{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:07:22Z","timestamp":1753888042971,"version":"3.41.2"},"reference-count":21,"publisher":"FapUNIFESP (SciELO)","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"am","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["ABCD, arq. bras. cir. dig."],"abstract":"<jats:p>ABSTRACT - BACKGROUND: After bariatric surgery, if there is iron-refractory iron-deficiency anemia (IRIDA) and does not respond to supplemental iron therapy, excluding other possible etiologies, genetic changes involved in iron metabolism should be considered.  AIM:  This study aimed to investigate the association of both mutations 1285G-C and 1246C-T, in the SLC11A2 gene, and the etiopathogenesis of anemia refractory to iron supplementation in patients undergoing bariatric surgery using Roux-en-Y gastric bypass (RYGB).  METHODS:  A case-control study was conducted, in which 100 patients were evaluated as Cases Group [subdivided into (i) with Anemia and (ii) without Anemia] and 100 individuals as Controls, comprising both sexes. Inherited and acquired causes of IRIDA were excluded. DNA was extracted from leukocytes of peripheral blood, and the regions that cover both mutations have been amplified by the molecular techniques such as polymerase chain reaction\/restriction fragment length polymorphism.  RESULTS:  The 1285G-C mutation was not determined in any of the 400 alleles analyzed. Regarding the 1246C-T mutation, the wild CC genotype was found with a higher prevalence in the Control Group (34%) (OR 0.5475; 95%CI 0.2920-1.027; p=0.0827). The mutant TT genotype was found only in the Cases Group I (with Anemia) (13%).  CONCLUSION:  The results show the association between 1246C-T mutation, in the SLC11A2 gene, and the etiopathogenesis of IRIDA to iron supplementation in the evaluated sample. There are differences, at the molecular level, in patients with and without IRIDA after bariatric surgery using RYGB.<\/jats:p>","DOI":"10.1590\/0102-672020210002e1645","type":"journal-article","created":{"date-parts":[[2022,6,20]],"date-time":"2022-06-20T13:54:54Z","timestamp":1655733294000},"source":"Crossref","is-referenced-by-count":0,"title":["DOES SLC11A2 GENE MUTATION ASSOCIATE WITH IRON-REFRACTORY IRON-DEFICIENCY ANEMIA AFTER BARIATRIC SURGERY?"],"prefix":"10.1590","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2677-8243","authenticated-orcid":false,"given":"V\u00e2nia Belintani","family":"PIATTO","sequence":"first","affiliation":[{"name":"Faculty of Medicine, S\u00e3o Jose do Rio Preto,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3510-868X","authenticated-orcid":false,"given":"Danielle Lopes Teixeira","family":"FERDINANDO","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, S\u00e3o Jos\u00e9 do Rio Preto,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7755-7964","authenticated-orcid":false,"given":"Hamilton Luiz Xavier","family":"FUNES","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, S\u00e3o Jose do Rio Preto,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","published-online":{"date-parts":[[2022]]},"reference":[{"issue":"4","key":"ref1","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/j.bcmd.2011.07.004","article-title":"A novel N491S mutation in the human SLC11A2 gene impairs protein trafficking and in association with the G212V mutation leads to microcytic anemia and liver iron overload","volume":"47","author":"Bardou-Jacquet E","year":"2011","journal-title":"Blood Cells Mol Dis"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.mrrev.2018.06.003","article-title":"Rare anemias due to genetic iron metabolism defects","volume":"777","author":"Brissot P","year":"2018","journal-title":"Mutat Res Rev Mutat Res"},{"issue":"1","key":"ref3","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.tracli.2018.08.006","article-title":"Pathophysiology and classification of iron overload diseases; update 2018","volume":"26","author":"Brissot P","year":"2019","journal-title":"Transfus Clin Biol"},{"key":"ref4","first-page":"205467","article-title":"Hematological disorders following gastric bypass surgery: emerging concepts of the interplay between nutritional deficiency and inflammation","volume":"2013","author":"Chen M","year":"2013","journal-title":"Biomed Res Int"},{"issue":"2","key":"ref5","article-title":"Are enterotypes in obese modified by bariatric surgery, the use of probiotic supplements and food habits?","volume":"34","author":"De-Oliveira GJM","year":"2021","journal-title":"Arq Bras Cir Dig"},{"issue":"3","key":"ref6","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1038\/ijo.2011.159","article-title":"Incidence and prevalence of copper deficiency following roux-en-y gastric bypass surgery","volume":"36","author":"Gletsu-Miller N","year":"2012","journal-title":"Int J Obes (Lond)"},{"issue":"25","key":"ref7","doi-asserted-by":"crossref","first-page":"6660","DOI":"10.1182\/blood-2011-01-329011","article-title":"A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3\/TSAP6 