A large-scale genome-wide association and meta-analysis identified four novel susceptibility loci for leprosy

Abstract

Leprosy, a chronic infectious disease, results from the uncultivable pathogen Mycobacterium leprae ( M. leprae), and usually progresses to peripheral neuropathy and permanent progressive deformity if not treated. Previously published genetic studies have identified 18 gene/loci significantly associated with leprosy at the genome-wide significant level. However as a complex disease, only a small proportion of leprosy risk could be explained by those gene/loci. To further identify more susceptibility gene/loci, we hereby performed a three-stage GWAS comprising 8,156 leprosy patients and 15,610 controls of Chinese ancestry. Four novel loci were identified including rs6807915 on 3p25.2 ( P=1.94 × 10 ⁻⁸, OR=0.89), rs4720118 on 7p14.3 ( P=3.85 × 10 ⁻¹⁰, OR=1.16), rs55894533 on 8p23.1 ( P=5.07 × 10 ⁻¹¹, OR=1.15) and rs10100465 on 8q24.11 ( P=2.85 × 10 ⁻¹¹, OR=0.85). Altogether, these findings have provided new insight and significantly expanded our understanding of the genetic basis of leprosy.

Abstract

Previous studies have shown genetic associations between leprosy and 18 different genes/loci. Here, Wang and colleagues perform genome-wide association study in Han Chinese leprosy patients and describe four novel loci to be associated to the disease.