天津地区人群hMLH1和hMSH2基因多态性与散发性结直肠癌易感性的关系

doi:10.3724/SP.J.1005.2010.01241

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HEREDITAS ›› 2010, Vol. 32 ›› Issue (12): 1241-1246.doi: 10.3724/SP.J.1005.2010.01241

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Association of mismatch repair gene polymorphism with susceptibility to sporadic colorectal cancer in Tianjin region

LI Hui-Chen¹, FENG Hui-Yuan², ZHANG Xi-Peng¹, LIU Rui³, MA Dong-Wang¹, QIN Hai¹, ZHOU Yi¹, YU Lin¹

1. Department of Anus & Intestine Surgery, Tianjin People’s Hospital, Tianjin 300121, China;
2. Tianjin Medical College, Tianjin 300222, China;
3. Department of Clinical Laboratory, Tianjin People’s Hospital, Tianjin 300121, China

Received:2010-02-09 Revised:2010-04-26 Online:2010-12-20 Published:2010-12-20
Contact: LI Hui-Chen E-mail:lihuichen_tianjin@yahoo.com.cn

Abstract

Abstract: To investigate the possible association of mismatch repair gene single nucleotide polymorphisms (SNPs) with susceptibility to sporadic colorectal cancer (SCRC), the genotypes of hMLH1 394G/C, hMSH2 943-1G/A, hMSH2 1917T/G, and hMSH2 2783C/A were detected by PCR-denaturing high-performance liquid chromatography (DHPLC) in 600 SCRC patients and 600 healthy controls. The genotype distribution of hMSH2 2783C/A in SCRC patients (90%, 9%, and 1%) was significantly different from that in the controls (95%, 4.8%, and 0.23%; χ²=11.91, P<0.01). Compared to hMSH2 2783C/C, genotypes C/A and A/A significantly increased the risk of developing SCRC (OR were 1.77 and 11.94, and the reanges of 95% CI were 1.03-3.03 and 1.38-103.2). When combined analysis of three SNPs was performed, the haplotype distribution in SCRC patients was significantly different from that in controls (χ²=38.38, P<0.01). In reference to 394G/943-1G /2783C haplotype, 394G/943-1G /2783A haplotype contributed significantly to SCRC (OR=2.18, 95% CI: 1.40-3.40). These results indicate that hMSH2 2783C/A polymorphism has potential to be a susceptibility factor for SCRC and the 394G/943-1G /2783A haplotype might increase the risk of developing SCRC.

Key words: hMLH1, hMSH2, single nucleotide polymorphisms, sporadic colorectal cancer, susceptibility, haplotype

LI Hui-Chen, FENG Hui-Yuan, ZHANG Ti-Peng, LIU Juan, MA Dong-Wang, QIN Hai, ZHOU Yi, SHU Lin. Association of mismatch repair gene polymorphism with susceptibility to sporadic colorectal cancer in Tianjin region[J]. HEREDITAS, 2010, 32(12): 1241-1246.

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Association of mismatch repair gene polymorphism with susceptibility to sporadic colorectal cancer in Tianjin region

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