Dataset Information

DNA hypermethylation of GDF5 in developmental dysplasia of the hip (DDH).

ABSTRACT:

Introduction & objective

Developmental Dysplasia of the Hip (DDH) is one of the most common congenital skeletal anomalies. Body of evidence suggests that genetic variations in GDF5 are associated with susceptibility to DDH. DDH is a multifactorial disease and its etiology has not been entirely determined. Epigenetic changes such as DNA methylation could be linked to DDH. In this scheme, we hypothesized that changes in GDF5 DNA methylation could predispose a susceptible individual to DDH.

Methods

This study consisted of 45 DDH patients and 45 controls with healthy femoral neck cartilage, who underwent hemi-, or total arthroplasty for the femoral neck fracture. A cartilage sample of 1 cm in diameter and 1 mm in the thickness was obtained for DNA extraction. DNA was extracted and DNA methylation of GDF5 was evaluated by metabisulfite method.

Results

Methylation analysis showed that the promoter of GDF5 in cartilage samples from DDH patients was hypermethylated in comparison to healthy controls (p = .001).

Conclusion

Our study showed that the methylation status of the GDF5 in patients with DDH is dysregulated. This dysregulation indicates that adjustment in the methylation might modify the expression of this gene. Since this gene plays an essential role in cartilage and bone development, thus reducing its expression can contribute to the pathogenesis of DDH. Further studies are needed to elucidate the role of GDF5 in this disease.

SUBMITTER: Baghdadi T

PROVIDER: S-EPMC6732267 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature

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Publications

DNA hypermethylation of GDF5 in developmental dysplasia of the hip (DDH).

Baghdadi Taghi T Nejadhosseinian Mohammad M Shirkoohi Reza R Mostafavi Tabatabaee Reza R Tamehri Seyed S SS Saffari Mojtaba M Mortazavi S M Javad SMJ

Molecular genetics & genomic medicine 20190723 9

<h4>Introduction & objective</h4>Developmental Dysplasia of the Hip (DDH) is one of the most common congenital skeletal anomalies. Body of evidence suggests that genetic variations in GDF5 are associated with susceptibility to DDH. DDH is a multifactorial disease and its etiology has not been entirely determined. Epigenetic changes such as DNA methylation could be linked to DDH. In this scheme, we hypothesized that changes in GDF5 DNA methylation could predispose a susceptible individual to DDH. ...[more]

PMID: 31338995

Similar Datasets

Project description:INTRODUCTION:Developmental dysplasia of the hip (DDH) affects 4-6 per 1000 live births in developed countries. Effective treatment to realign the hip is necessary to avoid long-term morbidities and maximise functional outcome. Treatment options depend on patient age but typically involve hip bracing and/or reduction under general anaesthetic. Some centres also employ prereduction hip traction. Historical papers suggest traction reduces risk of avascular necrosis (AVN) femoral head and reduces requirement for open reduction. However, several studies including a large retrospective cohort study, dispute this. We propose to perform the first systematic review and meta-analysis to clarify the value of prereduction hip traction in the management of DDH in children under the age of 3 years by identifying whether it impacts on the rate of successful closed reduction (CR) and risk of AVN. METHODS AND ANALYSIS:We will search MEDLINE, EMBASE and the Cochrane Central Register of Controlled Trials to identify potentially relevant studies. Studies reporting on incidence of successful CR, AVN femoral head and complications associated with prereduction hip traction in children of less than 3 years with DDH will be eligible for inclusion. Only randomised controlled trials, prospective and retrospective case-control and comparative cohort studies will be included in quantitative review. There will be no study design restrictions for inclusion in qualitative review. Following study selection, full-text paper retrieval, data extraction and synthesis, studies will be assessed for risk of bias and heterogeneity. If the included studies are sufficiently homogeneous, then we will perform meta-analysis. A narrative synthesis of the systematic review's results will also be presented. ETHICS AND DISSEMINATION:Formal ethical approval is not required as primary patient data will not be collected. The systematic review's results will be disseminated through a peer-reviewed publication. TRIAL REGISTRATION NUMBER:CRD42017064254; Pre-results.

Dataset Information

DNA hypermethylation of GDF5 in developmental dysplasia of the hip (DDH).

Introduction & objective

Methods

Results

Conclusion

Publications

DNA hypermethylation of GDF5 in developmental dysplasia of the hip (DDH).

Similar Datasets

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