title: Single-nucleotide polymorphisms of mismatch repair genes in healthy Chinese individuals and sporadic colorectal cancer patients.
abstract: Mismatch repair (MMR) genes are among of the most important genes associated with colorectal cancer (CRC). Single-nucleotide polymorphisms (SNPs) are generally thought to provide important information across a wide spectrum of life sciences; however, no study of association between SNPs of MMR genes and Chinese sporadic colorectal cancer (SCRC) is available. We chose 29 reported single-nucleotide variants that have rarely been verified in a population-based study. We identified SNPs and the genotype-phenotype association in Chinese populations of 150 healthy individuals and 160 SCRC patients. We extracted the genomic DNA from the blood of these individuals and used sequencing to determine these SNPs. Three SNPs (MLH1 394G-->C, 655A-->G, 1151T-->A) occurred with a frequency of 8.8-11.2% in the Chinese population. These SNPs formed a series with combined effects. The haplotype of concurrent MLH1 655 and 1151 SNPs and the haplotype combinations of MLH1 1151, MLH1 394 occurred exclusively in SCRC. None of the other 26 variants were detected in the Chinese population.
authors.affiliation: Department of Medical Genetics, The Second Military Medical University, Xiangyin Road 800, Shanghai, China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Mei
authors.forename: Hong-Li
authors.initials: HL
authors.lastname: Yan
authors.forename: Fei-Xiang
authors.initials: FX
authors.lastname: Ding
authors.forename: Geng
authors.initials: G
authors.lastname: Xue
authors.forename: Jing-Jing
authors.initials: JJ
authors.lastname: Huang
authors.forename: Yu-Zhao
authors.initials: YZ
authors.lastname: Wang
authors.forename: Shu-Han
authors.initials: SH
authors.lastname: Sun
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000368:Aged; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D002681:China; D015179:Colorectal Neoplasms / Q000235:genetics / Q000473:pathology*; D004252:DNA Mutational Analysis; D004260:DNA Repair / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D000070957:MutL Protein Homolog 1; D009687:Nuclear Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; C501486:MLH1 protein, human; D009687:Nuclear Proteins; D000070957:MutL Protein Homolog 1