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대한생식의학회지 제31권 제3호 2010년
한국인의 반복자연유산 환자에서 Thymidylate Synthase Enhancer Region (TSER) 돌연변이형의 혈중 호모시스테인 양과의 관련성
포천중문 의과대학교 분당 차병원 진단검사의학과1, 임상의학연구소2, 차병원 산부인과 및 여성의학연구소3
최윤경1, 강명서1,김남근2,김선희2,최동희3,안명옥3,이수만3
Contribution of Thymidylate Synthase Enhancer Region (TSER) Polymorphism to Total Plasma Homocysteine Levels in Korean Patients with Recurrent Spontaneous Abortion
Yoon Kyung Choi1, Myung Seo Kang1, Nam Keun Kim2, Sun Hee Kim2, Dong Hee Choi3, Myung Ok An3, Suman Lee3
1Department of Diagnostics, 2Institute for Clinical Research, Department of Obstetrics & Gynecology and 3Infertility Medical Center, Bundang CHA General Hospital, College of Medicine, Pochon CHA University, Seongnam 463-712, South Korea
Objectives: Methylenetetrahydrofolate reductase (MTHFR) mutation are commonly associated with hyperhomocysteinemia, and through their defects in homocysteine metabolism, they have been implicated as a risk factor for recurrent spontaneous abortion. Recent report describe that 28-bp tandem repeat polymorphism in thymidylate synthase enhancer region (TSER) that influence enzyme activity would affect plasma homocysteine level. We have investigated the relationship between TSER genotype and plasma homocysteine level in 54 patients with recurrent spontaneous abortion. Methods: Plasma homocysteine level was measured by fluorescent polarizing immunoassay. MTHFR mutation (C677T and A1298C) was identified by PCR-restriction fragment length polymorphism assay and TSER mutation was analyzed by PCR method. The data were analyzed using the program SAS 8.2 for Windows. Results: Total homocysteine level was significantly higher in MTHFR 677TT genotype (9.80±3.87 μmol/L) than MTHFR 677CC genotype (8.14±1.74 μmol/L) in Korean patients with unexplained recurrent spontaneous abortion (p=0.0143). However, the plasma homocysteine level was not significantly different in the MTHFR 1298AA (8.42±2.65 μmol/L) and 1298CC (6.09±0.32 μmol/L; p=0.2058) and, TSER 2R2R (8.61±1.68 μmol/L) and 3R3R (8.05±2.81 μmol/L; p=0.9319) mutant genotypes, respectively. In this study, we found the combination effects of TSER and MTHFR C677T genotypes. Plasma homocysteine levels were the highest (11.47±4.66 μmol/L) in individuals with TSER 3R3R (8.05±2.81 μmol/L) and MTHFR 677TT (9.80±3.87 μmol/L) genotypes. Individuals with a combination of both TSER 2R2R/2R3R and MTHFR 677CC/CT genotypes (7.69±1.77 μmol/L) had lower plasma homocysteine levels than TSER 2R2R (8.61±1.68 μmol/L) and MTHR 677CC (8.14±1.74 μmol/L) genotypes, respectively. The effect of MTHFR polymorphism in the homocysteine metabolism appears to be stronger than that of TSER polymorphism. Conclusion: Although statistically not significant, we found the elevated level of plasma homocysteine in combined genotypes with TSER and MTHFR (C677T and A1298C) in Korean patients with unexplained habitual abortion. In this study, we reported the possibility that TSER polymorphism is a genetic determinant of plasma homocysteine levels in the Korean patients as well as MTHFR C677T polymorphism. A large prospective study is needed to verify our findings.
키워드 : MTHFR, TSER, Homocysteine, Habitual abortion
교신저자 : nkkim@cha.ac.kr, namkkim@hanmail.net
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