Prioritizing disease and trait causal variants at the TNFAIP3 locus using functional and genomic features

Nat Commun. 2020 Mar 6;11(1):1237. doi: 10.1038/s41467-020-15022-4.

Abstract

Genome-wide association studies have associated thousands of genetic variants with complex traits and diseases, but pinpointing the causal variant(s) among those in tight linkage disequilibrium with each associated variant remains a major challenge. Here, we use seven experimental assays to characterize all common variants at the multiple disease-associated TNFAIP3 locus in five disease-relevant immune cell lines, based on a set of features related to regulatory potential. Trait/disease-associated variants are enriched among SNPs prioritized based on either: (1) residing within CRISPRi-sensitive regulatory regions, or (2) localizing in a chromatin accessible region while displaying allele-specific reporter activity. Of the 15 trait/disease-associated haplotypes at TNFAIP3, 9 have at least one variant meeting one or both of these criteria, 5 of which are further supported by genetic fine-mapping. Our work provides a comprehensive strategy to characterize genetic variation at important disease-associated loci, and aids in the effort to identify trait causal genetic variants.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autoimmune Diseases / genetics*
  • Cell Line, Tumor
  • Genetic Loci / genetics*
  • Genetic Predisposition to Disease
  • Genetic Variation / immunology
  • Genome-Wide Association Study / methods*
  • Haplotypes / genetics
  • Haplotypes / immunology
  • Humans
  • Linkage Disequilibrium
  • Multifactorial Inheritance / genetics*
  • Multifactorial Inheritance / immunology
  • Proof of Concept Study
  • Tumor Necrosis Factor alpha-Induced Protein 3 / genetics*

Substances

  • TNFAIP3 protein, human
  • Tumor Necrosis Factor alpha-Induced Protein 3