The Risk Factors of Osteoarthritis Essay

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OA has a complex pathology, with numerous environmental and genetic risk factors. Generally, OA is thought to be caused by a complex interaction between environmental and genetic factors (Valdes et al., 2009). A variety of epidemiological studies have demonstrated that genetic susceptibility is a key regulator of OA aetiology (Peach et al., 2005). Genetic variations may influence several OA risk factors, including obesity, skeletal shape, bone mass and synovitis (Valdes et al., 2011a). Furthermore, it has been shown that generalized OA phenotype, sensitivity to pain and disease progression may be also determined by genetic susceptibility (Valdes et al., 2010a; van Meurs et al., 2009; Kerkhof et al., 2010).
In the 1940s familial clustering
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OA is generally recognized as a complex multi-factor disease that has mostly small and modest effect susceptibility loci (Reynard et al., 2012). Over the past decade efforts have been focused on the search for loci that predispose to OA. The following approaches most often have been attempts to provide insight into the complexity of OA genetics: genetic linkage studies (LA), genome-wide association studies (GWAS) and candidate gene studies.
LA exploits the fact that genes have a tendency to be inherited together because they are located close to each other. After identification of a linkage, all genes in the linked region need to be identified and in this manner candidate genes of interest for a disease can be established. LA has been successful in localizing chromosomal regions containing highly penetrant genetic variants. However, in a common disease, such as OA, the success of LA is very limited for a number of reasons, including the low power of identification of genes with modest effects and the large impact of environmental influences (Risch et al., 1996).
After the completion of the Human Genome Sequencing project, which provided the opportunity to systematically search across the genome and to test large numbers of common genetic variants for association with disease, GWAS have been successfully applied to the study of many complex diseases. GWAS make it possible to examine the associations of thousands of
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