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The Role of Genetic Ancestry in Brazilian Patients With Primary Congenital Glaucoma.
Rolim, Hévila; Cronemberger, Sebastião; Rangel, Hayana; Batista, Wagner D; Bastos-Rodrigues, Luciana; De Marco, Luiz.
Afiliação
  • Rolim H; *Department of Ophthalmology, Glaucoma Service, Hospital São Geraldo ‡Instituto Nacional de Ciência e Tecnologia em Medicina Molecular (INCT/MM) ∥Department of Surgery, Universidade Federal de Minas Gerais †Glaucoma and Cataract Reference Center, Santa Casa de Belo Horizonte, Belo Horizonte §Department of Basic Sciences, Health Area, Universidade Federal de Juiz de Fora, Campus Governador Valadares, Governador Valadares, Brazil.
J Glaucoma ; 25(1): e24-8, 2016 Jan.
Article em En | MEDLINE | ID: mdl-25265008
PURPOSE: The relationship between clinical data and genetic ancestry in Brazilian patients with primary congenital glaucoma (PCG) was studied. PATIENTS AND METHODS: Thirty patients with PCG and 60 unrelated controls underwent a complete ophthalmological examination. The PCG inclusion criterion was prior surgery with a minimum follow-up of 6 months after the last surgical procedure. Clinical data were recorded and DNA from each individual was extracted and genotyped for a panel of 40 validated ancestry-informative insertion-deletion DNA polymorphisms (indels). RESULTS: Eighteen (60%) children had bilateral disease and 16 (53.3%) were male. The mean age at diagnosis was 6.3 months and surgical follow-up time varied from 8 to 85 months. For the PCG group, the proportion of Europeans, Africans, and Amerindians was 0.784±0.044 (mean±SEM), 0.149±0.035, and 0.067±0.023, respectively, whereas for the control group was 0.730±0.048, 0.132±0.034, and 0.138±0.032, respectively. An increased proportion of African indels was associated with worse surgical prognosis (P=0.036). There was also a statistically significant (P<0.05) positive correlation between axial length and African component (initial: R=0.625; final: R=0.567). CONCLUSIONS: An increased proportion of African indels was associated with worse prognosis for PCG in a mixed population. Genetic ancestry markers may be helpful in assessing risk factors for surgical outcomes in PCG. Further studies are needed to unveil the role of ancestry in heterogeneous populations such as Brazilians with PCG.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Etnicidade / Hidroftalmia / População Negra / População Branca / Mutação INDEL / Genética Populacional Tipo de estudo: Clinical_trials / Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans / Infant / Male / Newborn País/Região como assunto: America do sul / Brasil Idioma: En Revista: J Glaucoma Assunto da revista: OFTALMOLOGIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Brasil País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Etnicidade / Hidroftalmia / População Negra / População Branca / Mutação INDEL / Genética Populacional Tipo de estudo: Clinical_trials / Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans / Infant / Male / Newborn País/Região como assunto: America do sul / Brasil Idioma: En Revista: J Glaucoma Assunto da revista: OFTALMOLOGIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Brasil País de publicação: Estados Unidos