[Association study between a polymorphism of aldosterone synthetase gene and the pathogenesis of polycystic ovary syndrome].
OBJECTIVE
To investigate the relationship between -344T polymorphism in aldosterone synthetase (CYP11B2) gene promoter region and the pathogenesis of polycystic ovary syndrome (PCOS).


METHODS
Ninety two patients with PCOS and controls were genotyped according to the fragment length (273 bp and or 202 bp) of CYP11B2 gene promoter by the technique of polymerase chain reaction-restriction fragment length polymorphism. The levels of luteinizing hormone, follicular stimulating hormone, estrodiol, progesterone, prolactin, testosterone, plasma renin activity (PRA), plasma angiotensin II (PANG II) and aldosterone in the basal state were also determined. Different genotypes between PCOS were compared about their levels of PRA, PANG II, aldosterone and testosterone.


RESULTS
(1) The C allele frequencies of CYP11B2 gene in control and PCOS was 22% and 36%, respectively. (2) The frequency of variants (TC, CC) of CYP11B2 gene -344T polymorphism site in PCOS (57%) was significantly higher than that of control subjects (37%). (3) The level of PRA, PANG II, aldosterone, testosterone were all significantly higher in the genotype of -344CC than in that of -344TT in PCOS and normal women (P < 0.01).


CONCLUSIONS
(1) The variants (T-->C) of -344T polymorphism site of CYP11B2 gene predisposes increased risk of PCOS. (2) The genotype of -344CC, -344TC may be susceptible genotype of PCOS and has related to the enhanced functional activity of ovarian renin angiotensin system in PCOS.
Zhao
Shu-ping
SP
Department of Obstetrics and Gynecology, Affiliated Hospital of Medical College of Qingdao University, Qingdao 266003, China.
Tang
Xiu-ming
XM
Shao
Dong-hong
DH
Dai
Hong-ying
HY
Dai
Shu-zhen
SZ
D000328:Adult; D000450:Aldosterone / Q000097:blood; D019405:Cytochrome P-450 CYP11B2 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D011085:Polycystic Ovary Syndrome / Q000201:enzymology* / Q000209:etiology* / Q000235:genetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012084:Renin-Angiotensin System / Q000502:physiology
D000450:Aldosterone; D019405:Cytochrome P-450 CYP11B2