{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T07:43:26Z","timestamp":1775029406206,"version":"3.50.1"},"reference-count":44,"publisher":"Wiley","license":[{"start":{"date-parts":[[2021,12,6]],"date-time":"2021-12-06T00:00:00Z","timestamp":1638748800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","award":["54\/7\/2013-BMS-HUM"],"award-info":[{"award-number":["54\/7\/2013-BMS-HUM"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["International Journal of Endocrinology"],"published-print":{"date-parts":[[2021,12,6]]},"abstract":"<jats:p>Background. Polycystic ovary syndrome (PCOS) is the most common endocrine metabolic disorder affecting premenopausal women. Besides primary features like anovulation, hyperandrogenism, and polycystic ovaries, women with PCOS present with multiple metabolic, cardiovascular, and psychological disorders. The etiology is multifactorial and the different genetic variants are suggested to play an important role in pathogenesis. Insulin resistance is a ubiquitous finding in PCOS and SNPs in genes involved in the insulin signaling pathway are possible candidates that can explain the development of clinical manifestations of PCOS. Aim. We aimed to investigate the association of INSR His1058 C\/T (rs1799817) single nucleotide polymorphism with PCOS in Kashmiri women. The genotypic-phenotypic correlation of the tested SNP with hyperandrogenism, ovulatory dysfunction, and metabolic markers was evaluated. Results. The allele frequency (OR\u2009=\u20091.00, 95% CI\u2009=\u20090.67\u20131.48, \u03c72\u2009=\u20090.01, <jats:inline-formula>\n                     <a:math xmlns:a=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\">\n                        <a:mi>P<\/a:mi>\n                        <a:mo>=<\/a:mo>\n                        <a:mn>0.99<\/a:mn>\n                     <\/a:math>\n                  <\/jats:inline-formula>) and genotype distribution (\u03c72\u2009=\u20093.73, <jats:inline-formula>\n                     <c:math xmlns:c=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M2\">\n                        <c:mi>P<\/c:mi>\n                        <c:mo>=<\/c:mo>\n                        <c:mn>0.15<\/c:mn>\n                     <\/c:math>\n                  <\/jats:inline-formula>) in INSR C\/T polymorphism were comparable with controls. No significant association was found with PCOS in dominant (<jats:inline-formula>\n                     <e:math xmlns:e=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M3\">\n                        <e:mi>P<\/e:mi>\n                        <e:mo>=<\/e:mo>\n                        <e:mn>0.194<\/e:mn>\n                     <\/e:math>\n                  <\/jats:inline-formula>), recessive (<jats:inline-formula>\n                     <g:math xmlns:g=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M4\">\n                        <g:mi>P<\/g:mi>\n                        <g:mo>=<\/g:mo>\n                        <g:mn>0.442<\/g:mn>\n                     <\/g:math>\n                  <\/jats:inline-formula>), and homo vs. het. (<jats:inline-formula>\n                     <i:math xmlns:i=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M5\">\n                        <i:mi>P<\/i:mi>\n                        <i:mo>=<\/i:mo>\n                        <i:mn>0.5<\/i:mn>\n                     <\/i:math>\n                  <\/jats:inline-formula>) genotype models. Genotype-phenotype correlation analysis revealed that variant TT genotype had significantly higher HOMA (<jats:inline-formula>\n                     <k:math xmlns:k=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M6\">\n                        <k:mi>P<\/k:mi>\n                        <k:mo>=<\/k:mo>\n                        <k:mn>0.029<\/k:mn>\n                     <\/k:math>\n                  <\/jats:inline-formula>) and reduced insulin sensitivity QUICKI (<jats:inline-formula>\n                     <m:math xmlns:m=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M7\">\n                        <m:mi>P<\/m:mi>\n                        <m:mo>=<\/m:mo>\n                        <m:mn>0.037<\/m:mn>\n                     <\/m:math>\n                  <\/jats:inline-formula>) values. There was no significant variation in the