{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T16:37:27Z","timestamp":1773074247354,"version":"3.50.1"},"reference-count":26,"publisher":"Walter de Gruyter GmbH","issue":"5","funder":[{"name":"Sao Paulo Research Foundation","award":["2012\/24920-9"],"award-info":[{"award-number":["2012\/24920-9"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,6,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpm-2020-0320_abs_001_w2aab3b7c14b1b6b1aab1c15b1Aa\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>To investigate the association between selected single nucleotide polymorphisms (SNPs) with cervical insufficiency and its relationship with obstetric history.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpm-2020-0320_abs_002_w2aab3b7c14b1b6b1aab1c15b2Aa\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Twenty-eight women with cervical insufficiency (case group) and 29 non-pregnant women (control group) were included. The SNPs sequenced included rs2586490 in collagen type I alpha 1 chain (<jats:italic>COL1A1<\/jats:italic>), rs1882435 in collagen type IV alpha 3 chain (<jats:italic>COL4A3<\/jats:italic>), rs2277698 in metallopeptidase inhibitor 2 (<jats:italic>TIMP2<\/jats:italic>), and rs1800468 in transforming growth factor beta 1 (<jats:italic>TGFB1<\/jats:italic>).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpm-2020-0320_abs_003_w2aab3b7c14b1b6b1aab1c15b3Aa\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We found a higher frequency of the normal allele in the control group (65.5%) and the homozygous mutated genotype in the case group (64.3%) for rs2586490 in <jats:italic>COL1A1<\/jats:italic> (p=0.023). An unplanned finding in the cervical insufficiency group was a higher gestational age of delivery (median\u226538\u00a0weeks) in the mutated allele than in the wild-type genotype (median of 28.2\u00a0weeks) for rs2857396, which is also in the <jats:italic>COL1A1<\/jats:italic> gene (p=0.011).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpm-2020-0320_abs_004_w2aab3b7c14b1b6b1aab1c15b4Aa\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The findings of the present study corroborate the hypothesis that cervical insufficiency has a genetic component and probably involves genes encoding proteins in the extracellular matrix, in addition to inflammatory processes.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpm-2020-0320","type":"journal-article","created":{"date-parts":[[2021,2,7]],"date-time":"2021-02-07T21:08:05Z","timestamp":1612732085000},"page":"553-558","source":"Crossref","is-referenced-by-count":6,"title":["<i>COL1A1<\/i>, <i>COL4A3<\/i>, <i>TIMP2<\/i> and <i>TGFB1<\/i> polymorphisms in cervical insufficiency"],"prefix":"10.1515","volume":"49","author":[{"given":"Ana Paula V. D.","family":"Alves","sequence":"first","affiliation":[{"name":"Disciplina de Obstetricia, Departamento de Obstetricia e Ginecologia , Faculdade de Medicina FMUSP, Universidade de Sao Paulo , Sao Paulo , SP , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5685-9656","authenticated-orcid":false,"given":"Amanda B.","family":"Freitas","sequence":"additional","affiliation":[{"name":"Disciplina de Obstetricia, Departamento de Obstetricia e Ginecologia , Faculdade de Medicina FMUSP, Universidade de Sao Paulo , Sao Paulo , SP , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Eduardo","family":"Levi","sequence":"additional","affiliation":[{"name":"Laboratorio de Virologia , Instituto de Medicina Tropical, Universidade de Sao Paulo , Sao Paulo , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7137-7698","authenticated-orcid":false,"given":"Antonio G.","family":"Amorim Filho","sequence":"additional","affiliation":[{"name":"Divisao de Clinica Obstetrica , Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo , Sao Paulo , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucas A. M.","family":"Franco","sequence":"additional","affiliation":[{"name":"Laboratorio de Parasitologia, Department of Infectious Disease , Instituto de Medicina Tropical, Universidade de Sao Paulo , Sao Paulo , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mara Sandra","family":"Hoshida","sequence":"additional","affiliation":[{"name":"LIM57 Laboratorio de Fisiologia Obstetrica , Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo , Sao Paulo , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth G.","family":"Pati\u00f1o","sequence":"additional","affiliation":[{"name":"Disciplina de Obstetricia, Departamento de Obstetricia e Ginecologia , Faculdade de Medicina FMUSP, Universidade de Sao Paulo , Sao Paulo , SP , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rossana P. 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