Clinical and Experimental Reproductive Medicine

The Korean Society for Reproductive Medicine (대한생식의학회)
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Association of the COMT Gene Polymorphism with the Risk of PCOS in Korean Women

한국인 여성에서 다낭성난소증후군의 발생 위험도와 Catechol-O-Methyltransferase 유전자 다형성과의 관련성에 관한 연구

  • Lee, Ji Young (Department of Obstetrics and Gynecology, College of Medicine, Konkuk University) ;
  • Cha, Yun Jeong (Department of Obstetrics and Gynecology, College of Medicine, Konkuk University) ;
  • Hur, Seung Eun (Department of Obstetrics and Gynecology, College of Medicine, Konyang University) ;
  • Kwon, Han Sung (Department of Obstetrics and Gynecology, College of Medicine, Konkuk University) ;
  • Lee, Sun-Joo (Department of Obstetrics and Gynecology, College of Medicine, Konkuk University) ;
  • Sohn, In Sook (Department of Obstetrics and Gynecology, College of Medicine, Konkuk University) ;
  • Kim, Soo Nyung (Department of Obstetrics and Gynecology, College of Medicine, Konkuk University) ;
  • Seung, Yon A (Department of Internal Medicine, College of Medicine, Ewha Womans University) ;
  • Chung, Hye Won (Department of Obstetrics and Gynecology, College of Medicine, Ewha Womans University)
  • 이지영 (건국대학교 의과대학 산부인과학교실) ;
  • 차윤정 (건국대학교 의과대학 산부인과학교실) ;
  • 허성은 (건양대학교 의과대학 산부인과학교실) ;
  • 권한성 (건국대학교 의과대학 산부인과학교실) ;
  • 이선주 (건국대학교 의과대학 산부인과학교실) ;
  • 손인숙 (건국대학교 의과대학 산부인과학교실) ;
  • 김수녕 (건국대학교 의과대학 산부인과학교실) ;
  • 성연아 (이화여자대학교 의과대학 내과학교실) ;
  • 정혜원 (이화여자대학교 의과대학 산부인과학교실)
  • Published : 2006.06.30
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Abstract

Objective: To investigate whether polymorphism of Catechol-O-methyltransferase(COMT) gene is associated with the risk of polycystic ovary syndrome (PCOS) in Korean women. Methods: One hundred and thirty-six PCOS patients and eighty four controls were enrolled. Blood samples were collected from the patients diagnosed according to the 2003 revised criteria of the Rotterdam ESHRE/ASRM-sponsored PCOS consensus workshop group. Age matched women with regular menstruation from same geographic region were recruited as control subject. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) of PCR products were done to determine all individuals' genotype. Results: In women with $COMT^{LL}$ genotype, there was decreased PCOS risk and this difference was statistically significant (OR 0.24, 95% CI 0.11~0.51). Conclusion: The results suggest that the $COMT^{LL}$ genetic polymorphism might be associated with PCOS risk in Korean women.

연구목적 : 한국인 여성에서 에스트로겐의 대사 및 불활성화와 관련된 COMT 유전자 다형성과 다낭성 난소증후군의 발생 위험도의 관련성을 알아보고자 하였다. 연구방법 : 연구대상자는 2003년 ESHRE의 진단기준을 만족하는 다낭성 난소증후군 여성 136명과 연령이 비슷하며 규칙적인 생리를 하는 여성 84명의 대조군을 대상으로 하였다. 연구대상자들의 genomic DNA는 혈액에서 추출하였으며, PCR 및 RFLP를 이용하여 유전자 다형성을 조사하였다. 결과 : COMT를 코딩하는 유전자의 exon4에서 $G{\rightarrow}A$로의 다형성을 조사한 결과 오히려 저활성 유전자형인 $COMT^{LL}$ 군에서 통계적으로 유의하게 다낭성 난소증후군의 발생 위험도가 낮아지는 것으로 나타났다(OR 0.241(CI 0.114~0.508)). 결론 : 이상의 결과로 볼 때 저활성 유전자형인 $COMT^{LL}$ 다형성 군에서 한국인 다낭성 난소증후군 발생이 감소하였으며, 에스트로겐 의존형 질환이 증가함에도 혈중 에스트라디올의 농도가 높지 않은 것은 다낭성 난소증후군 환자에서 $COMT^{HH}$ 다형성군이 증가되어 있는 것과 관련된 것으로 사료된다.

Keywords

Acknowledgement

Supported by : 건국대학교

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