| 학회지 검색 | HOME > 논문 및 학회지 > 학회지 검색 |
대한생식의학회지 제29권 제3호 2010년
5,10-Methylenetetrahydrofolate Reductase (MTHFR C677T와 A1298C) 유전자 돌연변이의 반복자연유산 관련성 연구
포천중문 의과대학교 임상의학연구소,분당 차병원 산부인과,예방의학교실,차병원 여성의학연구소
김남근, 남윤성,이수만,김선희,신승주,장성운,김세현,차광렬,오도연
Polymorphisms of 5,10-Methylenetetrahydrofolate Reductase (MTHFR C677T and A1298C) Gene in Recurrent Spontaneous Abortion
Kim NK
Institute for Clinical Research,Obstetrics and Gynecology,Department of Preventive Poc
Objective: Previous studies have suggested that hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR C677T) mutations are associated with increased risk of recurrent spontaneous abortion (RSA). Recently, a second site polymorphism in MTHFR, 1298A-->C, which changes a glutamic acid into an alanine residue, was shown to be associated with a decreased enzyme activity. We tested whether the variant alleles of MTHFR C677T and A1298C are risk factor (biomarker) for RSA. Materials and Methods: We analyzed DNA from a case-control study in the Korean DNA was extracted from blood samples of 118 patients with RSA and 123 healthy fertile patients as the controls. MTHFR variant alleles were determined by a PCR-restriction fragment length polymorphism assay. Results: We found no evidence for an association between 677TT genotype and risk of RSA (OR=1.95, 95% CI=0.84~4.50, p=0.12). However, the MTHFR 1298AC (OR=0.36, 95% CI=0.20~ 0.63, p=0.0004) and 1298AC+CC (OR=0.35, 95% CI=0.20~0.61, p=0.0002) genotypes were lower among 118 RSA cases compared with 123 controls, conferring a 2.8-fold decrease in risk of RSA, respectively. Moreover, the combined genotypes of MTHFR 677CC/1298AC (OR=0.30, 95% CI= 0.10~0.88, p=0.029) and 677CT/1298AC (OR=0.77, 95% CI=0.60~0.99, p=0.043) also showed significantly lower risk than those with MTHFR 677CC/1298AA type. Conclusion: MTHFR 1298AC, MTHFR 677CC/1298AC and 677CT/1298AC genotypes may represent genetic markers for the protection of RSA at least in Korean women.
키워드 : MTHFR, Polymorphism, Recurrent spontaneous abortion, Korean, Vascular disease, Thrombotic disease Th
교신저자 : nkkim@cha.ac.kr
전문 파일 : 
