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대한생식의학회지 제31권 제4호 2010년

한국인 다낭성 난소증후군 환자에서 CYP11α 유전자 (tttta)_n 다형성 양상 및 역할

서울대학교 의과대학 산부인과학교실¹,의학연구원 인구의학연구소²,성균관대학교 의과대학 산부인과학교실³

김진주¹, 최영민^1,2,윤상호¹,정선하¹,최두석³,구승엽^1,2,지병철¹,서창석^1,2,김석현^1,2,김정구¹,문신용^1,2

CYP11α (tttta)_n Microsatellite Polymorphism in Korean Patients with Polycystic Ovary Syndrome

Jin Ju Kim¹, Young Min Choi^1,2, Sang Ho Yoon¹, Seon Ha Choung¹, Doo Seok Choi³,Seung Yup Ku^1,2, Byung Chul Jee¹, Chang Suk Suh^1,2, Seok Hyun Kim^1,2,Jung Gu Kim¹, Shin Yong Moon^1,2

¹Department of Obstetrics and Gynecology, ²Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea ³Sungkyunkwan University School of Medicine, Seoul, Korea

Objectives: To investigate the distribution and functional significance of CYP11α (tttta)_n microsatellite polymorphism in Korean patients with polycystic ovary syndrome Materials and Methods: Analysis of CYP11α (tttta)_n microsatellite polymorphism was carried out on DNA samples from 97 patients with polycystic ovary syndrome and 70 normal controls. Comparison were done between PCOS patients and controls concerning CYP11α (tttta)_n microsatellite polymorphism genotype or allele frequencies. Results: The most frequent allele observed in the controls was an allele with six repeats (60.7%). Significant difference in the frequency of genotype (4R (-) genotype) having no copy of four-repeat- allele were observed between PCOS patients and controls (66.0% vs 34.0%, p=0.038, OR=1.939). But no significant difference was observed in the serum levels of total testosterone or free testosterone between 4R (+) genotype and 4R (-) genotype among PCOS patients. However, hyperandrogenic PCOS patients with 4R (+) genotype showed a higher serum testosterone levels compared to controls (mean ± S.D: 0.49±0.21 ng/ml vs 0.37±0.18 ng/ml, p=0.037). Conclusion: The alleleic distribution of CYP11α (tttta)_n microsatellite polymorphism in Korean subjects were different from those reported in Caucasians. CYP11α (tttta)_n microsatellite polymorphism was associated with polycystic ovary syndrome in the Korean population, and may play a role in the synthesis of androgens in patients with polycystic ovary syndrome.

키워드 : CYP11α gene, Hirsutism, Hyperandrogenism, Polycystic ovary syndrome, Microsatellite polymorphism, P450scc *이 논문은 서울대학교병원 일반연구비 (04-2004-049-0) 지원에 의하여 이루어진 것임.

교신저자 : ymchoi@snu.ac.kr
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