Clinical and Experimental Reproductive Medicine

The Korean Society for Reproductive Medicine (대한생식의학회)
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Association of the CYP1B1 Gene Polymorphism with the Risk of Advanced Endometriosis in Korean Women

한국 여성에서 중증자궁내막증과 CYP1B1 유전자 다형성과의 관련성에 관한 연구

  • 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)
  • 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)
  • Published : 2006.06.30
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Abstract

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.

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.

Keywords

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