A genome-wide association study has identified genetic variants that are strongly associated with total hip replacement (THR) in patients with osteoarthritis. Whole-genome sequencing of Icelandic patients with osteoarthritis who had undergone THR (n = 4,657) and population controls (n = 207,514) revealed a rare missense variant in COMP and a recessive frameshift mutation in CHADL. When undergoing THR, patients homozygous for either the COMP or CHADL variants were on average 13.5 years and 4.9 years younger, respectively, than heterozygous individuals and non-carriers.
References
Styrkarsdottir, U. et al. Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis. Nat. Genet. http://dx.doi.org/10.1038/ng.3816 (2017)
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McHugh, J. Rare genotypes associated with hip replacement. Nat Rev Rheumatol 13, 322 (2017). https://doi.org/10.1038/nrrheum.2017.67
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DOI: https://doi.org/10.1038/nrrheum.2017.67
