Clinical and Experimental Reproductive Medicine

  • 제33권2호
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  • Pages.85-95
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  • 2006
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  • 2233-8233(pISSN)
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  • 2233-8241(eISSN)
대한생식의학회 (The Korean Society for Reproductive Medicine)
권호 표지

한국 여성에서 중증자궁내막증과 CYP1B1 유전자 다형성과의 관련성에 관한 연구

Association of the CYP1B1 Gene Polymorphism with the Risk of Advanced Endometriosis in Korean Women

  • 조연진 (성균관대학교 의과대학 제일병원 산부인과교실) ;
  • 허성은 (건양대학교 의과대학 산부인과교실) ;
  • 이지영 (건국대학교 의과대학 산부인과교실) ;
  • 송인옥 (성균관대학교 의과대학 제일병원 산부인과교실) ;
  • 궁미경 (성균관대학교 의과대학 제일병원 산부인과교실) ;
  • 문혜성 (이화여자대학교 의과대학 산부인과교실) ;
  • 정혜원 (이화여자대학교 의과대학 산부인과교실)
  • Cho, Yeon Jean (Department of Obstetrics and Gynecology, Samsung Cheil Hospital and Women's Healthcare Center, Sungkyunkwan University School of Medicine) ;
  • Hur, Sung-Eun (Department of Obstetrics and Gynecology, College of Medicine, Konyang University) ;
  • Lee, Ji Young (Department of Obstetrics and Gynecology, College of Medicine, Konkuk University) ;
  • Song, In Ok (Department of Obstetrics and Gynecology, Samsung Cheil Hospital and Women's Healthcare Center, Sungkyunkwan University School of Medicine) ;
  • Koong, Mi Kyoung (Department of Obstetrics and Gynecology, Samsung Cheil Hospital and Women's Healthcare Center, Sungkyunkwan University School of Medicine) ;
  • Moon, Hye Sung (Department of Obstetrics and Gynecology, College of Medicine, Ewha Womans University) ;
  • Chung, Hye-Won (Department of Obstetrics and Gynecology, College of Medicine, Ewha Womans University)
  • 발행 : 2006.06.30
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초록

목 적: CYP1B1은 자궁내막증의 발생과 관련된 에스트로겐의 대사 및 dioxin의 대사 모두와 관련이 있는 유전자로 생각하여 자궁내막증의 발생위험과 CYP1B1의 codon 119G${\rightarrow}$T, 432G${\rightarrow}$C, 449T${\rightarrow}$C, 453A${\rightarrow}$G의 유전자 다형성과의 관계에 대해서 알아보고자 하였다. 연구방법: 병리조직학적으로 자궁내막증 III기와 IV기임을 확인한 여성 199명과 대조군으로 자궁내막증 환자군과 연령이 비슷한 여성에서 양성 난소 낭종으로 수술을 시행하여 자궁내막증이 없음을 육안으로 확인한 183명을 대상으로 PCR 및 RFLP를 시행하여 CYP1B1의 codon 119G${\rightarrow}$T, 432C${\rightarrow}$G, 449T${\rightarrow}$C, 453A${\rightarrow}$G의 다형성을 조사하였다. 결 과: CYP1B1에서 $Ala^{l19}Ser$, $Va1^{432}Leu$, $Asn^{449}(T^{449}{\rightarrow}C)$, $Asn^{453}Ser$ 각각의 유전자 다형성은 그 분포와 위험도에 있어서 자궁내막증 환자와 대조군 간에 통계적으로 유의한 차이는 없었다. CYP1B1에서 앞서 밝힌 4가지 codon의 다형성을 조합한 결과 GG/CC/CC/AA의 유전자형을 갖는 여성에 비해 GG/GC+GG/TC+TT/AA의 유전자형을 갖는 경우만이 자궁내막증의 위험도가 2.056 (95% CI: 1.003-4.216)으로 유의하게 높은 것을 알 수 있었다. 결 론: 이상으로 볼 때 한국인 여성에서 중증자궁내막증 발생은 CYP1B1의 유전적 다형성과 관련이 있는 것으로 보이며, 향후 자궁내막증의 발생 기전을 밝히는데 주요한 자료가 될 것으로 본다.

Objective: To investigate whether polymorphisms of gene encoding CYP1B1 is associated with the risk of endometriosis in Korean women. Methods: We investigated 199 patients with histopathologically confirmed endometriosis rAFS stage III/IV and 183 control group women who were surgically proven to have no endometriosis. The genetic distribution of four different CYP1B1 polymorphisms at $G^{119}-T$, $G^{432}-C$, $T^{449}-C$, and $A^{453}-G$ were analyzed by polymerase chain reaction(PCR) and restriction fragment length polymorphism of PCR products. Results: We found no overall association between each individual CYP1B1 genotype and the risk of endometriosis. The odds ratio of genotype GG/GC+GG/TC+TT/AA compared to GG/CC/CC/AA(reference) was calculated as 2.06 with a 95% confidence interval of 1.003~4.216. Conclusion: This results suggest that CYP1B1 genetic polymorphism may be associated with development of endometriosis in Korean women.

키워드

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