Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects
As one of the most frequent skeletal anomalies, developmental dysplasia of the hip (DDH) is characterized by a considerable range of pathology, from minor laxity of ligaments in the hip joint to complete luxation. Multifactorial etiology, of which the candidate genes have been studied the most, pose...
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| Format: | Article |
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MDPI AG
2020-03-01
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| Series: | Medicina |
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| Online Access: | https://www.mdpi.com/1010-660X/56/4/153 |
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| author | Stefan Harsanyi Radoslav Zamborsky Lubica Krajciova Milan Kokavec Lubos Danisovic |
| author_facet | Stefan Harsanyi Radoslav Zamborsky Lubica Krajciova Milan Kokavec Lubos Danisovic |
| author_sort | Stefan Harsanyi |
| collection | DOAJ |
| description | As one of the most frequent skeletal anomalies, developmental dysplasia of the hip (DDH) is characterized by a considerable range of pathology, from minor laxity of ligaments in the hip joint to complete luxation. Multifactorial etiology, of which the candidate genes have been studied the most, poses a challenge in understanding this disorder. Candidate gene association studies (CGASs) along with genome-wide association studies (GWASs) and genome-wide linkage analyses (GWLAs) have found numerous genes and loci with susceptible DDH association. Studies put major importance on candidate genes associated with the formation of connective tissue (COL1A1), osteogenesis (PAPPA2, GDF5), chondrogenesis (UQCC1, ASPN) and cell growth, proliferation and differentiation (TGFB1). Recent studies show that epigenetic factors, such as DNA methylation affect gene expression and therefore could play an important role in DDH pathogenesis. This paper reviews all existing risk factors affecting DDH incidence, along with candidate genes associated with genetic or epigenetic etiology of DDH in various studies. |
| first_indexed | 2024-03-12T06:03:53Z |
| format | Article |
| id | doaj.art-890323504fcd4f85952c68d6da854ef1 |
| institution | Directory Open Access Journal |
| issn | 1010-660X |
| language | English |
| last_indexed | 2024-03-12T06:03:53Z |
| publishDate | 2020-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Medicina |
| spelling | doaj.art-890323504fcd4f85952c68d6da854ef12023-09-03T03:50:40ZengMDPI AGMedicina1010-660X2020-03-015615315310.3390/medicina56040153Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic AspectsStefan Harsanyi0Radoslav Zamborsky1Lubica Krajciova2Milan Kokavec3Lubos Danisovic4Faculty of Medicine, Institute of Medical Biology, Genetics and Clinical Genetics, Comenius University in Bratislava, 811-08 Bratislava, SlovakiaDepartment of Orthopedics, Faculty of Medicine, Comenius University and National Institute of Children’s Diseases, 833-40 Bratislava, SlovakiaFaculty of Medicine, Institute of Medical Biology, Genetics and Clinical Genetics, Comenius University in Bratislava, 811-08 Bratislava, SlovakiaDepartment of Orthopedics, Faculty of Medicine, Comenius University and National Institute of Children’s Diseases, 833-40 Bratislava, SlovakiaFaculty of Medicine, Institute of Medical Biology, Genetics and Clinical Genetics, Comenius University in Bratislava, 811-08 Bratislava, SlovakiaAs one of the most frequent skeletal anomalies, developmental dysplasia of the hip (DDH) is characterized by a considerable range of pathology, from minor laxity of ligaments in the hip joint to complete luxation. Multifactorial etiology, of which the candidate genes have been studied the most, poses a challenge in understanding this disorder. Candidate gene association studies (CGASs) along with genome-wide association studies (GWASs) and genome-wide linkage analyses (GWLAs) have found numerous genes and loci with susceptible DDH association. Studies put major importance on candidate genes associated with the formation of connective tissue (COL1A1), osteogenesis (PAPPA2, GDF5), chondrogenesis (UQCC1, ASPN) and cell growth, proliferation and differentiation (TGFB1). Recent studies show that epigenetic factors, such as DNA methylation affect gene expression and therefore could play an important role in DDH pathogenesis. This paper reviews all existing risk factors affecting DDH incidence, along with candidate genes associated with genetic or epigenetic etiology of DDH in various studies.https://www.mdpi.com/1010-660X/56/4/153developmental dysplasia of the hipDDHgeneticsepigeneticsrisk factor |
| spellingShingle | Stefan Harsanyi Radoslav Zamborsky Lubica Krajciova Milan Kokavec Lubos Danisovic Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects Medicina developmental dysplasia of the hip DDH genetics epigenetics risk factor |
| title | Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects |
| title_full | Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects |
| title_fullStr | Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects |
| title_full_unstemmed | Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects |
| title_short | Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects |
| title_sort | developmental dysplasia of the hip a review of etiopathogenesis risk factors and genetic aspects |
| topic | developmental dysplasia of the hip DDH genetics epigenetics risk factor |
| url | https://www.mdpi.com/1010-660X/56/4/153 |
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