Distributions of MTHFR Gene Polymorphism according to the Location of Colon Cancer.
- Author:
Jong Woo KIM
1
;
Doyeun OH
;
So Young CHONG
;
Dong Jin YIM
;
Jin Kyeoung KIM
;
Nam Keun KIM
Author Information
1. Department of Surgery, College of Medicine, Pochon CHA University, Seongnam, Korea.
- Publication Type:Original Article
- Keywords:
MTHFR gene polymorphism;
Colon cancer;
Location
- MeSH:
Carcinogenesis;
Colon*;
Colon, Transverse;
Colonic Neoplasms*;
Genotype;
Humans;
Incidence;
Methylenetetrahydrofolate Reductase (NADPH2)
- From:Journal of the Korean Society of Coloproctology
2006;22(2):69-74
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
PURPOSE: Colon carcinogenesis seems to vary according to the original location of tumor, especially theright and the left sides. Two common methylenetetrahydrofolate reductase (MTHFR) polymorphisms, 677C->T and 1298A->C, are now known. Especially, the TT type of the 677C->T mutation shows reduced catalytic activity at a rate 30% that of wild type. The aim of this study is to investigate the distributions of MTHFR polymorphisms of 677C->T and 1298A->C according to the location of the colon cancer. METHODS: Blood samples were collected from 112 patients diagnosed in our hospital, as having colon cancer: 34 proximal and 78 distal cases to the splenic flexure and 448 healthy control subjects. In order to characterize MTHFR polymorphisms, we applied the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). RESULTS: The distributions of MTHFR 677C->T polymorphisms as genotypes CC, CT, and TT were 32.4%, 53.1%, and 14.5% in the control group, and 34.8%, 58.0%, and 7.1% in the cancer group (P=0.056). In the 34 proximal cancers, the CC, CT, and TT distributions were 44.1%, 55.9%, and 0% (P<0.05), respectively. In the distal group, they were 30.8%, 59.0%, and 10.3%. The distributions of the MTHFR 1298 A->C polymorphism by genotypes, AA, AC, CC were 69.6%, 28.6%, and 1.8% in the control group, and 58.9%, 38.4%, and 2.7% in the cancer group. The proximal and the distal groups show genotype distributions of 44.1%, 53.0%, and 2.9% and 65.4%, 32.0%, and 2.6%, respectively, but the differences were not statistically significant. CONCLUSIONS: There are no definite differences between control subjects and colon-cancer patients in the two polymorphisms 677C->T and 1298A->C. However, the TT genotype shows a lower frequency in the cancer group than in the control group with a marginal statistical value (P=0.056), which suggest a reduced risk of cancer incidence for this type, compared with a CC or a CT type.