Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis

Nat Genet. 2017 May;49(5):801-805. doi: 10.1038/ng.3816. Epub 2017 Mar 20.

Abstract

We performed a genome-wide association study of total hip replacements, based on variants identified through whole-genome sequencing, which included 4,657 Icelandic patients and 207,514 population controls. We discovered two rare signals that strongly associate with osteoarthritis total hip replacement: a missense variant, c.1141G>C (p.Asp369His), in the COMP gene (allelic frequency = 0.026%, P = 4.0 × 10-12, odds ratio (OR) = 16.7) and a frameshift mutation, rs532464664 (p.Val330Glyfs*106), in the CHADL gene that associates through a recessive mode of inheritance (homozygote frequency = 0.15%, P = 4.5 × 10-18, OR = 7.71). On average, c.1141G>C heterozygotes and individuals homozygous for rs532464664 had their hip replacement operation 13.5 years and 4.9 years earlier than others (P = 0.0020 and P = 0.0026), respectively. We show that the full-length CHADL transcript is expressed in cartilage. Furthermore, the premature stop codon introduced by the CHADL frameshift mutation results in nonsense-mediated decay of the mutant transcripts.

MeSH terms

  • Arthroplasty, Replacement, Hip
  • Cartilage Oligomeric Matrix Protein / genetics*
  • Cells, Cultured
  • Codon, Nonsense
  • Extracellular Matrix Proteins / genetics*
  • Frameshift Mutation
  • Gene Expression
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics*
  • Genome, Human / genetics*
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • Iceland
  • Kaplan-Meier Estimate
  • Mutation, Missense
  • Osteoarthritis, Hip / genetics*
  • Osteoarthritis, Hip / surgery
  • Polymorphism, Single Nucleotide
  • Reverse Transcriptase Polymerase Chain Reaction
  • Risk Factors
  • Sequence Analysis, DNA / methods*

Substances

  • CHADL protein, human
  • COMP protein, human
  • Cartilage Oligomeric Matrix Protein
  • Codon, Nonsense
  • Extracellular Matrix Proteins