Case Control Study
Copyright ©The Author(s) 2017. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Jul 28, 2017; 23(28): 5179-5186
Published online Jul 28, 2017. doi: 10.3748/wjg.v23.i28.5179
Association between CYP24A1 polymorphisms and the risk of colonic polyps and colon cancer in a Chinese population
Xue-Qi Chen, Jia-Yu Mao, Wen-Bin Li, Jian Li, Hong Yang, Jia-Ming Qian, Jing-Nan Li
Xue-Qi Chen, Jia-Yu Mao, Wen-Bin Li, Hong Yang, Jia-Ming Qian, Jing-Nan Li, Department of Gastroenterology, Peking Union Medical College Hospital, Beijing 100730, China
Jian Li, Department of General Surgery, Henan Cancer Hospital, Zhengzhou 450008, Henan Province, China
Author contributions: Chen XQ performed the majority of experiments and wrote the manuscript; Mao JY, Li WB and Li J participated in collection of the human material and clinical data; Yang H and Qian JM served as scientific advisors; Li JN designed the study, performed quality control of the data and algorithms, and reviewed and approved the final version of the manuscript.
Supported by the Special Fund for Health Research and Development, Beijing Municipal Government, China, No. 2011-4001-01.
Institutional review board statement: All procedures performed in the studies involving human participants were carried out in accordance with the ethical standards of the institutional research committee of Peking Union Medical College Hospital, and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.
Informed consent statement: Informed consent was obtained from all participants included in the study.
Conflict-of-interest statement: No benefits in any form have been received or will be received from a commercial party related directly or indirectly to the subject of this article.
Data sharing statement: Technical appendix, statistical code, and dataset available from the corresponding author at lijn@pumch.cn.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Jing-Nan Li, MD, Department of Gastroenterology, Peking Union Medical College Hospital, No. 1, Shuaifuyuan, Dongcheng District, Beijing 100730, China. lijn@pumch.cn
Telephone: +86-10-69155913 Fax: +86-10-69155913
Received: March 19, 2017
Peer-review started: March 22, 2017
First decision: April 20, 2017
Revised: May 15, 2017
Accepted: June 19, 2017
Article in press: June 19, 2017
Published online: July 28, 2017
Abstract
AIM

To determine the pathogenesis and potential single nucleotide polymorphisms (SNPs) as screening sites for colonic polyps, colon cancer and ulcerative colitis, and to analyze the possible association between these genetic polymorphisms and the three diseases.

METHODS

We evaluated genetic polymorphisms in 144 newly diagnosed colonic polyp patients, 96 colon cancer patients and 44 ulcerative colitis patients. The four SNPs genotyped were rs4809957, rs6068816, rs6091822 and rs8124792. The control group consisted of 504 East Asians enrolled in the 1000 Genomes Project. Correlations between CYP24A1 SNPs and the diseases were analyzed by Fisher’s exact probability test.

RESULTS

CYP24A1 polymorphisms rs4809957 A/G and rs6068816 C/T showed a statistically significant association with risk of the three diseases, when both the genotypes and allele frequencies were considered. With regard to rs6091822 G/T, all three diseases were related to risk allele carriers (GT + TT) vs wild-type (GG), but the associations between the allele frequencies and the diseases were not significant. The risk of colonic polyps and colon cancer was related to the allele frequencies of rs8124792 G/A, and this association remained for genotype frequencies of this SNP.

CONCLUSION

Four SNPs are related to the risk of colonic polyps and colon cancer. G allele in rs6091822 G/T may play an anti-cancer role only if it is homozygous. The A allele, which is a minor component of rs8124792, may be indicated in the diagnosis of colonic polyps or colon cancer rather than ulcerative colitis.

Keywords: CYP24A1, Single nucleotide polymorphisms, Colonic polyps, Colon cancer

Core tip: To determine the pathogenesis and potential single nucleotide polymorphisms (SNPs) as screening sites for colonic polyps and colon cancer, we examined four SNPs located in CYP24A1 in patients with colonic polyps, colon cancer, ulcerative colitis and controls, and found a statistically significant association with risk of the three diseases. Our research represents the first investigation on CYP24A1 gene polymorphisms in colonic polyp patients. These findings predicted a potential role of CYP24A1 polymorphisms as biomarkers for population-level screening of colon cancer.