Tracy Wang1, Bouziane Azeddine2, Wayne Mah2, Edward J Harvey3, David Rosenblatt4, Chantal Séguin5,6,7. 1. Vascular Biology Research lab, Research Institute (RI) McGill University Health Centre, C9 Montreal General Hospital, 1650 Cedar Avenue, Montreal, QC, H3G 1A4, Canada. tracy.wang@mail.mcgill.ca. 2. Vascular Biology Research lab, Research Institute (RI) McGill University Health Centre, C9 Montreal General Hospital, 1650 Cedar Avenue, Montreal, QC, H3G 1A4, Canada. 3. Department Surgery, Division Orthopaedic Surgery, McGill University Health Centre, B5 Montreal General Hospital, 1650 Cedar Avenue, Montreal, QC, H3G 1A4, Canada. 4. Department of Human Genetics, McGill University, Montreal, Quebec, Canada. 5. Vascular Biology Research lab, Research Institute (RI) McGill University Health Centre, C9 Montreal General Hospital, 1650 Cedar Avenue, Montreal, QC, H3G 1A4, Canada. chantal.seguin2@mcgill.ca. 6. Department of Medicine, Division of Hematology and Oncology, McGill University Health Centre, Montreal, Quebec, H4A 3J1, Canada. chantal.seguin2@mcgill.ca. 7. Glen Site, Cedars Cancer Centre, McGill University Health Centre, 1001 Décarie Blvd., room D02.7519, Montreal, Quebec, H4A 3J1, Canada. chantal.seguin2@mcgill.ca.
Abstract
PURPOSE: Genetic factors and hereditary forms of osteonecrosis of the femoral head (ONFH) have been elucidated through genetic association studies. The significance of these cases is that they suggest an alternative hypothesis to the development of the disease. This review presents a summary of single nucleotide polymorphisms (SNPs) and other genetic mutation variations found in association with ONFH, including our recent identification of a novel mutation in the transient receptor potential vanilloid 4 (TRPV4) gene in association with inherited ONFH. The purpose of this review is to consolidate and categorize genetic linkages according to physiological pathways. METHODS: A systematic review of literature from PubMed and Google Scholar was undertaken with a focus on genetic linkages and hereditary case studies of the disease. Recent genetic analysis studies published after 2007 were the focus of genetic linkages in non-hereditary cases. RESULTS: The summary of these genetic findings identifies biological processes believed to be involved in the development of ONFH, which include circulation, steroid metabolism, immunity, and the regulation of bone formation. CONCLUSION: Taken together, these associations may lead to new pathways of bone repair and remodeling while opening new avenues for therapeutic targets. Knowledge of genetic variations could help identify individuals considered to be at higher risk of developing ONFH and prevent the multiple hit effect.
PURPOSE: Genetic factors and hereditary forms of osteonecrosis of the femoral head (ONFH) have been elucidated through genetic association studies. The significance of these cases is that they suggest an alternative hypothesis to the development of the disease. This review presents a summary of single nucleotide polymorphisms (SNPs) and other genetic mutation variations found in association with ONFH, including our recent identification of a novel mutation in the transient receptor potential vanilloid 4 (TRPV4) gene in association with inherited ONFH. The purpose of this review is to consolidate and categorize genetic linkages according to physiological pathways. METHODS: A systematic review of literature from PubMed and Google Scholar was undertaken with a focus on genetic linkages and hereditary case studies of the disease. Recent genetic analysis studies published after 2007 were the focus of genetic linkages in non-hereditary cases. RESULTS: The summary of these genetic findings identifies biological processes believed to be involved in the development of ONFH, which include circulation, steroid metabolism, immunity, and the regulation of bone formation. CONCLUSION: Taken together, these associations may lead to new pathways of bone repair and remodeling while opening new avenues for therapeutic targets. Knowledge of genetic variations could help identify individuals considered to be at higher risk of developing ONFH and prevent the multiple hit effect.
Entities:
Keywords:
Coagulation defects; Hereditary ONFH; Immunity; Osteonecrosis of the femoral head; Polymorphisms; Steroids; TRPV4
Authors: Chantal Séguin; Md Ruhul Abid; Katherine C Spokes; Ivo G Schoots; Alexandre Brkovic; Martin G Sirois; William C Aird Journal: Biomed Pharmacother Date: 2008-03-24 Impact factor: 6.529
Authors: Wayne Mah; Swapnil K Sonkusare; Tracy Wang; Bouziane Azeddine; Mihaela Pupavac; Jian Carrot-Zhang; Kwangseok Hong; Jacek Majewski; Edward J Harvey; Laura Russell; Colin Chalk; David S Rosenblatt; Mark T Nelson; Chantal Séguin Journal: J Med Genet Date: 2016-06-21 Impact factor: 6.318
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