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dc.titleBrazilian Multicenter Study Of Association Between Polymorphisms In Crispld2 And Jarid2 And Non-syndromic Oral Cleftsen
dc.contributor.authorAna Camila; Machadopt_BR
dc.contributor.authorRenato Assis; de Oliveirapt_BR
dc.contributor.authorCarine Ervolino; Martelli-Juniorpt_BR
dc.contributor.authorHercilio; de Almeida Reispt_BR
dc.contributor.authorSilvia Regina; Bertolossi Moreirapt_BR
dc.contributor.authorHelenara Salvati; Persuhnpt_BR
dc.contributor.authorDarlene Camati; Wupt_BR
dc.contributor.authorTao; Colettapt_BR
dc.contributor.authorRicardo D.pt_BR
unicamp.authorColetta, Ricardo D.] Univ Estadual Campinas, Sch Dent, Dept Oral Diag, BR-13414018 Sao Paulo, Brazilpt_BR[Messetti, Ana Camilapt_BR, Renato Assispt_BR Oliveira, Carine Ervolinopt_BR[Martelli-Junior, Hercilio] Univ Estadual Montes Claros, Sch Dent, Stomatol Clin, Montes Claros, Minas Gerais, Brazilpt_BR[Martelli-Junior, Hercilio] Univ Jos Rosario Vellano, Ctr Rehabil Craniofacial Anomalies, Sch Dent, Alfenas, Minas Gerais, Brazilpt_BR[de Almeida Reis, Silvia Regina] Bahiana Sch Med & Publ Hlth, Dept Basic Sci, Salvador, BA, Brazilpt_BR[Bertolossi Moreira, Helenara Salvati] State Univ Western Parana, Dept Physiotherapy, Cascavel, Parana, Brazilpt_BR[Persuhn, Darlene Camati] Univ Fed Paraiba, Dept Mol Biol, BR-58059900 Joao Pessoa, Paraiba, Brazilpt_BR[Wu, Tao] Peking Univ, Sch Publ Hlth, Beijing 100871, Peoples R Chinapt_BR
dc.subjectCleft Lip And/or Palateen
dc.subjectSingle-nucleotide Polymorphismen
dc.description.abstractVariants in the cysteine-rich secretory protein LCCL domain containing 2 gene (CRISPLD2) and in the jumonji, AT-rich interaction domain 2 gene (JARID2) were previously shown to influence non-syndromic oral cleft susceptibility. Herein, we performed a case-control study to examine the potential association of single-nucleotide polymorphisms (SNPs) in CRISPLD2 and JARID2 with non-syndromic cleft lip and/or palate (NSCL/P) in the Brazilian population. Given the ethnicity-dependent genetic predisposition to NSCL/P, we performed a structured analysis taking into account the genomic ancestry variation of each individual. METHODS: Four SNPs in CRISPLD2 (rs1546124, rs8061351, rs2326398, and rs4783099) and four in JARID2 (rs915344, rs2299043, rs2237138, and rs2076056), that were previously reported to be associated with NSCL/P, were genotyped in 785 Brazilian patients with NSCL/P (549 with cleft lip with or without cleft palate-NSCL +/- P, and 236 with cleft palate only-NSCPO) and 693 unaffected Brazilian controls. Genomic ancestry was assessed with a set of 40 biallelic short insertion/deletion variants previously validated as ancestry informative markers of the Brazilian population. RESULTS: After adjustment of ancestry variations, allelic analysis revealed marginal associations between the CRISPLD2 rs4783099 T allele and increased risk for NSCPO (OR: 1.31, 95% CI: 1.05-1.62, P = 0.01) and between JARID2 rs2237138 and decreased NSCL +/- P risk (OR: 0.80, 95% CI: 0.67-0.97, P = 0.02). Haplotype analysis indicated a lack of association between JARID2 haplotypes and non-syndromic oral cleft risk. CONCLUSIONS: Our results suggest that CRISPLD2 rs4783099 may represent a risk factor for NSCPO while JARID2 rs2237138 shows a protective effect against NSCL +/- P in the Brazilian population.en
dc.relation.ispartofJournal of Oral Pathology & Medicinept_BR
dc.identifier.citationJournal Of Oral Pathology & Medicine. Wiley-blackwell, v. 46, p. 232 - 239, 2017.pt_BR
dc.description.sponsorshipNational Council for Scientific and Technological Development-CNPqpt_BR
dc.description.sponsorshipProcad/Casadinho-CNPq/CAPES, Brasilia, Brazilpt_BR
dc.description.sponsorshipFundacao de Amparo a Pesquisa do Estado de Minas Gerais-FAPEMIG, Belo Horizonte, Brazilpt_BR
dc.description.sponsorship1Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)pt_BR
dc.description.sponsorship1Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)pt_BR
dc.description.sponsorship1Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)pt_BR
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