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Genetics of hip dysplasia - a systematic literature review
Kaya Kvarme Jacobsen1,2, Lene Bjerke Laborie3,4, Hege Kristiansen5,6
1Department of Clinical Medicine, University of Bergen, Bergen, Norway. kaya.kvarme.jacobsen@gmail.com.
Insights
Developmental dysplasia of the hip (DDH) is a common congenital condition. Current genetic research is limited, with few established risk factors, highlighting the need for further investigation into DDH genetics.
Area of Science:
- Orthopedics
- Genetics
- Pediatrics
Background:
- Developmental dysplasia of the hip (DDH) affects 2-3% of newborns.
- DDH is a leading cause of osteoarthritis and hip replacements in young adults.
- Understanding DDH genetics is crucial for early diagnosis and personalized treatment.
Purpose of the Study:
- To explore the genetic underpinnings of developmental dysplasia of the hip.
- To identify potential genetic risk factors for DDH.
- To inform improved diagnostic and treatment strategies for DDH.
Main Methods:
- A structured literature review following PRISMA guidelines.
- Searched Medline, Embase, and Cochrane databases.
- Included 31 case-control studies on single nucleotide polymorphisms (SNPs) in non-syndromic DDH.
Main Results:
- Most published studies on DDH genetics are underpowered.
- One large genome-wide association study identified GDF5 as a potential risk factor.
- Limited high-quality genetic research exists for DDH.
Conclusions:
- DDH is a congenital and heritable condition.
- Despite heritability, robust genetic risk factors for DDH remain unestablished.
- Further high-quality genetic research is essential for advancing DDH understanding and management.
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.
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