title: [Association of mismatch repair gene polymorphism with susceptibility to sporadic colorectal cancer in Tianjin region].
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%; chi2 = 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 (chi2 = 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.
authors.affiliation: Department of Anus & Intestine Surgery, Tianjin People's Hospital, Tianjin 300121, China. lihuichen_tianjin@yahoo.com.cn
authors.forename: Hui-Chen
authors.initials: HC
authors.lastname: Li
authors.forename: Hui-Yuan
authors.initials: HY
authors.lastname: Feng
authors.forename: Xi-Peng
authors.initials: XP
authors.lastname: Zhang
authors.forename: Rui
authors.initials: R
authors.lastname: Liu
authors.forename: Dong-Wang
authors.initials: DW
authors.lastname: Ma
authors.forename: Hai
authors.initials: H
authors.lastname: Qin
authors.forename: Yi
authors.initials: Y
authors.lastname: Zhou
authors.forename: Lin
authors.initials: L
authors.lastname: Yu
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics* / Q000378:metabolism; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D002681:China; D015179:Colorectal Neoplasms / Q000235:genetics*; D053843:DNA Mismatch Repair / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000235:genetics* / Q000378:metabolism; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C501486:MLH1 protein, human; D009687:Nuclear Proteins; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein