Genetic variations of CARMN affect risk of esophageal cancer in northwest China

Ai Jia; Yue Wu; Wanli Ren; Peng Han; Yuan Shao

doi:10.1016/j.gene.2020.144680

Genetic variations of CARMN affect risk of esophageal cancer in northwest China

Gene. 2020 Jul 20:748:144680. doi: 10.1016/j.gene.2020.144680. Epub 2020 Apr 17.

Authors

Ai Jia¹, Yue Wu², Wanli Ren³, Peng Han⁴, Yuan Shao⁵

Affiliations

¹ Department of Digestive System, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi 710061, China.
² Department of Operation, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi 710061, China.
³ Department of Otolaryngology & Head Neck, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi 710061, China.
⁴ Department of Otolaryngology & Head Neck, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi 710061, China. Electronic address: penghanent@hotmail.com.
⁵ Department of Otolaryngology & Head Neck, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi 710061, China. Electronic address: syxjdfsyy@163.com.

PMID: 32305636
DOI: 10.1016/j.gene.2020.144680

Abstract

Background: As one of the common malignant tumors, esophageal cancer has significant heterogeneity in morbidity and mortality between gender, geographic distribution, race and histology. We used single nucleotide polymorphism (SNP) to identify disease-related alleles, and to explore the relationship between gene variations and esophageal cancer susceptibility in northwest China.

Methods: Six candidate SNPs (rs13177623, rs12654195, rs11168100, rs353303, rs353300, rs353299) selected from cancer related gene Cardiac mesoderm enhancer-associated non-coding RNA (CARMN) were genotyped by Agena MassARRAY platform. SPSS 18.0 software was used for logistic regression analysis of genotyping results, and Haploview 4.2 software was utilized for linage disequilibrium (LD) analysis.

Results: We observed a significant association between genotype TT of rs353299 and the decreasing esophageal cancer risk (OR = 0.42, 95% CI = 0.18-0.97, p = 0.042). The stratified analysis revealed that the influence of three CARMN polymorphisms (rs11168100, rs353300 and rs353299) on esophageal cancer risk is age-, gender-, smoking-, drinking- and lymph node metastasis status- dependent (p < 0.05). Haplotype analysis results indicated that T_rs11168100A_rs353303T_rs353300C_rs353299 acts as a protective factor of esophageal cancer with OR of 0.71 (95% CI = 0.52-0.98, p = 0.038), while A_rs11168100G_rs353303C_rs353300 and A_rs11168100A_rs353303 have 1.49-fold (OR = 1.49, 95% CI = 1.02-2.19, p = 0.041) and 1.57-fold (OR = 1.57, 95% CI = 1.05-2.35, p = 0.027) increased risk of esophageal cancer, respectively.

Conclusion: The results of our study suggested that CARMN variations may affect the risk of esophageal cancer.

Keywords: CARMN; Case-control study; Esophageal cancer; Single nucleotide polymorphism (SNP).

MeSH terms

Aged
China / epidemiology
Esophageal Neoplasms / genetics*
Female
Genetic Predisposition to Disease*
Haplotypes
Humans
Male
Middle Aged
Polymorphism, Single Nucleotide*
RNA, Long Noncoding / genetics*

Substances

RNA, Long Noncoding