Polymorphisms and haplotypes of the gene encoding the estrogen-metabolizing CYP19 gene in Korean women: no association with advanced-stage endometriosis

被引:19
作者
Hur, Sung Eun
Lee, Sara
Lee, Ji Young
Moon, Hye-Sung
Kim, Hyung Lae
Chung, Hye Won
机构
[1] Ewha Womans Univ, Mokdong Hosp, Dept Obstet & Gynecol, Seoul 158710, South Korea
[2] Konyang Univ, Coll Med, Dept Obstet & Gynecol, Taejon, South Korea
[3] Konkuk Univ, Sch Med, Dept Obstet & Gynecol, Seoul, South Korea
[4] Ewha Womans Univ, Sch Med, Dept Biochem, Seoul, South Korea
关键词
CYP19 gene polymorphism; haplotype; estrogen-metabolizing gene; advanced-stage endometriosis;
D O I
10.1007/s10038-007-0174-x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A variety of factors affect the development of endometriosis, including hormonal status and genetic factors. The growth of endometriosis is stimulated by local estrogen production in conjunction with circulating estrogen. The CYP19 gene encodes a steroid aromatase that catalyses the conversion of C-19 androgens to estrogens. This study investigated whether polymorphisms of the CYP19 gene are associated with the risk of advanced endometriosis in Korean women. Blood samples were collected from 224 female patients with endometriosis of stages III and IV, as diagnosed by both pathologic and laparoscopic findings, and from a control group comprising of 188 women undergoing laparoscopic surgery or laparotomy for nonmalignant lesions. Single-nucleotide polymorphisms, restriction fragment length polymorphisms, and tetranucleotide tandem repeat polymorphisms were discriminated by the polymerase chain reaction (PCR). Haplotype analysis was also performed. CYP19 115T > C, 240G > A, and 1531C > T polymorphisms and [TTTA]n tetranucleotide repeat polymorphisms in the CYP19 gene and their haplotypes were not significantly associated with the risk of endometriosis. The risk of endometriosis also did not increase significantly with the number of higher risk alleles of the CYP19 gene. In conclusion, our findings suggest that CYP19 genetic polymorphisms are not associated with advanced-stage endometriosis in Korean women.
引用
收藏
页码:703 / 711
页数:9
相关论文
共 38 条
[1]  
*AM FERT SOC, 1985, FERTIL STERIL, V43, P351
[2]   CYP1A1, CYP19, and GSTM1 polymorphisms increase the risk of endometriosis [J].
Arvanitis, DA ;
Koumantakis, GE ;
Goumenou, AG ;
Matalliotakis, IM ;
Koumantakis, EE ;
Spandidos, DA .
FERTILITY AND STERILITY, 2003, 79 :702-709
[3]   Glutathione S-transferase M1 gene polymorphism and susceptibility to endometriosis in a French population [J].
Baranova, H ;
Bothorishvilli, R ;
Canis, M ;
Albuisson, E ;
Perriot, S ;
Glowaczower, E ;
Bruhat, MA ;
Baranov, V ;
Malet, P .
MOLECULAR HUMAN REPRODUCTION, 1997, 3 (09) :775-780
[4]   ESTROGEN AND PROGESTERONE RECEPTORS IN ENDOMETRIOTIC TISSUE AND ENDOMETRIUM - COMPARISON OF DIFFERENT CYCLE PHASES AND AGES [J].
BERGQVIST, A ;
FERNO, M .
HUMAN REPRODUCTION, 1993, 8 (12) :2211-2217
[5]  
Bulun SE, 2004, SEMIN REPROD MED, V22, P45
[6]   Aromatase in endometriosis and uterine leiomyomata [J].
Bulun, SE ;
Imir, G ;
Utsunomiya, H ;
Thung, S ;
Gurates, B ;
Tamura, M ;
Lin, ZH .
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, 2005, 95 (1-5) :57-62
[7]   The proline form of p53 codon 72 polymorphism is associated with endometriosis [J].
Chang, CC ;
Hsieh, YY ;
Tsai, FJ ;
Tsai, CH ;
Tsai, HD ;
Lin, CC .
FERTILITY AND STERILITY, 2002, 77 (01) :43-45
[8]   Endometriosis associated with the N314D mutation of galactose-1-phosphate uridyl transferase (GALT) [J].
Cramer, Daniel W. ;
Hornstein, M. D. ;
Ng, W. G. ;
Barbieri, R. L. .
MOLECULAR HUMAN REPRODUCTION, 1996, 2 (03) :149-152
[9]   Association of estrogen receptor gene polymorphisms with endometriosis [J].
Georgiou, I ;
Syrrou, M ;
Bouba, I ;
Dalkalitsis, N ;
Paschopoulos, M ;
Navrozoglou, I ;
Lolis, D .
FERTILITY AND STERILITY, 1999, 72 (01) :164-166
[10]  
Haiman CA, 2002, CANCER EPIDEM BIOMAR, V11, P215