ArticleArthritis research & therapy2011
Association of the D repeat polymorphism in the ASPN gene with developmental dysplasia of the hip: a case-control study in Han Chinese.
Article in Arthritis research & therapy, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
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Who cites it
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 83 citations in OpenAlex.
- Hip ontogenesis: how evolution, genes, and load history shape hip morphotype and cartilotype.Clinical orthopaedics and related research · 2012Pooled it
- Functional polymorphisms in asporin and CILP together with joint loading predispose to hand osteoarthritis.BMC genetics · 2017Trial
- Transcriptomic analysis reveals the impact of concurrent, resistance, and endurance training on skeletal muscle.PloS one · 2026Article
- Genetic Analysis of Familial Developmental Dysplasia of the Hip Associated With a Heterozygous Variant in the COMP Gene: A Case Report.Molecular genetics & genomic medicine · 2025Article
- Genetics of morphological hip abnormalities and their implications for osteoarthritis: a scoping review.Journal of hip preservation surgery · 2025Review
- Preliminary identification of somatic mutations profile in ACL injury.Scientific reports · 2024Article
- ASPORIN: A root of the matter in tumors and their host environment.Biochimica et biophysica acta. Reviews on cancer · 2024Review
- Molecular mechanisms and genetic factors contributing to the developmental dysplasia of the hip.Frontiers in genetics · 2024Review
- Deciphering the pathogenic role of rareFrontiers in genetics · 2024Article
- ASPN Synergizes with HAPLN1 to Inhibit the Osteogenic Differentiation of Bone Marrow Mesenchymal Stromal Cells and Extracellular Matrix Mineralization of Osteoblasts.Orthopaedic surgery · 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
- Comprehensive bioinformatics analysis of susceptibility genes for developmental dysplasia of the hip.Intractable & rare diseases research · 2022Article
- Integrative Analysis of MicroRNA and mRNA Sequencing Data Identifies Novel Candidate Genes and Pathways for Developmental Dysplasia of Hip.Cartilage · 2021Article
- The Genetic Epidemiology of Joint Shape and the Development of Osteoarthritis.Calcified tissue international · 2021Review
- Observational
- Reciprocal interplay between asporin and decorin: Implications in gastric cancer prognosis.PloS one · 2021Article
- There is No Link Between Birth Weight and Developmental Dysplasia of the Hip.Indian journal of orthopaedics · 2020Article
- Current knowledge on the genetic background of developmental dysplasia of the hip and the histomorphological status of the cartilage.Croatian medical journal · 2020Review
- Genetic variant ofAging · 2020Article
- Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects.Medicina (Kaunas, Lithuania) · 2020Review
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Authors and funding
13 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionDevelopmental dysplasia of the hip (DDH) is a common skeletal disease, which is characterized by abnormal seating of the femoral head in the acetabulum. Genetic factors play a considerable role in the etiology of DDH. Asporin (ASPN) is an ECM protein which can bind to TGF-β1 and sequentially inhibit TGF-β/Smad signaling. A functional aspartic acid (D) repeat polymorphism of ASPN was first described as an osteoarthritis-associated polymorphism. As TGF-β is well known as an important regulator in the development of skeletal components, ASPN may also be involved in the etiology of DDH. Our objective is to evaluate whether the D repeat polymorphism of ASPN is associated with DDH in Han Chinese.
methodsThe D repeat polymorphism was genotyped in 370 DDH patients and 445 control subjects, and the allelic association of the D repeat was examined.
resultsFrom D11 to D18, eight alleles were identified. D13 allele is the most common allele both in control and DDH groups, the frequencies are 67.3% and 58.1% respectively. In the DDH group, a significantly higher frequency of the D14 allele and significantly lower frequency of D13 was observed. The association of D14 and D13 was found in both females and males after stratification by gender. There was no significant difference in any other alleles we examined.
conclusionsOur results show an obvious association between the D repeat polymorphism of ASPN and DDH. It indicates that ASPN is an important regulator in the etiology of DDH.
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