Abstract
The aim of this study was to explore β2-adrenoceptor (ADRB2) haplotype associations with phenotypes and quantitative traits related to insulin resistance (IR) and the metabolic syndrome (MS) in a polycystic ovary syndrome (PCOS) population. A secondary purpose was to assess the association between ADRB2 haplotype and PCOS. Genetic polymorphism analysis. Cross-sectional case-control association study. Medical University Hospital and research laboratory. One hundred and sixty-five unrelated women with PCOS and 116 unrelated women without PCOS (control sample). Clinical and biochemical measurements, and ADRB2 genotyping in PCOS patients and control subjects. ADRB2 haplotypes (comprising rs1042711, rs1801704, rs1042713 and rs1042714 in that order), genotyping and statistical analysis to evaluate associations with continuous variables and traits related to IR and MS in a PCOS population. Associations between ADRB2 haplotypes and PCOS were also assessed. We observed an age-adjusted association between ADRB2 haplotype CCGG and lower insulin (P = 0·018) and HOMA (P = 0·008) in the PCOS sample. Interestingly, the expected differences in surrogate measures of IR between cases and controls were not significant in CCGG/CCGG carriers. In the case-control study, genotype CCGG/CCGG was associated with a 14% decrease in PCOS risk (P = 0·043), taking into account confounding variables. Haplotype I (CCGG) has a protective role for IR and MS in PCOS.
Highlights
Polycystic ovary syndrome (PCOS) is recognised as the most common endocrine disorder in women of reproductive age [1,2,3]
We identified the 3 main haplotypes that we previously observed in another Argentinian sample [25], which correlated with the haplotypes first described by Drysdale et al [27]
Differences in insulin and Homeostasis Model Assessment (HOMA) remained significant after taking into account age (p = 0.021 and p = 0.010, respectively) and after adjusting for age and BMI (p = 0.035 and p = 0.017, respectively) in the PCOS sample. rs1042713 and rs1042714 allele and genotype frequencies did not differ significantly between PCOS cases and control subjects. This is the first report that explores ADRB2 haplotypes for their association with phenotypes and quantitative metabolic traits related to insulin resistance (IR), obesity and lipid metabolism, in a Caucasian PCOS population
Summary
Polycystic ovary syndrome (PCOS) is recognised as the most common endocrine disorder in women of reproductive age [1,2,3]. In PCOS, catecholamine-induced lipolysis is reduced in subcutaneous (sc) fat [7] but increased in visceral fat [8], resulting in an increase in lipid content in fat cells and excess of fatty acid delivery to the liver which could lead to hyperinsulinaemia, glucose intolerance, and dyslipidaemia [9,10]. Such lipolysis defects are identical to those observed in the metabolic syndrome (MS) so it could be a primary pathogenic mechanism for the development of the three disorders: obesity, PCOS and MS
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