Genetics and Molecular Biology, Department of Microbiology, Immunology and Biotechnology, School of Pharmacy and Biochemistry, University of Buenos Aires (UBA), Buenos Aires, Argentina.
Clin Endocrinol (Oxf). 2013 Apr;78(4):600-6. doi: 10.1111/cen.12019.
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.
本研究旨在探讨β2-肾上腺素能受体（ADRB2）单倍型与胰岛素抵抗（IR）和代谢综合征（MS）相关表型和定量特征在多囊卵巢综合征（PCOS）人群中的关联性。次要目的是评估 ADRB2 单倍型与 PCOS 之间的关联性。
遗传多态性分析。横断面病例对照关联研究。
医科大学医院和研究实验室。
165 名无相关性的 PCOS 患者和 116 名无相关性的非 PCOS 患者（对照样本）。
对 PCOS 患者和对照受试者进行临床和生化测量以及 ADRB2 基因分型。
ADRB2 单倍型（按 rs1042711、rs1801704、rs1042713 和 rs1042714 的顺序排列），基因分型和统计分析，以评估与 PCOS 人群中 IR 和 MS 相关的连续变量和特征的关联性。还评估了 ADRB2 单倍型与 PCOS 之间的关联性。
我们观察到，在 PCOS 样本中，ADRB2 单倍型 CCGG 与较低的胰岛素（P=0.018）和 HOMA（P=0.008）存在年龄调整后的关联。有趣的是，在 CCGG/CCGG 携带者中，IR 的替代测量值之间的预期差异在病例和对照组之间并不显著。在病例对照研究中，考虑到混杂因素，CCGG/CCGG 基因型与 PCOS 风险降低 14%相关（P=0.043）。
单倍型 I（CCGG）对 PCOS 中的 IR 和 MS 具有保护作用。
