Genome-wide association study of Buruli ulcer in rural Benin highlights role of two LncRNAs and the autophagy pathway

Commun Biol. 2020 Apr 20;3(1):177. doi: 10.1038/s42003-020-0920-6.

Abstract

Buruli ulcer, caused by Mycobacterium ulcerans and characterized by devastating necrotizing skin lesions, is the third mycobacterial disease worldwide. The role of host genetics in susceptibility to Buruli ulcer has long been suggested. We conduct the first genome-wide association study of Buruli ulcer on a sample of 1524 well characterized patients and controls from rural Benin. Two-stage analyses identify two variants located within LncRNA genes: rs9814705 in ENSG00000240095.1 (P = 2.85 × 10-7; odds ratio = 1.80 [1.43-2.27]), and rs76647377 in LINC01622 (P = 9.85 × 10-8; hazard ratio = 0.41 [0.28-0.60]). Furthermore, we replicate the protective effect of allele G of a missense variant located in ATG16L1, previously shown to decrease bacterial autophagy (rs2241880, P = 0.003; odds ratio = 0.31 [0.14-0.68]). Our results suggest LncRNAs and the autophagy pathway as critical factors in the development of Buruli ulcer.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Autophagy / genetics*
  • Autophagy-Related Proteins / genetics*
  • Benin
  • Buruli Ulcer / diagnosis
  • Buruli Ulcer / genetics*
  • Buruli Ulcer / microbiology
  • Case-Control Studies
  • Child
  • Female
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Host-Pathogen Interactions
  • Humans
  • Male
  • Mutation, Missense*
  • Mycobacterium ulcerans / pathogenicity*
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • RNA, Long Noncoding / genetics*
  • Risk Assessment
  • Risk Factors
  • Young Adult

Substances

  • ATG16L1 protein, human
  • Autophagy-Related Proteins
  • RNA, Long Noncoding

Associated data

  • figshare/10.6084/m9.figshare.11941344