Research Advances in Understanding the Genetic Basis of Hip Disease View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

2017

AUTHORS

George Feldman , Javad Parvizi , Hind Sawan

ABSTRACT

Genetic factors play an important role in the etiology of types of osteoarthritis (OA) including primary OA, early onset OA with chondrodyplasia and post-traumatic OA. A major risk factor for OA is an imperfect joint structure, subtle forms of which are now detectable using active shape modeling and MRI. Developmental dysplasia of the hip (DDH) illustrates the paradigm that these subtle inherited anatomic joint defects, present at birth, may be a causative culprit in OA. Whole large genome-wide association studies (GWAS) have shown small phenotypic effects contributed by a large number of variants. Most of the genes contributing to OA are not accounted for. GWAS studies miss the potentially large effects that can be contributed by rare genomic variants. These rare variants can be found by1. Searching for genetic variants co-inherited by affected family members using whole-exome sequencing. 2. Extreme-trait sequencing—searching for shared variants among individuals at the extreme ends of the clinical spectrum of a disorder. More... »

PAGES

929-933

Book

TITLE

Hip Joint Restoration

ISBN

978-1-4614-0693-8
978-1-4614-0694-5

Author Affiliations

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-1-4614-0694-5_100

DOI

http://dx.doi.org/10.1007/978-1-4614-0694-5_100

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1015774048


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