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ACSS2 gene variant associated with cleft lip and palate in two independent Hispanic populations.
Dodhia, Sonam; Celis, Katrina; Aylward, Alana; Cai, Yi; Fontana, Maria E; Trespalacios, Alberto; Hoffman, David C; Alfonso, Henry Ostos; Eisig, Sidney B; Su, Gloria H; Chung, Wendy K; Haddad, Joseph.
Afiliação
  • Dodhia S; Department of Otolaryngology-Head and Neck Surgery, Columbia University Medical Center, New York, New York, U.S.A.
  • Celis K; John P. Hussman Institute for Genomics, University of Miami, Miami, Florida, U.S.A.
  • Aylward A; Department of Otolaryngology-Head and Neck Surgery, University of Utah, Salt Lake City, Utah, U.S.A.
  • Cai Y; Department of Otolaryngology-Head and Neck Surgery, Columbia University Medical Center, New York, New York, U.S.A.
  • Fontana ME; College of Dental Medicine, Columbia University, New York, New York, U.S.A.
  • Trespalacios A; Department of Plastic Surgery, Hernando Moncaleano University Hospital, Neiva, Huila, Colombia.
  • Hoffman DC; Department of Oral and Maxillofacial Surgery, Staten Island University Hospital, Staten Island, New York, U.S.A.
  • Alfonso HO; Laboratory of Genomic Medicine, South Colombian University, Neiva, Huila, Colombia.
  • Eisig SB; Department of Craniofacial Surgery, Columbia University Medical Center, New York, New York, U.S.A.
  • Su GH; Department of Otolaryngology-Head and Neck Surgery, Columbia University Medical Center, New York, New York, U.S.A.
  • Chung WK; Pathology and Cell Biology, Columbia University Medical Center, New York, New York, U.S.A.
  • Haddad J; Pediatrics, Columbia University Medical Center, New York, New York, U.S.A.
Laryngoscope ; 127(10): E336-E339, 2017 10.
Article em En | MEDLINE | ID: mdl-28543373
OBJECTIVES/HYPOTHESIS: A candidate variant (p.Val496Ala) of the ACSS2 gene (T > C missense, rs59088485 variant at chr20: bp37 33509608) was previously found to consistently segregate with nonsyndromic cleft lip and/or palate (NSCLP) in three Honduran families. Objectives of this study were 1) to investigate the frequency of this ACSS2 variant in Honduran unrelated NSCLP patients and unrelated unaffected controls and 2) to investigate the frequency of this variant in Colombian unrelated affected NSCLP patients and unrelated unaffected controls. STUDY DESIGN: Case-control studies. METHODS: Sanger sequencing of 99 unrelated Honduran NSCLP patients and 215 unrelated unaffected controls for the p.Val496Ala ACSS2 variant was used to determine the carrier frequency in NSCLP patients and controls. Sanger sequencing of 230 unrelated Colombian NSCLP patients and 146 unrelated unaffected controls for the p.Val496Ala ACSS2 variant was used to determine the carrier frequency in NSCLP patients and controls. RESULTS: In the Honduran population, the odds ratio of having NSCLP among carriers of the p.Val496Ala ACSS2 variant was 4.0 (P = .03), with a carrier frequency of seven of 99 (7.1%) in unrelated affected and four of 215 (1.9%) in unrelated unaffected individuals. In the Colombian population, the odds ratio of having NSCLP among carriers of the p.Val496Ala ACSS2 variant was 2.6 (P = .04), with a carrier frequency of 23 of 230 (10.0%) in unrelated affected and six of 146 (4.1%) in unrelated unaffected individuals. CONCLUSIONS: These findings support the role of ACSS2 in NSCLP in two independent Hispanic populations from Honduras and Colombia. LEVEL OF EVIDENCE: NA Laryngoscope, 127:E336-E339, 2017.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acetato-CoA Ligase / Encéfalo / Fenda Labial / Fissura Palatina Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Male País/Região como assunto: America central / America do sul / Colombia / Honduras Idioma: En Revista: Laryngoscope Assunto da revista: OTORRINOLARINGOLOGIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acetato-CoA Ligase / Encéfalo / Fenda Labial / Fissura Palatina Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Male País/Região como assunto: America central / America do sul / Colombia / Honduras Idioma: En Revista: Laryngoscope Assunto da revista: OTORRINOLARINGOLOGIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos