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A genome wide association study identifies a IncRna as risk factor for pathological inflammatory responses in leprosy
s.l; s.n; 2017. 16 p. ilus, tab, graf.
Non-conventional em En | SES-SP, HANSEN, HANSENIASE, SESSP-ILSLPROD, SES-SP, SESSP-ILSLACERVO, SES-SP | ID: biblio-1087674
Biblioteca responsável: BR191.1
Localização: BR191.1; 9525/S
ABSTRACT
Leprosy Type-1 Reactions (T1Rs) are pathological inflammatory responses that afflict a sub-group of leprosy patients and result in peripheral nerve damage. Here, we employed a family-based GWAS in 221 families with 229 T1R-affect offspring with stepwise replication to identify risk factors for T1R. We discovered, replicated and validated T1R-specific associations with SNPs located in chromosome region 10p21.2. Combined analysis across the three independent samples resulted in strong evidence of association of rs1875147 with T1R (p = 4.5x10-8; OR = 1.54, 95% CI = 1.32-1.80). The T1R-risk locus was restricted to a lncRNA-encoding genomic interval with rs1875147 being an eQTL for the lncRNA. Since a genetic overlap between leprosy and inflammatory bowel disease (IBD) has been detected, we evaluated if the shared genetic control could be traced to the T1R endophenotype. Employing the results of a recent IBD GWAS meta-analysis we found that 10.6% of IBD SNPs available in our dataset shared a common risk-allele with T1R (p = 2.4x10-4). This finding points to a substantial overlap in the genetic control of clinically diverse inflammatory disorders.
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Texto completo: 1 Coleções: 06-national / BR Base de dados: HANSEN / HANSENIASE / SES-SP / SESSP-ILSLACERVO / SESSP-ILSLPROD Assunto principal: Estudo de Associação Genômica Ampla / Hanseníase Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Non-conventional
Texto completo: 1 Coleções: 06-national / BR Base de dados: HANSEN / HANSENIASE / SES-SP / SESSP-ILSLACERVO / SESSP-ILSLPROD Assunto principal: Estudo de Associação Genômica Ampla / Hanseníase Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Non-conventional