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Lindner et al. Genetic loci that determine proximal hip/femur shape linked with hip OA

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DOI:10.1038/bonekey.2016.15

Lindner et al. investigated genetic loci that are thought to confer susceptibility to osteoarthritis, or that are associated with hip morphology, to find out if they also correlate with proximal femur shape as represented by a statistical shape model (SSM). An SSM describes the shape of an object by linear combination of a number of shape modes, and therefore creates multivariate quantitative traits.

Here, phenotypes obtained from pelvic radiographs and 41 selected candidate genotypes underwent an association study in 929 subjects with unilateral hip OA, who were previously recruited for the Arthritis Research UK Osteoarthritis Genetics Consortium GWAS.

Three associations were identified. The first, between the single nucleotide polymorphism (SNP) rs4836732 in ASTN2, a gene encoding the neuronal protein astrotactin, known to be involved in glial-guided migration in development of the central nervous system. The second, between rs6976 in the GLT8D1 gene that encodes a member of the glycosyltransferase family and the third, between rs5009270 and a locus near to the IFRD1 gene, which codes for interferon-related developmental regulator 1.

Editor’s comment: The authors suggest that loci that help to determine proximal femur/hip joint shape may also contribute to hip OA susceptibility and vice versa. To note, previously reported SSM-based genotype–phenotype associations with SNPs in the DIO2 and FRZB regions were not replicated, probably due to modest sample size (n=929).

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