NOD2 and CCDC122-LACC1 genes are associated with leprosy susceptibility in Brazilians.
Hum Genet
; 133(12): 1525-32, 2014 Dec.
Article
em En
| MEDLINE
| ID: mdl-25367361
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:
1
Base de dados:
MEDLINE
Assunto principal:
Proteína Adaptadora de Sinalização NOD2
/
Hanseníase
Tipo de estudo:
Risk_factors_studies
Limite:
Adolescent
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Adult
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Aged
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Child
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Female
/
Humans
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Male
/
Middle aged
País/Região como assunto:
America do sul
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Brasil
Idioma:
En
Revista:
Hum Genet
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
Brasil