Statistical Genomic Approach Identifies Association between FSHR Polymorphisms and Polycystic Ovary Morphology in Women with Polycystic Ovary Syndrome.
BACKGROUND
Single-nucleotide polymorphisms (SNPs) in the follicle stimulating hormone receptor (FSHR) gene are associated with PCOS. However, their relationship to the polycystic ovary (PCO) morphology remains unknown. This study aimed to investigate whether PCOS related SNPs in the FSHR gene are associated with PCO in women with PCOS.


METHODS
Patients were grouped into PCO (n = 384) and non-PCO (n = 63) groups. Genomic genotypes were profiled using Affymetrix human genome SNP chip 6. Two polymorphisms (rs2268361 and rs2349415) of FSHR were analyzed using a statistical approach.


RESULTS
Significant differences were found in the allele distributions of the GG genotype of rs2268361 between the PCO and non-PCO groups (27.6% GG, 53.4% GA, and 19.0% AA versus 33.3% GG, 36.5% GA, and 30.2% AA), while no significant differences were found in the allele distributions of the GG genotype of rs2349415. When rs2268361 was considered, there were statistically significant differences of serum follicle stimulating hormone, estradiol, and sex hormone binding globulin between genotypes in the PCO group. In case of the rs2349415 SNP, only serum sex hormone binding globulin was statistically different between genotypes in the PCO group.


CONCLUSIONS
Functional variants in FSHR gene may contribute to PCO susceptibility in women with PCOS.
Department of Gynecology & Obstetrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, 107 West Yanjiang Road, Guangzhou 510120, China.
Tao
T
Du
Department of Gynecology & Obstetrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, 107 West Yanjiang Road, Guangzhou 510120, China.
Yu
Y
Duan
Department of Urology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.
Kaiwen
K
Li
Department of Gynecology & Obstetrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, 107 West Yanjiang Road, Guangzhou 510120, China.
Xiaomiao
X
Zhao
Department of Gynecology & Obstetrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, 107 West Yanjiang Road, Guangzhou 510120, China.
Renmin
R
Ni
Department of Gynecology & Obstetrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, 107 West Yanjiang Road, Guangzhou 510120, China.
Yu
Y
Li
Department of Gynecology & Obstetrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, 107 West Yanjiang Road, Guangzhou 510120, China.
Dongzi
D
Yang
D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D005640:Follicle Stimulating Hormone / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D023281:Genomics / Q000379:methods; D005838:Genotype; D006801:Humans; D010053:Ovary / Q000473:pathology*; D011085:Polycystic Ovary Syndrome / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011962:Receptors, FSH / Q000235:genetics*
D011962:Receptors, FSH; D005640:Follicle Stimulating Hormone