Association of primary knee osteoarthritis with DVWA SNP in a group of Egyptian population: a case–control study

Abstract

BackgroundOsteoarthritis (OA) is a highly prevalent medical condition which represents a high impact on public health. In addition, the underlying etiology still has been unelucidated. Osteoarthritis is a multifactorial disease with a high genetic predisposition. Identification of genes associated with higher OA predisposition can assist in elucidating the underlying molecular mechanisms as well as detecting possible areas for gene-targeted OA therapies. Among these genetic targets, double Von Willebrand factor domain A (DVWA) has been shown to be related to β-tubulin protein interaction which is considered a protecting factor from OA development. Studies have shown a reduction in protein binding strength with single-nucleotide polymorphism (SNP) rs11718863 in the Von Willebrand factor domain A (VWA domain). Development of weakness between β-tubulin and the wild protein has been linked with increased risk of OA development. We aimed to investigate the association between primary knee OA susceptibility and severity with DVWA rs11718863 SNP among a subset of Egyptian population.ResultsThere was no statistically significant difference in the incidence of AA, AT and TT genotypes frequencies between patient group and control group (P = 0.502). There was no statistically significant difference between different genotypes of DVWA rs11718863 SNP as regards the radiological assessment of different knee joint compartments using Kellgren Lawrence scale (P = 0.960 for medial tibiofemoral compartment), (P = 0.260 for lateral tibiofemoral compartment) and (P = 0.597 for patellofemoral compartment).ConclusionsDVWA rs11718863 SNP was not demonstrated to influence OA susceptibility and severity among the studied Egyptian population subset. Larger sample size with inclusion of more genetic variants of DVWA SNP would be necessary to support the presence or absence of any relationship between DVWA SNP and OA.