ArticleAmerican journal of human genetics2006
Familial osteoarthritis of the hip joint associated with acetabular dysplasia maps to chromosome 13q.
Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 66 citations in OpenAlex.
- Genome-Wide Association Study and Transcriptome of Japanese Patients with Developmental Dysplasia of the Hip Demonstrates an Association with the Ferroptosis Signaling Pathway.International journal of molecular sciences · 2023Article
- Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.Molecular genetics and genomics : MGG · 2023Article
- Establishment of pediatric developmental dysplasia of the hip biobank: Shanghai children's hospital experience.Cell and tissue banking · 2022Article
- The Genetic Epidemiology of Joint Shape and the Development of Osteoarthritis.Calcified tissue international · 2021Review
- Current knowledge on the genetic background of developmental dysplasia of the hip and the histomorphological status of the cartilage.Croatian medical journal · 2020Review
- Computer-Aided System Application Value for Assessing Hip Development.Frontiers in physiology · 2020Article
- Developmental Dysplasia of Hip: Perspectives in Genetic Screening.Medical sciences (Basel, Switzerland) · 2019Review
- Association analysis between four vitamin D receptor gene polymorphisms and developmental dysplasia of the hip.Journal of genetics · 2018Article
- CORR Insights®: The 2018 Nicholas Andry Award: The Evidence Base for the Treatment of Developmental Dysplasia of the Hip: The Iowa Contribution.Clinical orthopaedics and related research · 2018Article
- Genome-wide association study of developmental dysplasia of the hip identifies an association withCommunications biology · 2018Article
- Genetic association study of common variants in TGFB1 and IL-6 with developmental dysplasia of the hip in Han Chinese population.Scientific reports · 2017Article
- Copy number loss in the region of theBone & joint research · 2017Article
- A recurrent mutation in bone morphogenetic proteins-2-inducible kinase gene is associated with developmental dysplasia of the hip.Experimental and therapeutic medicine · 2017Article
- Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip.BMC medical genetics · 2017Article
- Bilateral Staged Total Hip Replacement and the Natural Progress of an Untreated Case of Developmental Dysplasia (Dislocation) of the Hip: A Clinical Case Report by the Surgeon and the Patient.Iranian journal of medical sciences · 2015Article
- Possible association of single nucleotide polymorphisms in the 3' untranslated region of HOXB9 with acetabular overcoverage.Bone & joint research · 2015Article
- Etiology of osteoarthritis: genetics and synovial joint development.Nature reviews. Rheumatology · 2012Review
- Association of the D repeat polymorphism in the ASPN gene with developmental dysplasia of the hip: a case-control study in Han Chinese.Arthritis research & therapy · 2011Article
- The Otto Aufranc Award: Identification of a 4 Mb region on chromosome 17q21 linked to developmental dysplasia of the hip in one 18-member, multigeneration family.Clinical orthopaedics and related research · 2010Article
- The long (and winding) road to gene discovery for canine hip dysplasia.Veterinary journal (London, England : 1997) · 2009Review
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Authors and funding
4 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic factors have been implicated in osteoarthritis (OA), particularly in OA of the hip joint (hip OA). Several instances of familial hip OA that show distinctive modes of inheritance but that differ from chondrodysplasia have been reported. Here, we report the characterization of a large Japanese family with an inherited disease of the hip that is indistinguishable from common hip OA, as evidenced by clinical symptoms and radiographs of the joint. This family contained eight patients in 4 generations. Affected individuals develop pain in the hip joint during adolescence, and the disease progresses to severe crippling before age 60 years. Patients generally are in good health, height is not reduced, and there is no extraskeletal involvement suggestive of chondrodysplasia. The skeletal change is bilateral acetabular dysplasia followed by OA, which occurs after age approximately 40 years and is indistinguishable from idiopathic nonfamilial dysplastic hip OA. This trait shows autosomal dominant inheritance, with a considerably consistent phenotype. Genomewide screening revealed linkage at chromosome 13q22, and haplotype analysis narrowed the locus to a 6.0-cM interval between markers D13S1296 and D13S162, with a maximal multipoint LOD score of 3.57. The family described here represents a novel genetic entity as a monogenic form of hip OA. Its further characterization can aid in elucidating the etiology and pathogenesis of a common idiopathic form of OA.
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