A genome wide association study identifies a lncRna as risk factor for pathological inflammatory responses in leprosy
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2017
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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 associ ations 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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FAVA, Vinicius M. A genome wide association study identifies a IncRNA as risk factor for pathological inflammatory responses in leprosy. Plos Genetics, San Francisco, v. 13, n. 2, e1006637, 2017. DOI: 10.1371/journal.pgen.1006637. Disponível em: https://pmc.ncbi.nlm.nih.gov/articles/PMC5340414/. Acesso em: 12 fev. 2025.