The Polycystic Ovary Syndrome Evolutionary Paradox: A Genome-Wide Association Studies-Based, In Silico, Evolutionary Explanation

    August 2014 in “ The Journal of Clinical Endocrinology and Metabolism ”
    Livio Casarini, Giulia Brigante
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    TLDR The research suggests that the global distribution of PCOS is likely due to historical human migration and that genes affecting PCOS may have different impacts on males and females.
    The study by Casarini and Brigante investigated the genetic basis of Polycystic Ovary Syndrome (PCOS) and its distribution across different human populations. They analyzed 17 single nucleotide polymorphisms (SNPs) associated with PCOS using data from the 1000 Genomes, HapMap, and Human Genome Diversity Project databases. The study found that individuals with PCOS were assigned to five genetic clusters corresponding to different world regions, with two main PCOS phenotypes showing varying degrees of affinity. The genetic distance between these clusters increased with geographic distance, suggesting that the distribution of PCOS is likely due to genetic drift from a serial founder effect during human migrations, rather than natural selection. The study also proposed intralocus sexual conflict as a reason for the disease's prevalence, indicating that alleles may have different fitness effects in males and females. This understanding of PCOS's genetic background could inform treatment and assisted reproduction protocols.
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