점액성 대장암에서의 미세부수체 불안정성(MSI)과 5,10-Methylenetetrahydrofolate Reductase (MTHFR) 유전자 다양성
Polymorphism of the 5,10-Methylenetetrahydrofolate Reductase (MTHFR) Gene and Microsatellite Instability (MSI) in Mucinous Colorectal Cancer
김해솔, 강봉수, 김종우, 안대호, 배수진, 김남근,
소속 상세정보
김해솔 ( Kim Hae-Sol )
성균관대학교 의과대학 삼성의료원 외과학교실
강봉수 ( Kang Bong-Su )
포천중문의과대학교 분당차병원 외과학교실
김종우 ( Kim Jong-Woo )
포천중문의과대학교 분당차병원 외과학교실
안대호 ( Ahn Dae-Ho )
포천중문의과대학교 분당차병원 외과학교실
배수진 ( Bae Su-Jin )
포천중문의과대학교 분당차병원 임상의학연구소
김남근 ( Kim Nam Keun )
포천중문의과대학교 분당차병원 임상의학연구소
KMID : 0356720080240050329
Abstract
Purpose: Generally, a mucinous carcinoma (Muc) of the colon show higher rates of microsatellite instability (MSI) than a non-mucinous carcinoma (non-Muc). Mutated methylenetetrahydrofolate reductase (MTHFR) brings about low enzyme activity, which may reduce genomic DNA methylation. These processes may be critical for the oncogenic transformation of human cells. We compared the relationship of MSI and MTHFR polymorphism in Muc to that in non-Muc.
Methods: From March 2003 to August 2007, genomic DNA was isolated from whole blood and tissue specimens of 285 colorectal cancer patients (Muc: 31 cases, non-Muc: 254 cases) and 448 normal control patients. These were subjected to MSI analysis and MTHFR genotyping by using PCR-based restriction fragment length polymorphism analyses.
Results: MSI was significantly more frequent in the Muc group (40.7%) than in the non- Muc group (14.8%). The frequencies of polymorphism of MTHFR 677C＞T were CC (31.5%), CT (57%), and TT (11.5%) in the patient group and 32.4%, 53.1%, and 14.5% in the control group. In the Muc group, the frequencies of polymorphism of MTHFR 677C＞T were CC (36%), CT (56%), TT (8%), and in the non-Muc group, they were 31.1%, 57%, and 11.9%. The frequencies of polymorphism of MTHFR 1298A＞C were AA (73%), AC (21.3%), and CC (5.7%) in the patient group and 69.6%, 28.6%, and 1.8% in the control group. In the Muc group, the frequencies of polymorphism of MTHFR 1298A＞C were AA (50%), AC (30%), and CC (20%), and in the non-Muc group, they were 76%, 20.3%, and 3.7%. The Muc group showed higher frequencies of the CC variant than the non-Muc group (P-value=0.018). No relation between MSI and MTHFR polymorphisms were seen in any comparison of the Muc and the non-Muc groups.
Conclusions: The Muc group showed higher rates of MSI than the non-Muc group, but no definite difference between the Muc and the non-Muc groups was noted in the case of polymorphism of MTHFR 677C＞T. However, the TT-type variant showed slightly lower frequencies in the Muc group than in the non-Muc group. On the contrary, the Muc group showed a higher rate of the CC variant in polymorphism of MTHFR 1298A＞C. These inconsistent results seem to be due to the small size of the Muc group, so further study is needed. J Korean Soc Coloproctol 2008;24:329-336
키워드
점액성 대장암;MTHFR 다양성;미세부수체 불안정성
Mucinous colorectal cancer;MTHFR polymorphism;MSI
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