NOD2 and CCDC122-LACC1 genes are associated with leprosy susceptibility in Brazilians.

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TitleNOD2 and CCDC122-LACC1 genes are associated with leprosy susceptibility in Brazilians.
Publication TypeJournal Article
AuthorsSales-Marques C, Salomão H, Fava VM, Alvarado-Arnez LE, Amaral EP, Cardoso CC, Dias-Batista IMF, da Silva WL, Medeiros P, da Cunha Lopes Virmond M, Lana FCF, Pacheco AG, Moraes MO, Mira MT, Pereira Latini AC
Abbrev. JournalHum. Genet.
JournalHuman genetics
Year of Publication2014
Publication Languageeng
KeywordsBrazil, Genetic aspects, Leprosy, Nod2 Signaling Adaptor Protein

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 ORAA = 0.49, P = 1.39e-06; ORCC = 0.72, P = 0.003, respectively). These results clearly implicate the NOD2 pathway in the regulation of leprosy susceptibility across diverse populations.

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