gene","volume":"118","author":"Grandchamp B","year":"2011","journal-title":"Blood"},{"issue":"1","key":"ref8","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1182\/blood-2005-06-2477","article-title":"Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2)","volume":"107","author":"Iolascon A","year":"2006","journal-title":"Blood"},{"issue":"3","key":"ref9","doi-asserted-by":"crossref","first-page":"1337","DOI":"10.1182\/blood-2004-07-2966","article-title":"Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload","volume":"105","author":"Mims MP","year":"2005","journal-title":"Blood"},{"issue":"8","key":"ref10","doi-asserted-by":"crossref","first-page":"1993","DOI":"10.1007\/s11695-017-2582-0","article-title":"Status of Iron Metabolism 10 Years After Roux-En-Y Gastric Bypass","volume":"27","author":"Monaco-Ferreira DV","year":"2017","journal-title":"Obes Surg"},{"issue":"9","key":"ref11","doi-asserted-by":"crossref","first-page":"1527","DOI":"10.1007\/s00277-018-3407-5","article-title":"Copper deficiency anemia: review article","volume":"97","author":"Myint ZW","year":"2018","journal-title":"Ann Hematol"},{"issue":"4","key":"ref12","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1002\/ajh.23929","article-title":"The role of TMPRSS6 polymorphisms in iron deficiency anemia partially responsive to oral iron treatment","volume":"90","author":"Poggiali E","year":"2015","journal-title":"Am J Hematol"},{"issue":"11","key":"ref13","doi-asserted-by":"crossref","first-page":"1872","DOI":"10.1038\/ajg.2011.232","article-title":"Supplementation with oral vs. intravenous iron for anemia with IBD or gastrointestinal bleeding: is oral iron getting a bad rap?","volume":"106","author":"Rizvi S","year":"2011","journal-title":"Am J Gastroenterol"},{"key":"ref14","first-page":"99","article-title":"Genetic Causes for Iron Deficiency","volume":"32","author":"Saad STO","year":"2010","journal-title":"Rev Bras Hematol Hemoter"},{"issue":"1","key":"ref15","doi-asserted-by":"crossref","DOI":"10.1590\/0102-672020190001e1503","article-title":"Does evolutionary biology help the understanding of metabolic surgery? A focused review","volume":"33","author":"Santoro S","year":"2020","journal-title":"Arq Bras Cir Dig"},{"issue":"4","key":"ref16","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1017\/S0029665118000149","article-title":"Iron deficiency after bariatric surgery: what is the real problem?","volume":"77","author":"Steenackers N","year":"2018","journal-title":"Proc Nutr Soc"},{"issue":"5","key":"ref17","first-page":"475","article-title":"[Iron metabolism and iron-refractory iron deficiency anemia]","volume":"61","author":"Suzuki T","year":"2020","journal-title":"Rinsho Ketsueki"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"2475","DOI":"10.2147\/DDDT.S55499","article-title":"Optimizing iron delivery in the management of anemia: patient considerations and the role of ferric carboxymaltose","volume":"8","author":"Toblli JE","year":"2014","journal-title":"Drug Des Devel Ther"},{"issue":"2","key":"ref19","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/j.soard.2010.04.008","article-title":"Anemia after bariatric surgery cannot be explained by iron deficiency alone: results of a large cohort study","volume":"7","author":"von Drygalski A","year":"2011","journal-title":"Surg Obes Relat Dis"},{"issue":"7","key":"ref20","article-title":"Anaemia and related nutrient deficiencies after Roux-en-Y gastric bypass surgery: a systematic review and meta-analysis","volume":"5","author":"Weng TC","year":"2015","journal-title":"BMJ Open"},{"issue":"D1","key":"ref21","doi-asserted-by":"crossref","first-page":"D984","DOI":"10.1093\/nar\/gkx1032","article-title":"PGG.Population: a database for understanding the genomic diversity and genetic ancestry of human populations","volume":"46","author":"Zhang C","year":"2018","journal-title":"Nucleic Acids Res"}],"container-title":["ABCD. Arquivos Brasileiros de Cirurgia Digestiva (S\u00e3o Paulo)"],"original-title":["A muta\u00e7\u00e3o do gene SLC11A2 est\u00e1 associada \u00e0 anemia por defici\u00eancia de ferro refrat\u00e1ria ap\u00f3s cirurgia bari\u00e1trica?"],"link":[{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_pdf&pid=S0102-67202022000100301&tlng=en","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,26]],"date-time":"2022-07-26T21:51:48Z","timestamp":1658872308000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S0102-67202022000100301&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022]]},"references-count":21,"alternative-id":["S0102-67202022000100301"],"URL":"https:\/\/doi.org\/10.1590\/0102-672020210002e1645","relation":{},"ISSN":["2317-6326","0102-6720"],"issn-type":[{"type":"electronic","value":"2317-6326"},{"type":"print","value":"0102-6720"}],"subject":[],"published":{"date-parts":[[2022]]},"article-number":"e1645"}}