERCC2 gene and risk of esophageal squamous cell carcinoma in Chinese populations.

Journal article

Wei, Qing-Yi|0000-0002-3845-9445|0000-0003-4115-4439

6281

1

School of Medicine

Duke

Duke Cancer Institute

Institutes and Centers

Population Health Sciences

Basic Science Departments

Medicine, Medical Oncology

Medicine

Clinical Science Departments

Published

4