European Ancestry Predominates in Neuromyelitis Optica and Multiple Sclerosis Patients from Brazil
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2013-03-20
Autores
Souza, Doralina Guimarães Brum [UNESP]
Luizon, Marcelo Rizzatti
Santos, Antônio Carlos
Lana-Peixoto, Marco Aurélio
Rocha, Cristiane Franklin
Brito, Maria Lucia
de Oliveira, Enedina Maria Lobato
Bichuetti, Denis Bernardi
Gabbai, Alberto Alan
Diniz, Denise Sisterolli
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Resumo
Background: Neuromyelitis optica (NMO) is considered relatively more common in non-Whites, whereas multiple sclerosis (MS) presents a high prevalence rate, particularly in Whites from Western countries populations. However, no study has used ancestry informative markers (AIMs) to estimate the genetic ancestry contribution to NMO patients. Methods: Twelve AIMs were selected based on the large allele frequency differences among European, African, and Amerindian populations, in order to investigate the genetic contribution of each ancestral group in 236 patients with MS and NMO, diagnosed using the McDonald and Wingerchuck criteria, respectively. All 128 MS patients were recruited at the Faculty of Medicine of Ribeirão Preto (MS-RP), Southeastern Brazil, as well as 108 healthy bone marrow donors considered as healthy controls. A total of 108 NMO patients were recruited from five Neurology centers from different Brazilian regions, including Ribeirão Preto (NMO-RP). Principal Findings: European ancestry contribution was higher in MS-RP than in NMO-RP (78.5% vs. 68.7%) patients. In contrast, African ancestry estimates were higher in NMO-RP than in MS-RP (20.5% vs. 12.5%) patients. Moreover, principal component analyses showed that groups of NMO patients from different Brazilian regions were clustered close to the European ancestral population. Conclusions: Our findings demonstrate that European genetic contribution predominates in NMO and MS patients from Brazil. © 2013 Brum et al.
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adult, African American, American Indian, ancestry informative marker, bone marrow, Brazil, controlled study, European American, female, gene frequency, gene insertion, genealogy, genotype, geographic distribution, high risk population, human, human tissue, indel mutation, major clinical study, male, multiple sclerosis, myelooptic neuropathy, plesiomorphy, population genetic parameters, single nucleotide polymorphism
Como citar
PLoS ONE, v. 8, n. 3, 2013.