Primary Osteoarthritis of the Hip: A Genetic Disease Caused by European Genetic Variants

ArticleinThe Journal of Bone and Joint Surgery 95(5):463-8 · March 2013with7 Reads
DOI: 10.2106/JBJS.L.00077 · Source: PubMed
➤ Primary osteoarthritis of the hip is a separate phenotype that occurs at a rate of 3% to 6% in the populations of the world with European ancestry.➤ In all non-European populations, there is a consistent rarity of primary osteoarthritis that suggests a different etiology for these few patients.➤ Family, sibling, and twin studies prove primary osteoarthritis to be a genetic disease with a 50% heritability caused by European genetic variants.➤ The genetic basis is reinforced by the lower rate of primary osteoarthritis in American minorities consistent with their degree of European gene admixture.➤ Whether the mechanism of degeneration of primary osteoarthritis may be secondary through a morphologic deformity, such as femoroacetabular impingement, remains unknown.➤ The virtual absence of the disease in non-Europeans indicates that the European gene component is necessary for the expression of this separate phenotype of osteoarthritis.
    • "Additionally, these methods allow the identification of extended high-risk pedigrees with a statistical excess of disease; these pedigrees provide an informative resource for osteoarthritis predisposition gene identification. Our study used a Utah-based population database of N 1.3 million patients with at least 3 generations of complete ancestral genealogy data (including at least 12 of 14 immediate ancestors) to solidify the earlier suggestions of a genetic predisposition for hip osteoarthritis/THA provided by previous potentially underpowered twin, family and sibling studies and retrospective reviews345678910. The inclusion of only those individuals with procedure codes indicating that THA was performed focuses the application of the study to the individuals with presumed symptomatic hip disease and avoids the possibility of misclassification of osteoarthritis by using diagnosis codes only. "
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