@article{25554,
  keywords = {leprosy, Genetic aspects, Nod2 Signaling Adaptor Protein, Brazil},
  author = {Sales-Marques C and Salomão H and Fava VM and Alvarado-Arnez LE and Amaral EP and Cardoso C and Dias-Batista IMF and Silva WL and Medeiros P and Cunha Lopes Virmond M and Lana FCF and Pacheco A and Moraes M and Mira M and Latini A},
  title = {NOD2 and CCDC122-LACC1 genes are associated with leprosy susceptibility in Brazilians.},
  abstract = {<p>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.</p>},
  year = {2014},
  journal = {Human genetics},
  volume = {133},
  pages = {1525-32},
  issn = {1432-1203},
  doi = {10.1007/s00439-014-1502-9},
  language = {eng},
}