A high level of familial aggregation has been observed for PCOS
5x risk of PCOS if mother has PCOS
a cohort of twins studied in the Netherlands estimated the heritability of PCOS to be ~70%.
More recently, the prevalence of all three traits of PCOS, hyperandrogenism, ovulatory dysfunction, and PCOM was compared in the daughters born to women with and without PCOS several years after menarche. This was found to be 16.2% (7/43) in the daughters born to women with PCOS, while none of those born to women without PCOS (0/28) exhibited all of these three characteristics.26
Candidate genes suggested by genome-wide association studies (GWAS) include genes that regulate gonadotropin secretion and action and ovarian function, such as FSHB (follicle-stimulating hor- mone B polypeptide), LHCGR (luteinizing hormone/choriogonado- tropin receptor), FSHR (follicle-stimulating hormone receptor), AMH, and DENND1A (DENN domain containing 1A); and genes associated with metabolism, such as THADA (thyroid adenoma-associated gene) and INSR (insulin receptor).
12 PCOS loci identified by GWAS in Chinese individuals in patients of Northern European descent showed similar effect sizes and directions in both ethnic groups.
implying that PCOS was present at least 50 000–60 000 years ago, when their ancestors migrated out of Africa and then racially diverged, and further implies a common genetic risk profile across populations.32–34
These findings are consistent with the absence of differences in the prevalence of PCOS in people of differing ethnic- ity when identical diagnostic criteria are used
estimated that the loci identified by GWAS account for less than 10% of its high heritability.
multifactorial etiology: the exposure of individuals with predisposing genetic factors to potent environmental factors drives the development of the vari- ous PCOS phenotypes.
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Genetics
