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

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 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.

More information

Type
Journal Article
Author
Sales-Marques C
Salomão H
Fava VM
Alvarado-Arnez LE
Amaral EP
Cardoso CC
Dias-Batista IMF
Silva WL
Medeiros P
Cunha Lopes Virmond M
Lana FCF
Pacheco AG
Moraes MO
Mira MT
Pereira Latini AC
Year of Publication
2014
Journal
Human genetics
Volume
133
Issue
12
Number of Pages
1525-32
Language
eng
ISSN Number
1432-1203
DOI
10.1007/s00439-014-1502-9
Alternate Journal
Hum. Genet.
Publication Language
eng