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Association study between CYP24A1 gene polymorphisms and cancer risk
Affiliation:1. Department of Biological Science and Technology, School of Chemistry, Chemical Engineering and Life Sciences, Wuhan University of Technology, Wuhan, China;2. Center of Reproductive Medicine, Tongji Medical College, Huazhong University of Science and Technology, China;3. Department of Reproductive Genetics, Wuhan Tongji Reproductive Medicine Hospital, Wuhan, China;4. Clinical Laboratory, Wuhan Xinzhou District People''s Hospital, Wuhan, China;1. Center for Diabetes Research, Gentofte Hospital, University of Copenhagen, Denmark;2. The NNF Center for Basic Metabolic Research and The Department of Biomedical Sciences, University of Copenhagen, Denmark;3. Department of Surgical Gastroenterology C, Rigshospitalet, University of Copenhagen, Denmark;2. National Center of Occupational Safety and Health, Beijing 102308, China;4. Wugang Institute for Occupational Health, Wugang 462500, Henan, China;1. Department of Laboratory Medicine, Children’s Hospital of Shanxi Province, Taiyuan, China;2. Department of Laboratory Medicine, Shanxi Provincial People''s Hospital, Taiyuan, China;1. Institute of Nutrition and Functional Foods (INAF), Laval University, Quebec City, QC, Canada;2. School of Nutrition, Laval University, Quebec City, QC, Canada;3. Endocrinology and Nephrology unit, Centre de recherche du CHU de Québec, Laval University, Quebec City, QC, Canada;1. Department of Clinical Laboratory, First Affiliated Hospital of Guangxi Medical University, Guangxi Zhuang Autonomous Region, Nanning 530021, China;2. Guangxi University of Chinese Medicine, Guangxi Zhuang Autonomous Region, Nanning 530021, China;3. Guangxi Medical University, Guangxi Zhuang Autonomous Region, Nanning 530021, China;4. Vasculocardiology Department, First Affiliated Hospital of Guangxi Medical University, Guangxi Zhuang Autonomous Region, Nanning 530021, China
Abstract:CYP24A1, an essential gene in regulation of vitamin D, has been reported to play an important role in enhancing immune activity and inhibiting tumorigenesis. Previous studies proposed that rs2585428, rs4809960, rs6022999 and rs6068816 in CYP24A1 gene might be greatly associated with cancer risk. To validate the findings, we here investigated the associations of these four polymorphisms and colorectal cancer (CRC) risk in a central Chinese population (426 colon cancer patients, 361 rectal cancer patients and 800 healthy controls). The genotyping was conducted by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and confirmed by sequencing. Our results revealed that the rs4809960 and rs6022999 were strongly associated with the CRC risk, especially with the colon cancer risk. Moreover, the analysis of haplotypes consisting of rs2585428(G > A), rs4809960(T > C), rs6022999(A > G) and rs6068816(C > T) indicated that haplotype ATGC significantly decreased the CRC risk, especially the colon cancer risk. Haplotype GCAT significantly increased the CRC risk, especially the rectal cancer risk. However, haplotype ACAC was only found to be associated with increased risk of CRC. To improve the statistical strength, an updated meta-analysis was further performed. The results showed that rs2585428 was associated with cancer risk in Caucasian population, rs4809960 was associated with breast cancer risk in Caucasian population, and rs6022999 was associated with cancer risk in Asian population. Collectively, the rs4809960 and rs6022999 may be the genetic biomarkers for prediction of colon cancer risk in Chinese population, the rs2585428 and rs6022999 may link to cancer susceptibility in Caucasian population and in Asian population respectly.
Keywords:Single nucleotide polymorphism (SNP)  Cancer risk  Meta-analysis
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