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http://purl.uniprot.org/citations/25367361http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/25367361http://www.w3.org/2000/01/rdf-schema#comment"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."xsd:string
http://purl.uniprot.org/citations/25367361http://purl.org/dc/terms/identifier"doi:10.1007/s00439-014-1502-9"xsd:string
http://purl.uniprot.org/citations/25367361http://purl.uniprot.org/core/author"Cardoso C.C."xsd:string
http://purl.uniprot.org/citations/25367361http://purl.uniprot.org/core/author"Moraes M.O."xsd:string
http://purl.uniprot.org/citations/25367361http://purl.uniprot.org/core/author"Mira M.T."xsd:string
http://purl.uniprot.org/citations/25367361http://purl.uniprot.org/core/author"da Silva W.L."xsd:string
http://purl.uniprot.org/citations/25367361http://purl.uniprot.org/core/author"Medeiros P."xsd:string
http://purl.uniprot.org/citations/25367361http://purl.uniprot.org/core/author"Pacheco A.G."xsd:string
http://purl.uniprot.org/citations/25367361http://purl.uniprot.org/core/author"Fava V.M."xsd:string
http://purl.uniprot.org/citations/25367361http://purl.uniprot.org/core/author"Amaral E.P."xsd:string
http://purl.uniprot.org/citations/25367361http://purl.uniprot.org/core/author"Dias-Batista I.M."xsd:string
http://purl.uniprot.org/citations/25367361http://purl.uniprot.org/core/author"Lana F.C."xsd:string
http://purl.uniprot.org/citations/25367361http://purl.uniprot.org/core/author"Alvarado-Arnez L.E."xsd:string
http://purl.uniprot.org/citations/25367361http://purl.uniprot.org/core/author"Pereira Latini A.C."xsd:string
http://purl.uniprot.org/citations/25367361http://purl.uniprot.org/core/author"Sales-Marques C."xsd:string
http://purl.uniprot.org/citations/25367361http://purl.uniprot.org/core/author"Salomao H."xsd:string
http://purl.uniprot.org/citations/25367361http://purl.uniprot.org/core/author"da Cunha Lopes Virmond M."xsd:string
http://purl.uniprot.org/citations/25367361http://purl.uniprot.org/core/date"2014"xsd:gYear
http://purl.uniprot.org/citations/25367361http://purl.uniprot.org/core/name"Hum Genet"xsd:string
http://purl.uniprot.org/citations/25367361http://purl.uniprot.org/core/pages"1525-1532"xsd:string
http://purl.uniprot.org/citations/25367361http://purl.uniprot.org/core/title"NOD2 and CCDC122-LACC1 genes are associated with leprosy susceptibility in Brazilians."xsd:string
http://purl.uniprot.org/citations/25367361http://purl.uniprot.org/core/volume"133"xsd:string
http://purl.uniprot.org/citations/25367361http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/25367361
http://purl.uniprot.org/citations/25367361http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/25367361