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대한생식의학회지 제31권 제2호 2010년
불임여성에서 NAT2, GSTM1, CYP1A1 유전자 다형성과 자궁내막증의 상관관계에 관한 연구
성균관대학교 의과대학 삼성제일병원 산부인과, 생식생물학 및 불임연구실
송현정, 전진현, 최혜원, 허걸, 강인수, 궁미경, 이형송
Association between Endometriosis and Polymorphisms of N-acetyl Transferase 2 (NAT2), Glutathione S-transferase M1 (GSTM1) and Cytochrome P450 (CYP) 1A1 Genes in Korean Infertile Patients
Hyun Jeong Song, Jin Hyun Jun, Hye Won Choi, Girl Hur, Inn Soo Kang, Mi Kyoung Koong, Hyoung-Song Lee
Department of Obstetrics and Gynecology, Laboratory of Reproductive Biology and Infertility, Samsung Cheil Hospital and Women's Healthcare Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Objective: To investigate the association between endometriosis and polymorphisms of N-acetyl transferase 2 (NAT2), glutathione S-transferase M1 (GSTM1), and cytochrome P450 (CYP) 1A1 genes in Korean infertile patients. Materials and Methods: A total of 303 infertile patients who had undertaken diagnostic laparoscopy during January, 2001 through December, 2003 at Samsung Cheil Hospital enrolled in this study. The patients were grouped according to laparoscopic findings: minimal to mild endometriosis (group I: n=147), moderate to severe endometriosis (group II: n=57), normal pelvic cavity (n=99). Peripheral blood was obtained and genomic DNA was extracted. The genotypes of each genes were analyzed using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). For NAT2, RFLP was used to detect the wild type (wt) and mutant (mt) alleles, enabling classification into slow (mt/mt) or fast (wt/wt or wt/mt) acetylation genotypes. For GSTM1, PCR was used to distinguish active (+/- or +/+) from null (-/-) genotypes. For CYP1A1, MspI digestion was used to detect the wild type (A1A1), heterozygote (A1A2) or mutant (A2A2) genotypes. Result: The genotype frequencies of NAT2 slow acetylator was 12.8%, 10.9%, 12.8% in group I, group II and control, respectively. The genotype frequencies of GSTM1 null mutation was 55.3%, 41.8%, 53.2% in group I, group II and control, respectively. The genotype frequencies of CYP1A1 MspI polymorphism was 16.3%, 9.1%, 18.1% in group I, group II and control, respectively. No significant difference was observed between endometriosis and normal controls in the genotype frequencies of the NAT2, GSTM1, CYP1A1 MspI polymorphism. Conclusion: The NAT2, GSTM1, CYP1A1 gene polymorphism may not be associated with the susceptibility of endometriosis in Korean women.
키워드 : Endometriosis, Polymorphism, NAT2, GSTM1, CYP1A1
교신저자 : hslee99@samsung.co.kr
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