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.
Palavras-chave
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