{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:43:25Z","timestamp":1787013805563,"version":"build-2736575974"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,5,17]],"date-time":"2018-05-17T00:00:00Z","timestamp":1526515200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004586","name":"Funda\u00e7\u00e3o Carlos Chagas Filho de Amparo \u00e0 Pesquisa do Estado do Rio de Janeiro","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004586","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2018,9]]},"abstract":"Abstract<\/jats:title>\n \n Porphyria cutanea tarda (PCT) is a multifactorial disease; clinical expression depends on both genetic and acquired factors. Few studies have examined the connection between PCT and the regulation of iron metabolism genes other than the\n HFE<\/jats:italic>\n gene. We selected five polymorphisms in the\n CYBRD1<\/jats:italic>\n ,\n CP<\/jats:italic>\n ,\n SLC40A1<\/jats:italic>\n , and\n HAMP<\/jats:italic>\n genes to determine whether these polymorphisms can act as genetic modulators in patients with sporadic PCT. None of the 29 patients carried the C282Y mutation.\n <\/jats:p>\n Genomic DNA from 29 PCT patients was isolated. Alleles were discriminated using the ABI StepOnePlus Real\u2010Time PCR System using TaqMan Assays. The results were compared with 107 healthy individuals matched for genetic ancestry, gender, and age.<\/jats:p>\n \n European ancestry was prevalent among PCT patients (68.3%). The frequency of the TT genotype of rs13015236 in the\n SLC40A1<\/jats:italic>\n gene was higher in PCT patients (44.8%) than in controls (20.6%) (\n P<\/jats:italic>\n \u00a0<\u00a00.02). The C allele was more frequent among healthy individuals (53.3%) compared with patients (34.5%) (\n P<\/jats:italic>\n \u00a0<\u00a00.01). The rs17838832 G allele of the\n CP<\/jats:italic>\n gene was more common among PCT patients (14.3%) compared with controls (4.9%) (\n P<\/jats:italic>\n \u00a0<\u00a00.05). There was no statistically significant difference concerning the three remaining polymorphisms.\n <\/jats:p>\n \n Our data highlight a possible role for the rs17838832 single nucleotide polymorphisms in\n CP<\/jats:italic>\n in causing PCT (higher frequency of the G variant in patients). Regarding the rs13015236 single nucleotide polymorphisms in\n SLC40A1<\/jats:italic>\n , the presence of a C allele could protect against PCT.\n <\/jats:p>","DOI":"10.1111\/ahg.12253","type":"journal-article","created":{"date-parts":[[2018,5,18]],"date-time":"2018-05-18T03:00:08Z","timestamp":1526612408000},"page":"300-303","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["SLC40A1<\/i>\n and\n CP<\/i>\n single nucleotide polymorphisms in porphyria cutanea tarda patients of mixed ancestry"],"prefix":"10.1111","volume":"82","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8296-4449","authenticated-orcid":false,"given":"Isabella Brasil","family":"Succi","sequence":"first","affiliation":[{"name":"Dermatology Department Rio de Janeiro State University Rio de Janeiro Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu\u00eds Crist\u00f3v\u00e3o","family":"P\u00f4rto","sequence":"additional","affiliation":[{"name":"Histocompatibility and Criopreservation Laboratory Rio de Janeiro State University Rio de Janeiro Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dayse","family":"Silva","sequence":"additional","affiliation":[{"name":"DNA Diagnostic Laboratory Rio de Janeiro State University Rio de Janeiro Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriana","family":"Nascimento","sequence":"additional","affiliation":[{"name":"Histocompatibility and Criopreservation Laboratory Rio de Janeiro State University Rio de Janeiro Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald Costa","family":"Neto","sequence":"additional","affiliation":[{"name":"Histocompatibility and Criopreservation Laboratory Rio de Janeiro State University Rio de Janeiro Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00e3o Carlos","family":"Fonseca","sequence":"additional","affiliation":[{"name":"Dermatology Department Rio de Janeiro State University Rio de Janeiro Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,5,17]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-05-423186"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V95.5.1565.005k42_1565_1571"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.510270142"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2016.07.004"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0163322"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24535"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijd.12305"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2006-960173"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jclinpath-2012-200988"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0029684"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0700547104"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-294X.2004.02396.x"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(09)61925-5"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2015.04.001"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10709-016-9894-1"}],"container-title":["Annals 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