Clinical and Experimental Reproductive Medicine

The Korean Society for Reproductive Medicine (대한생식의학회)
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The Associtation between Methylenetetrahydrofolate Reductase Gene Polymorphisms and a Risk of Spontaneously Aborted Embryos

Methylenetetrahydrofolate Reductase(MTHFR) 유전자다형과 자연 유산아 발생의 관련성에 관한 연구

  • Jeon, Nick-Beom (Department of Gynecology & Obstetrics, College of Medicine, Pochon CHA University) ;
  • Ji, Seung Il (Institute for Clinical Research, College of Medicine, Pochon CHA University) ;
  • Shin, Seung Joo (Department of Gynecology & Obstetrics, College of Medicine, Pochon CHA University) ;
  • Cha, Sun Hee (Department of Gynecology & Obstetrics, College of Medicine, Pochon CHA University) ;
  • Choi, Dong Hee (Department of Gynecology & Obstetrics, College of Medicine, Pochon CHA University) ;
  • Yim, Dong Jin (Institute for Clinical Research, College of Medicine, Pochon CHA University) ;
  • Park, Sang Hee (Genetics Lab. of Infertility Medical Center, CHA General Hospital) ;
  • Lee, Suman (Functional Genomics Lab. of CHA Research Institute, College of Medicine, Pochon CHA University) ;
  • Lee, Sang Hwa (Functional Genomics Lab. of CHA Research Institute, College of Medicine, Pochon CHA University) ;
  • Ko, Jung Jae (Institute for Clinical Research, College of Medicine, Pochon CHA University) ;
  • Kim, Nam Keun (Institute for Clinical Research, College of Medicine, Pochon CHA University)
  • 전익범 (포천중문의과대학교 분당차병원 산부인과학교실) ;
  • 지승일 (포천중문의과대학교 분당차병원 임상의학연구소) ;
  • 신승주 (포천중문의과대학교 분당차병원 산부인과학교실) ;
  • 차선희 (포천중문의과대학교 분당차병원 산부인과학교실) ;
  • 최동희 (포천중문의과대학교 분당차병원 산부인과학교실) ;
  • 임동진 (포천중문의과대학교 분당차병원 임상의학연구소) ;
  • 박상희 (강남차병원 유전학교실) ;
  • 이수만 (포천중문의과대학교 분당차병원 차중앙연구소) ;
  • 이상화 (포천중문의과대학교 분당차병원 차중앙연구소) ;
  • 고정재 (포천중문의과대학교 분당차병원 임상의학연구소) ;
  • 김남근 (포천중문의과대학교 분당차병원 임상의학연구소)
  • Published : 2006.03.31
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Abstract

Objectives : This study was performed to understand the influence of the methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) genotypes on the spontaneously aborted embryos. Methods : DNA was extracted from tissue samples of 95 spontaneously aborted embryos and 100 samples of normal children randomly and 449 samples of normal adults were selected as the controls. MTHFR genotypes were determined by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Results : The aborted embryo group had higher frequency of MTHFR 677CC type (p=0.014) and lower 677CT type (p=0.063) than the controlled child group. The frequency of MTHFR 677CT type was drastically lower than that of controlled adult group (p=0.032). In the MTHFR C677T/A1298C combination, 677CC/1298AC genotype of the aborted embryo was significantly higher (p=0.034) than that of controlled child group, but it was not statistically significant in controlled adult group (p=0.063). Conclusion : MTHFR 677CC and MTHFR 677CC/1298AC genotypes may represent genetic markers for the risk of spontaneously aborted embryos at least in Koreans.

목 적: 본 연구는 methylenetetrahydrofolate reductase (MTHFR C677T와 A1298C) 유전자 돌연변이형이 자연유산아 발생의 원인 유전자로 작용하는지에 대해 알아보고자 시도하였다. 연구방법: 95명의 자연유산아 조직과 대조군으로 100명의 정상 소아의 혈액 그리고 449명의 정상 성인의 혈액을 채취하여 DNA를 분리하여 사용하였다. 유전자형은 분리된 DNA를 이용하여 중합효소 연쇄반응과 제한효소 절편다형 분석방법으로 결정하였다. 결 과: 자연유산아 그룹은 소아대조군에서 보다 MTHFR 677CC 형 (p=0.014)은 높게, 677CT형 (p=0.063)은 낮게 나타났다. 성인대조군과의 비교에서도 MTHFR 677CT 형의 빈도는 현저히 낮게 나타났다 (p=0.032). 그리고 MTHFR 677CC/1298AC 조합형 유전자의 경우 소아대조군 (p=0.034)과의 비교에서는 현저히 높은 빈도를 나타냈으나, 성인대조군 (p=0.063)과의 비교에서는 높은 경향성은 있었으나 통계학적으로 유의한 차이는 없었다. 결 론: MTHFR 677CC와 MTHFR 677CC/1298AC 유전자형은 자연유산아 발생의 위험인자일 가능성이 높으며, 지속적인 연구가 요구된다.

Keywords

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