{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T04:42:31Z","timestamp":1762144951552,"version":"3.37.3"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,4,2]],"date-time":"2013-04-02T00:00:00Z","timestamp":1364860800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100013357","name":"Indian Statistical Institute","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100013357","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2013,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Polycystic Ovary Syndrome (PCOS) is the most common endocrinopathy in women of reproductive age. It is a heterogeneous androgen excess disorder determined by the interaction of multiple genetic and environmental factors. Our earlier analysis on a panel of six candidate genes (Androgen receptor CAG repeats, Follistatin, Luteinizing hormone \u03b2 subunit, Calpain10, Insulin receptor substrate\u20101 and <jats:italic>PPAR\u03b3<\/jats:italic>) based on 250 PCOS cases and 299 controls revealed significant association patterns with PCOS among South\u2010Indian women. We report here for the first time, the SNP\u2010SNP and SNP\u2010environment interactions of these genes in the same cohort. Both multivariate logistic regression as well as epistasis analysis (using Multifactor dimensionality reduction software) yielded significant results (<jats:italic>P<\/jats:italic> &lt; 0.05). All <jats:italic>CAPN10<\/jats:italic> SNPs show association (either risk\u2010conferring or protective) in the obese group, highlighting the importance of this gene in the PCOS pathophysiology. LHP7(<jats:italic>LH\u03b2<\/jats:italic>) and UCSNP44(<jats:italic>CAPN10<\/jats:italic>) emerged to be the prominent SNPs in the SNP\u2010SNP interaction analysis. The best SNP\u2010SNP interaction model was obtained between <jats:italic>CAPN10<\/jats:italic> UCSNP\u201044 and <jats:italic>PPAR\u03b3<\/jats:italic> His447His, implying a significant metabolic component in the PCOS pathology. Replicating our findings in BMI\u2010specific cohorts in different ethnic populations would be warranted in future to identify the physiological networks in PCOS.<\/jats:p>","DOI":"10.1111\/ahg.12020","type":"journal-article","created":{"date-parts":[[2013,4,3]],"date-time":"2013-04-03T03:57:27Z","timestamp":1364961447000},"page":"288-298","source":"Crossref","is-referenced-by-count":24,"title":["The Role of Epistasis in the Etiology of Polycystic Ovary Syndrome among Indian Women: SNP\u2010SNP and SNP\u2010Environment Interactions"],"prefix":"10.1111","volume":"77","author":[{"given":"Shilpi","family":"Dasgupta","sequence":"first","affiliation":[{"name":"Molecular Anthropology Group Biological Anthropology Unit, Indian Statistical Institute  Hyderabad, Andhra Pradesh India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B. Mohan","family":"Reddy","sequence":"additional","affiliation":[{"name":"Molecular Anthropology Group Biological Anthropology Unit, Indian Statistical Institute  Hyderabad, Andhra Pradesh India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,4,2]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.732"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0012401"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0032192"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2011.11.054"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.4103\/0022-3859.101386"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.04.060"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra041536"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0016390"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.3758\/BRM.41.4.1149"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/17.10.2495"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2012.92"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002714"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtbi.2005.11.036"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2005.10.054"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1353\/hub.2006.0018"},{"volume-title":"Molecular cloning: A laboratory manual","year":"1989","author":"Sambrook J.","key":"e_1_2_8_17_1"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200968"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2013012\u20131148\u20134"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2003.10.004"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0365-05962005000400011"}],"container-title":["Annals of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fahg.12020","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fahg.12020","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ahg.12020","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T17:31:08Z","timestamp":1697563868000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ahg.12020"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4,2]]},"references-count":20,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,7]]}},"alternative-id":["10.1111\/ahg.12020"],"URL":"https:\/\/doi.org\/10.1111\/ahg.12020","archive":["Portico"],"relation":{},"ISSN":["0003-4800","1469-1809"],"issn-type":[{"type":"print","value":"0003-4800"},{"type":"electronic","value":"1469-1809"}],"subject":[],"published":{"date-parts":[[2013,4,2]]}}}