A Polymorphism in the Matrix Metalloproteinase-1 Gene Promoter Is Associated with the Presence of Polycystic Ovary Syndrome in Caucasian Women

    May 2005 in “ Fertility and Sterility ”
    Katharina Walch, Friedrich Nagele, Robert Zeillinger, E Vytiska-Binstorfer, Johannes Huber, Lukas Hefler
    TLDR A specific gene variation is linked to a higher risk of polycystic ovary syndrome in Caucasian women.
    This study investigated the association between a –1607 GG/G polymorphism in the matrix metalloproteinase-1 (MMP1) gene promoter and polycystic ovary syndrome (PCOS) in 62 Caucasian women with PCOS and 94 healthy controls. The results showed that women with at least one mutant GG allele had 2.7 times higher odds of being diagnosed with PCOS. Despite this significant association, no correlations were found between the MMP1 polymorphism and clinical or biochemical parameters of PCOS. The study concluded that the presence of the MMP1 polymorphism is linked to PCOS, but the exact biochemical mechanisms remain unclear.
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