Association of MLH1 gene 415G/C polymorphism with colorectal cancer in Chinese.
- Author:
Wei-ping TAO
1
;
Sheng HU
;
Jue-ping FENG
;
Yi-shan XIE
Author Information
- Publication Type:Journal Article
- MeSH: Adaptor Proteins, Signal Transducing; genetics; Adult; Aged; Asian Continental Ancestry Group; genetics; Base Sequence; Colorectal Neoplasms; genetics; DNA Mutational Analysis; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Male; Middle Aged; MutL Protein Homolog 1; Nuclear Proteins; genetics; Polymorphism, Single Nucleotide; Reverse Transcriptase Polymerase Chain Reaction
- From: Chinese Journal of Medical Genetics 2009;26(3):314-317
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the possible etiological role of MLH1 gene 415G/C polymorphism in sporadic Chinese colorectal cancer (CRC) patients.
METHODSNinety-seven sporadic CRC patients and 138 normal controls were collected from Hubei Provincial Cancer Hospital and the People's Hospital of Wuhan University. In addition, five CRC families including 6 patients and their 19 first-degree relatives were also recruited. Genomic DNA was extracted from peripheral blood samples. Gene mutation was analyzed by PCR-RFLP. MLH1 mRNA expression in colorectal mucosa was analyzed by RT-PCR.
RESULTSThe frequency of MLH1 gene CC genotype was significantly higher in sporadic CRC patients than that in controls (P=0.035, OR=5.29, 95% CI: 1.07-26.04). In the CRC families, the C allele frequency of CRC patients and their relatives was increased, compared with sporadic CRC patients and normal controls, respectively (P=0.003 and P=0.006). MLH1 mRNA expression of colorectal mucosa was similar in different genotypes.
CONCLUSIONMLH1 gene 415G/C polymorphism might be a risk factor to sporadic CRC in Chinese. The mutation does not affect the MLH1 mRNA expression. For first-degree relatives from CRC families, carriers of MLH1 415C allele have a high risk to CRC.
