Common Variants in the Sex Hormone-Binding Globulin Gene (SHBG) and Polycystic Ovary Syndrome (PCOS) in Mediterranean Women

    September 2012 in “ Human Reproduction ”
    M. Ángeles Martínez-García, Alessandra Gambineri, Macarena Alpañés, Raul Sanchón, Renato Pasquali, Héctor F. Escobar-Morreale
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    TLDR Certain genetic variations in the SHBG gene are linked to an increased or decreased risk of PCOS in Mediterranean women.
    The study, which included 1004 premenopausal Mediterranean women (281 with PCOS and 723 controls), found that the rs727428 and rs6259 variants in the SHBG gene were associated with PCOS, with the rs727428 variant increasing the odds of having PCOS by 1.29 and the rs6259 variant decreasing the odds by 0.68. However, the rs1799941 and rs6257 variants showed no association with PCOS. The associations were independent of obesity and did not influence serum SHBG concentrations. The findings suggest that while SHBG variants are associated with PCOS, they do not have a strong or causative role in its development. The study also noted that PCOS is a complex condition influenced by multiple genetic and environmental factors.
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