J Cancer 2019; 10(16):3624-3631. doi:10.7150/jca.32810

Research Paper

Validation study of susceptibility loci for esophageal squamous cell carcinoma identified by GWAS in a Han Chinese subgroup from Eastern China

Kai-Lai Wang1*, Xiang-Liu Chen1*, Lan Lei1*, Pei Li2*, Lian-Lian Hong1, Xian-Chong Huang1, Wei-Min Mao3,4, Kenichi Mukaisho5, Zhi-Qiang Ling1,4✉

1. Zhejiang Cancer Institute, Zhejiang Cancer Hospital, No.1 Banshan East Rd., Gongshu District, Hangzhou 310022, P.R.China.
2. Department of Pathophysiology, School of Basic Medical Sciences, Zhengzhou University, Zhengzhou, 450052, China.
3. Department of Thoracic Tumor Surgery, Zhejiang Cancer Hospital, No.1 Banshan East Rd., Gongshu District, Hangzhou 310022, P.R.China.
4. Zhejiang Key Laboratory of Diagnosis & Treatment Technology on Thoracic Oncology (Lung and Esophagus), Hangzhou 310022, China.
5. Department of Pathology, Division of Molecular Diagnostic Pathology, Shiga University of Medical Science, Otsu, Shiga, Japan.
*Kai-Lai Wang, Xiang-Liu Chen, Lan Lei and Pei Li wish it to be known that, in their opinion, the first four authors should be regarded as joint-first authors.

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Citation:
Wang KL, Chen XL, Lei L, Li P, Hong LL, Huang XC, Mao WM, Mukaisho K, Ling ZQ. Validation study of susceptibility loci for esophageal squamous cell carcinoma identified by GWAS in a Han Chinese subgroup from Eastern China. J Cancer 2019; 10(16):3624-3631. doi:10.7150/jca.32810. Available from http://www.jcancer.org/v10p3624.htm

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Abstract

Esophageal squamous cell carcinoma (ESCC) occurs at a relatively high frequency in China and is one of the most prevalent cancers in the world. Genome-wide association studies (GWAS) have identified 24 single-nucleotide polymorphisms (SNPs) that could be associated with ESCC in Chinese patients. This retrospective study aimed to validate the association between these 24 SNPs and ESCC in a Han Chinese subgroup from East China. A total of 2280 and 1900 patients with ESCC (case group) and non-esophageal cancer (control group) were included from a single center. Genotyping of the 24 polymorphisms was performed using the Sequenom MassARRAY system. Unconditional logistic regression analyses were conducted for every polymorphism. It was found that rs12188136 (P=0.027, OR=1.158, 95% CI=1.016-1.319 for AG/AA) was associated with ESCC. Binary logistic regression analyses revealed a significant negative association of rs875339 in RORA (P=0.014, OR=0.762, 95% CI=0.613-0.947 for TT/CC). Under the dominant model, rs6854472 was slightly associated with ESCC risk (P=0.048, OR=1.192, 95% CI=1.002-1.418). Under the recessive model, a significant negative association was observed for rs875339 (P=0.010, OR=0.758, 95% CI=0.615-0.935). In a word, this large-scale replication study validated that rs12188136 and rs6854472 are associated with ESCC in a Han Chinese subgroup from Eastern China, and that rs875339 is negative associated with ESCC.

Keywords: esophagi al squamous cell carcinoma (ESCC), genome-wide association study (GWAS), single nucleotide polymorphism (SNP), MassARRAY system, Han Chinese population