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• W2313279714 abstract "Purpose: One of the major risk factors for (early) hip OA is acetabular dysplasia. Acetabular dysplasia is for a large part thought to be caused by genetic variance. However, research into the genetics of hip morphology is scarce. We aimed at identifying genes involved in the development of hip dysplasia, in order to gain novel insights into the pathogenesis of hip OA. Methods: Baseline radiographs of cohort RS1-RS3 of the Rotterdam Study (RS) were evaluated. To determine the presence of acetabular dysplasia, a set of 23 points was positioned on anatomical landmarks along the contour of the femur and acetabulum on the anteroposterior radiographs of the hip using statistical shape modeling (SSM) software. The existence of acetabular dysplasia was measured with the center edge (CE) angle, which was calculated using a number of landmarks from the hip-shape. A genome-wide association study was performed on the resulting data. To combine the results of the separate GWAS analyses of cohorts RS1, RS2 and RS3, a meta-analysis was done. In addition, we focused on 17 SNPs which had been associated with hip OA previously. Results: A comparison of CE-angle data measured by hand and (semi)automatically using statistical shape modeling (n=632) showed high concordance between the 2 measurements (ICC 0.83 (95% CI= 0.81–0.85)). A total number of 6157 individuals had data available on acetabular dysplasia and genetics. The genome-wide association study for Acetabular dysplasia showed 14 genetic loci with suggestive evidence for association (p<5*10-6). The two top hits were located near PCSK2 and ADAM33. We subsequently examined 17 previously identified genetic loci associated with hip OA. We observed that SNPs near RUNX2, ASTN2, FGF3 and COL11A1 were significantly associated to acetabular dysplasia. The most significant SNP was residing in COL11A1 ((p=2*10-5), of which the previously identified risk allele hip OA was associated to a lower CE-angle indicative for more severe acetabular dysplasia. Interestingly, stratification according to age showed that the effect of the COL11A1-SNP was only present in relatively young individuals (age 65 or younger). Conclusions: Our study indicates that the CE-angle is highly suitable for genetic studies, given the fact that it can be reliably measured in large populations and of its continuous nature, which increases power to identify genetic associations. We here show results of the first genome-wide association study on hip dysplasia. We identified several interesting candidate genes, which are currently being studied further. In addition, we identified a DNA variant in COL11A1 to be associated with acetabular dysplasia, which explains the association with hip OA. Interestingly, the association between the COL11A1 variant and hip dysplasia was driven by young individuals." @default.
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• W2313279714 date "2016-04-01" @default.
• W2313279714 modified "2023-09-27" @default.
• W2313279714 title "Genetic determinants of mild acetabular dysplasia" @default.
• W2313279714 doi "https://doi.org/10.1016/j.joca.2016.01.438" @default.
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