| Literature DB >> 25367361 |
Carolinne Sales-Marques1, Heloisa Salomão, Vinicius Medeiros Fava, Lucia Elena Alvarado-Arnez, Evaldo Pinheiro Amaral, Cynthia Chester Cardoso, Ida Maria Foschiani Dias-Batista, Weber Laurentino da Silva, Priscila Medeiros, Marcos da Cunha Lopes Virmond, Francisco Carlos Félix Lana, Antonio Guilherme Pacheco, Milton Ozório Moraes, Marcelo Távora Mira, Ana Carla Pereira Latini.
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.Entities:
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Year: 2014 PMID： 25367361 DOI： 10.1007/s00439-014-1502-9
Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132