NOD2 and CCDC122-LACC1 genes are associated with leprosy susceptibility in Brazilians - PubMed (original) (raw)

. 2014 Dec;133(12):1525-32.

doi: 10.1007/s00439-014-1502-9. Epub 2014 Nov 4.

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

Affiliations

• PMID: 25367361
• DOI: 10.1007/s00439-014-1502-9

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

Carolinne Sales-Marques et al. Hum Genet. 2014 Dec.

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.

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