Objective
To evaluate genes involved in androgen receptor (AR) signaling as candidate genes for polycystic ovary syndrome (PCOS).
Design
Two groups of PCOS and control women (discovery and replication cohorts) were genotyped for single nucleotide polymorphisms (SNPs) in eight genes for AR chaperones and co-chaperones: HSPA1A, HSPA8, ST13, STIP1, PTGES3, FKBP4, BAG1, and STUB1. SNPs were tested for association with PCOS status, and with androgenic and metabolic parameters.
Setting
Tertiary referral center.
Patients
Discovery cohort: 354 PCOS and 161 control women. Replication cohort: 397 PCOS and 306 control women.
Interventions
Phenotypic and genotypic assessment.
Main outcome measures
SNP genotypes, association with PCOS status, and androgenic and metabolic parameters.
Results
In the discovery cohort, FKBP4 SNPs rs2968909 and rs4409904 were associated with lower odds of PCOS. This finding was not confirmed in the replication cohort analysis; however, when combining the two cohorts, rs4409904 was associated with lower odds of PCOS. In PCOS subjects in the replication cohort as well as in the combined cohort, rs2968909 was associated with lower BMI.
Conclusions
SNPs in FKBP4, which codes for the AR co-chaperone FKBP52, may be associated with PCOS and BMI in PCOS patients. The remaining genes studied do not appear to be major contributors to the development of PCOS. These findings warrant confirmation in future studies, and genes encoding other androgen pathway components remain to be studied.
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