[Polymorphism of CYP11A1 gene in Chinese patients with polycystic ovarian syndrome].
OBJECTIVE
To investigate the association between polymorphism of cytochrome P450 subfamily XIA polypeptide 1 (CYP11A1) gene and polycystic ovarian syndrome (PCOS) in Chinese population.


METHODS
From May 2005 to Dec. 2008, 290 PCOS cases treated in the First affiliated hospital of Anhui Medical University matched with 344 reproductive women as controls were enrolled in this study. Genotypes of 7 tagging single nucleotide polymorphisms (tSNP, rs12438594, rs4077582, rs9806234, rs16968477, rs4887139, rs1843090, rs11632698) covering CYP11A1 gene (r(2) > or = 0.8) and 3 microsatellite markers (D15S1547, D16S520, D15S1546) were chosed from the phase II database of Han population in HapMap data. Genotype and frequency of allele were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and haplotype of gene polymorphism were analyzed in 290 PCOS cases and 344 controls.


RESULTS
Among 7 tSNPs and 3 microsatellite markers, the frequency of rs4077582, D15S1547, D15S1546 and rs11632698 between two groups reached statistical difference (P = 0.010, 0.044, 0.018 and 0.026). The allele frequency of rs4077582, rs4887139, rs1843090, D15S1547 and D16S520 showed significant difference between two groups (P = 0.002, 0.048, 0.030, 0.001 and 0.024). Among 5 haplotype of CYP11A1 (ACGCA13/6/9AG, ACGTA16/6/11AA, GCACG12/8/8AA, GTACA14/4/7GG, GTGCA13/6/7AG), the frequency of GTACA14/4/7GG and ACGCA13/6/9AG were 7.8% (45/580) and 25.3% (147/580) in PCOS group and 11.9% and 19.6% in control group, which showed statistical difference (P < 0.05). There was no significant difference in the level of serum androgen at difference genotype from rs4077582 between two groups (P > 0.05).


CONCLUSIONS
The polymorphism of CYP11A1 gene was associated with PCOS, however, the relationship between gene sequence covered by tSNP/microsatellite markers and hyperandrogenism of PCOS should be further investigated.
Gao
Gui-hua
GH
Department of Obstetrics and Gynecology, First Affiliated Hospital of Anhui Medical University, Hefei 230022, China.
Cao
Yun-xia
YX
Yi
Long
L
Wei
Zhao-lian
ZL
Xu
Yu-ping
YP
Yang
Chi
C
D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D002681:China / Q000208:ethnology; D002786:Cholesterol Side-Chain Cleavage Enzyme / Q000235:genetics*; D017931:DNA Primers; D004958:Estradiol / Q000097:blood; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D018895:Microsatellite Repeats; D011085:Polycystic Ovary Syndrome / Q000208:ethnology / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D020641:Polymorphism, Single Nucleotide; D013739:Testosterone / Q000097:blood; D055815:Young Adult
D017931:DNA Primers; D013739:Testosterone; D004958:Estradiol; D002786:Cholesterol Side-Chain Cleavage Enzyme