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Its etiology and the role of IR and obesity in PCOS are not fully understood. We examined the influence of validated genetic variants conferring susceptibility to obesity and\/or type 2 diabetes mellitus (T2DM) on metabolic and PCOS-specific traits in patients with PCOS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We conducted an association study in 386 patients with PCOS (defined by the Rotterdam-criteria) using single nucleotide polymorphisms (SNPs) in or in proximity to the fat mass and obesity associated gene<jats:italic>(FTO<\/jats:italic>), insulin-induced gene-2 (<jats:italic>INSIG2<\/jats:italic>), transcription factor 7-like 2 gene (<jats:italic>TCF7L2<\/jats:italic>) and melanocortin 4 receptor gene (<jats:italic>MC4R<\/jats:italic>). To compare the effect of<jats:italic>FTO<\/jats:italic>obesity risk alleles on BMI in patients with PCOS to unselected females of the same age range we genotyped 1,971 females from the population-based KORA-S4 study (<jats:italic>Kooperative Gesundheitsforschung im Raum Augsburg<\/jats:italic>, Survey 4).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The<jats:italic>FTO<\/jats:italic>risk allele was associated with IR traits and measures of increased body weight. In addition, the<jats:italic>TCF7L2<\/jats:italic>SNP was associated with body weight traits. For the SNPs in the vicinity of<jats:italic>INSIG2<\/jats:italic>and<jats:italic>MC4R<\/jats:italic>and for the other examined phenotypes there was no evidence for an association. In PCOS the observed per risk allele effect of<jats:italic>FTO<\/jats:italic>intron 1 SNP rs9939609 on BMI was +1.56 kg\/m<jats:sup>2<\/jats:sup>, whereas it was +0.46 kg\/m<jats:sup>2<\/jats:sup>in females of the same age range from the general population as shown previously.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The stronger effect on body weight of the<jats:italic>FTO<\/jats:italic>SNP in PCOS might well have implications for the etiology of the disease.<\/jats:p><\/jats:sec>","DOI":"10.1186\/1471-2350-11-12","type":"journal-article","created":{"date-parts":[[2010,1,21]],"date-time":"2010-01-21T19:38:40Z","timestamp":1264102720000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":79,"title":["Large effects on body mass index and insulin resistance of fat mass and obesity associated gene (FTO) variants in patients with polycystic ovary syndrome (PCOS)"],"prefix":"10.1186","volume":"11","author":[{"given":"Susanne","family":"Tan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Scherag","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Onno Eilard","family":"Janssen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Hahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harald","family":"Lahner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiina","family":"Dietz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susann","family":"Scherag","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harald","family":"Grallert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla Ivane Ganz","family":"Vogel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rainer","family":"Kimmig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Illig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus","family":"Mann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Hebebrand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anke","family":"Hinney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2010,1,21]]},"reference":[{"key":"573_CR1","doi-asserted-by":"publisher","first-page":"2745","DOI":"10.1210\/jc.2003-032046","volume":"89","author":"R Azziz","year":"2004","unstructured":"Azziz R, Woods KS, Reyna R, Key TJ, Knochenhauer ES, Yildiz BO: The prevalence and features of the polycystic ovary syndrome in an unselected population. 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