NOD2 and CCDC122-LACC1 genes are associated with leprosy susceptibility in Brazilians
s.l; s.n; 2014. 8 p. tab.
Não convencional
em Inglês
| SES-SP, HANSEN, HANSENIASE, SESSP-ILSLPROD, SES-SP, SESSP-ILSLACERVO, SES-SP
| ID: biblio-1095885
Biblioteca responsável:
BR191.1
Localização: BR191.1; 9580/S
ABSTRACT
Leprosy is a complex disease with phenotypes strongly influenced by genetic variation. A Chinese genome-wide association study (GWAS) depicted novel genes and pathways associated with leprosy susceptibility, only partially replicated by independent studies in different ethnicities. Here, we describe the results of a validation and replication study of the Chinese GWAS in Brazilians, using a stepwise strategy that involved two family-based and three independent case-control samples, resulting in 3,614 individuals enrolled. First, we genotyped a family-based sample for 36 tag single-nucleotide polymorphisms (SNPs) of five genes located in four different candidate loci CCDC122-LACC1, NOD2, TNFSF15 and RIPK2. Association between leprosy and tag SNPs at NOD2 (rs8057431) and CCDC122-LACC1 (rs4942254) was then replicated in three additional, independent samples (combined OR(AA) = 0.49, P = 1.39e-06; OR(CC) = 0.72, P = 0.003, respectively). These results clearly implicate the NOD2 pathway in the regulation of leprosy susceptibility across diverse populations.
Texto completo:
Disponível
Tema:
Complicações
/
Geral
/
Transmissão
Bases de dados:
HANSEN
/
HANSENIASE
/
Sec. Est. Saúde SP
Assunto principal:
Brasil
/
Desequilíbrio de Ligação
/
Predisposição Genética para Doença
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Polimorfismo de Nucleotídeo Único
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Proteína Adaptadora de Sinalização NOD2
/
Estudos de Associação Genética
/
Frequência do Gene
/
Hanseníase
Tipo de estudo:
Fatores de risco
País/Região como assunto:
America do sul
/
Brasil
Idioma:
Inglês
Ano de publicação:
2014
Tipo de documento:
Não convencional
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