Clinical and Experimental Reproductive Medicine

The Korean Society for Reproductive Medicine (대한생식의학회)
권호 표지

The Study of 5,10-Methylenetetrahydrofolate Reductase Variation (MTHFR C677T) in Infertile Females with Polycystic Ovarian Syndrome (PCOS) in Korea

한국인 다낭성 난포증후군 환자에서 5,10-Methylenetetrahydrofolate Reductase의 677번 유전자 다형성에 관한 연구

  • Lee, Kyo-Won (Kangbuk Samsung Hospital, SungKyunKwan University School of Medicine) ;
  • Jeong, Yu-Mi (Genome Research Center for Reproductive Medicine and Infertility, CHA General Hospital, College of Medicine, Pochon CHA University) ;
  • Lee, Sook-Hwan (Genome Research Center for Reproductive Medicine and Infertility, CHA General Hospital, College of Medicine, Pochon CHA University) ;
  • Yoon, Tae-Ki (Genome Research Center for Reproductive Medicine and Infertility, CHA General Hospital, College of Medicine, Pochon CHA University) ;
  • Kwak, In-Pyung (Genome Research Center for Reproductive Medicine and Infertility, CHA General Hospital, College of Medicine, Pochon CHA University) ;
  • Yoon, Seon-Woong (Kangbuk Samsung Hospital, SungKyunKwan University School of Medicine) ;
  • Choi, Joong-Sub (Kangbuk Samsung Hospital, SungKyunKwan University School of Medicine) ;
  • Kim, Kye-Hyun (Kangbuk Samsung Hospital, SungKyunKwan University School of Medicine) ;
  • Han, Jong-Sul (Kangbuk Samsung Hospital, SungKyunKwan University School of Medicine) ;
  • Kim, Sung-Do (Kangbuk Samsung Hospital, SungKyunKwan University School of Medicine) ;
  • Kim, Nam-Keun (CHA General Hospital, College of Medicine, Pochon CHA University) ;
  • Cha, Kwang-Yul (CHA General Hospital, College of Medicine, Pochon CHA University) ;
  • Baek, Kwang-Hyun (Genome Research Center for Reproductive Medicine and Infertility, CHA General Hospital, College of Medicine, Pochon CHA University) ;
  • Lee, Su-Man (Genome Research Center for Reproductive Medicine and Infertility, CHA General Hospital, College of Medicine, Pochon CHA University)
  • 이교원 (성균관대학교 의과대학 강북삼성병원) ;
  • 정유미 (차병원 생식의학 및 불임유전체 연구센타) ;
  • 이숙환 (차병원 생식의학 및 불임유전체 연구센타) ;
  • 윤태기 (차병원 생식의학 및 불임유전체 연구센타) ;
  • 곽인평 (차병원 생식의학 및 불임유전체 연구센타) ;
  • 윤선웅 (성균관대학교 의과대학 강북삼성병원) ;
  • 최중섭 (성균관대학교 의과대학 강북삼성병원) ;
  • 김계현 (성균관대학교 의과대학 강북삼성병원) ;
  • 한종설 (성균관대학교 의과대학 강북삼성병원) ;
  • 김성도 (성균관대학교 의과대학 강북삼성병원) ;
  • 김남근 (차병원) ;
  • 차광렬 (차병원) ;
  • 백광현 (차병원 생식의학 및 불임유전체 연구센타) ;
  • 이수만 (차병원 생식의학 및 불임유전체 연구센타)
  • Published : 2003.09.30
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Abstract

Objective: To investigate the association of genetic background between MTHFR C677T genotype and infertile females with polycystic ovarian syndrome. Materials and Methods: We compared 86 infertile females with polycystic ovarian syndrome (PCOS) with 100 healthy fertile females with one or more offspring. Pyrosequencing analysis for MTHFR C677T variation was performed on polymerase chain reaction (PCR) product of study group. To validate pyrosequencing data of C677T variation for randomly selected 50 samples, we compared the pyrosequencing result with the PCR-RFLP (Restriction Fragment Length Polymorphism) result of MTHFR C677T genotype. Results: The prevalence of the C677T mutant homozygous (TT) was significantly lower (p=0.0085) in females with PCOS (8.14%) than in fertile females (21.00%). MTHFR 677 TT genotype had a decreased risk (3.7-fold) of PCOS compared with wild type (MTHFR 677 CC). Conclusion: Our data support a role for MTHFR mutant homozygous (677 TT) genotype in reducing risk in Korean infertile females with Polycystic ovarian syndrome.

Keywords

References

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