Genetics of hip dysplasia - a systematic literature review
Jacobsen, Kaya Kvarme; Laborie, Lene Bjerke; Kristiansen, Hege; Schäfer, Annette; Gundersen, Trude; Zayats, Tetyana; Rosendahl, Karen
Journal article, Peer reviewed
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Date
2024Metadata
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Abstract
Background
Developmental dysplasia of the hip (DDH) is a congenital condition affecting 2–3% of all newborns. DDH increases the risk of osteoarthritis and is the cause of 30% of all total hip arthroplasties in adults < 40 years of age. We aim to explore the genetic background of DDH in order to improve diagnosis and personalize treatment.
Methods
We conducted a structured literature review using PRISMA guidelines searching the Medline, Embase and Cochrane databases. We included 31 case control studies examining single nucleotide polymorphisms (SNPs) in non-syndromic DDH.
Results
A total of 73 papers were included for full text review, of which 31 were single nucleotide polymorphism (SNP) case/control association studies. The literature review revealed that the majority of published papers on the genetics of DDH were mostly underpowered for detection of any significant association. One large genome wide association study has been published (N = 9,915), establishing GDF5 as a plausible risk factor.
Conclusions
DDH is known to be congenital and heritable, with family occurrence of DDH already included as a risk factor in most screening programs. Despite this, high quality genetic research is scarce and no genetic risk factors have been soundly established, prompting the need for more research.