Large-Scale Genome-Wide Meta-Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria

    December 2018 in “ PLOS Genetics
    Felix R. Day, Tugce Karaderi, Michelle R. Jones, Cindy Meun, Chunyan He, Alex Drong, Peter Kraft, Nan Lin, Hongyan Huang, Linda Broer, Reedik Mägi, Richa Saxena, Triin Laisk, Margrit Urbanek, M. Geoffrey Hayes, Guðmar Þorleifsson, Juan Fernández‐Tajes, Anubha Mahajan, Benjamin H. Mullin, Bronwyn Stuckey, Timothy D. Spector, Scott G. Wilson, Mark O. Goodarzi, Lea K. Davis, Barbara Obermayer‐Pietsch, André G. Uitterlinden, Verneri Anttila, Benjamin M. Neale, Marjo‐Riitta Järvelin, Bart C.J.M. Fauser, Irina Kowalska, Jenny A. Visser, Marianne Andersen, Ken K. Ong, Elisabet Stener‐Victorin, David A. Ehrmann, Richard S. Legro, Andres Salumets, Mark I. McCarthy, Laure Morin‐Papunen, Unnur Þorsteinsdóttir, Kári Stefánsson, Unnur Styrkársdóttir, John R. B. Perry, Andrea Dunaif, Joop S.E. Laven, Paul W. Franks, Cecilia M. Lindgren, Corrine K. Welt
    Image of study
    TLDR The research found that PCOS has common genetic factors regardless of how it is diagnosed and is linked to metabolic and reproductive issues.
    The study conducted a genome-wide meta-analysis involving 10,074 PCOS cases and 103,164 controls to explore the genetic basis of polycystic ovary syndrome (PCOS) across different diagnostic criteria. It identified 14 genetic loci associated with PCOS, including three new loci, and found that the genetic architecture was consistent across different diagnostic criteria, with only one locus differing significantly. The study also revealed genetic correlations between PCOS and metabolic traits, menopause, depression, and male-pattern balding, suggesting shared biological pathways. Mendelian randomization analysis indicated that BMI and fasting insulin levels might be causal risk factors for PCOS. The findings support the hypothesis that PCOS has a common genetic basis underlying different phenotypes and is related to both metabolic and reproductive disorders.
    Discuss this study in the Community →

    Research cited in this study

    7 / 7 results

    Related Community Posts Join

    6 / 12 results

      community How does hair loss and recovery work?

      in Chat  12 upvotes 2 months ago
      Hair loss varies due to genetic sensitivity to DHT and other factors. Treatments discussed include finasteride, minoxidil, RU58841, and microneedling.

      community C’est terrible - at my wits end

      in Female  449 upvotes 1 year ago
      A 29-year-old woman is experiencing gradual hair thinning since age 15, suspects Androgenic Alopecia, and has tried 5% minoxidil with little success. She has purchased various hair loss treatments including minoxidil, dutasteride, finasteride, and spironolactone, but is cautious about starting them due to potential interactions with her ADHD medication.

      community Female, 30, PCOS diagnosis, MPB Norwood 2. Endo refuses to give anything other than Spironolactone. Feel like I’m at my wit’s end here.

      in Female  56 upvotes 1 year ago
      A 30-year-old female with PCOS and male pattern baldness is frustrated with her endocrinologist's recommendation of only Spironolactone and minoxidil, feeling that dutasteride, finasteride, and progesterone would be more effective. Other users suggest various online sources for treatments, warn against self-medicating due to potential risks, and recommend seeking a specialized endocrinologist or considering additional treatments like Inositol, Berberine, and dermaneedling.

      community Why balding gets worse in every generation?

      in Chat  81 upvotes 4 months ago
      Balding seems to worsen with each generation, possibly due to stress, diet, and environmental factors. The user started treatments like Minoxidil and finasteride.

    Related Research

    4 / 4 results