Association of polymorphisms in the β2 and β3 adrenoceptor gene with polycystic ovary syndrome

OBJECTIVE: To investigate polymorphisms of the beta 2 and beta 3 adrenoceptor (BAR-2 and BAR-3, respectively) genes associated with insulin-resistant polycystic ovary syndrome (PCOS) pathogenesis. STUDY DESIGN: Fifty-nine infertile Japanese women with PCOS and 97 healthy Japanese controls were studied. Blood metabolites and genomic DNA polymorphisms of BAR-2 (Arg16Glu) and Gln27Glu and BAR-3 (Trp64Arg) were analyzed. RESULTS: The PCOS group had significantly higher weight, body mass index, lipidemia and insulin resistance as compared to the control group. Glu 27 allele frequency in BAR-2 was significantly higher in PCOS patients as compared to the controls (0.07 vs 0.02, chi(2) = 5.91 p = 0.02, OR 4.63, 95% CI 1.35-5.93), while Gly 16 allele frequency was only slightly higher in the PCOS group as compared to the controls (0.58 vs. 0.47, chi(2) = 3.06, p = 0.08, OR 1.51, 95% CI 0.95-2.40). The Arg 64 allele frequency of BAR-3 was not significantly different between the 2 groups. Women with the Gly/Gly genotype for codon 16 or with either the Gln/Gln or Glu/Glu genotype for the codon 27 polymorphism of BAR-2 had significantly higher insulin resistance than those with the Arg/Arg and Gln/Gln genotypes. CONCLUSION: The polymorphism in codon 27 (Gln/Gln) of BAR-2 is linked to the expression of PCOS in Japanese women.