prevalence of hirsutism, acne, alopecia, menstrual disturbances, acanthosis nigricans, and obesity (all <jats:inline-formula>\n                     <o:math xmlns:o=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M8\">\n                        <o:mi>P<\/o:mi>\n                        <o:mo>&gt;<\/o:mo>\n                        <o:mn>0.05<\/o:mn>\n                     <\/o:math>\n                  <\/jats:inline-formula>) in different INSR C\/T genotypes. Conclusion. The INSR C\/T SNP (rs1799817) does not increase the risk of PCOS in Kashmiri women. This SNP is unlikely to play a significant role in the development and manifestation of clinical symptoms of polycystic ovary syndrome.<\/jats:p>","DOI":"10.1155\/2021\/7522487","type":"journal-article","created":{"date-parts":[[2021,12,6]],"date-time":"2021-12-06T21:05:09Z","timestamp":1638824709000},"page":"1-10","source":"Crossref","is-referenced-by-count":8,"title":["Clinical Manifestations of Hyperandrogenism and Ovulatory Dysfunction Are Not Associated with His1058 C\/T SNP (rs1799817) Polymorphism of Insulin Receptor Gene Tyrosine Kinase Domain in Kashmiri Women with PCOS"],"prefix":"10.1155","volume":"2021","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4357-0367","authenticated-orcid":true,"given":"Shayaq Ul Abeer","family":"Rasool","sequence":"first","affiliation":[{"name":"Department of Biotechnology, University of Kashmir, Srinagar, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4612-4397","authenticated-orcid":true,"given":"Sairish","family":"Ashraf","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, University of Kashmir, Srinagar, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5635-2393","authenticated-orcid":true,"given":"Mudasar","family":"Nabi","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, University of Kashmir, Srinagar, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8664-9614","authenticated-orcid":true,"given":"Shariq R.","family":"Masoodi","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3375-4784","authenticated-orcid":true,"given":"Khalid M.","family":"Fazili","sequence":"additional","affiliation":[{"name":"Department of Biotechnology, University of Kashmir, Srinagar, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1631-3429","authenticated-orcid":true,"given":"Shajrul","family":"Amin","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, University of Kashmir, Srinagar, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1093\/humrep\/der396","article-title":"Consensus on women\u2019s health aspects of polycystic ovary syndrome (PCOS)","volume":"27","author":"Amsterdam ESHRE\/ASRM-Sponsored 3rd PCOS Consensus Workshop Group","year":"2012","journal-title":"Human Reproduction"},{"key":"2","first-page":"74","article-title":"Prevalence of clinical manifestations of polycystic ovary syndrome in Kashmiri women","volume":"9","author":"S. 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Mutib","year":"2014","journal-title":"Iranian Journal of Reproductive Medicine"},{"key":"44","first-page":"109","article-title":"An association study between INSR\/NsiI (rs2059806) and INSR\/PmlI (rs1799817) SNPs in women with polycystic ovary syndrome from west Azerbaijan province","volume":"16","author":"M. Bagheri","year":"2015","journal-title":"Journal of Reproduction & Infertility"}],"container-title":["International Journal of Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/ije\/2021\/7522487.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/ije\/2021\/7522487.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/ije\/2021\/7522487.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,6]],"date-time":"2021-12-06T21:05:26Z","timestamp":1638824726000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/ije\/2021\/7522487\/"}},"subtitle":[],"editor":[{"given":"Ma gorzata","family":"Kotula Balak","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2021,12,6]]},"references-count":44,"alternative-id":["7522487","7522487"],"URL":"https:\/\/doi.org\/10.1155\/2021\/7522487","relation":{},"ISSN":["1687-8345","1687-8337"],"issn-type":[{"value":"1687-8345","type":"electronic"},{"value":"1687-8337","type":"print"}],"subject":[],"published":{"date-parts":[[2021,12,6]]}}}