Background: Osteoarthritis (OA) is a degenerative joints disorder influenced by genetic predisposition. We reportedthat rs11718863 DVWA SNP was represented in Sicilian with a more severe Kellgren and Lawrence (KL) radiographicgrade, displaying its predictive role as OA marker progression. Here, we describe the DVWA SNPs: rs11718863,rs7639618, rs7651842, rs7639807 and rs17040821 probably able to induce protein functional changes.Findings: Sixty-one Sicilian patients with knee OA and 100 healthy subjects were enrolled. Clinical and radiographicevaluation was performed using AKSS scores and KL. Linkage Disequilibrium (LD) analyses were performed in orderto verify whether the SNPs segregate as haplotype. All DVWA SNPs’MinorAllele Frequencies (MAF) were greaterthan in the European. The rs7639618 SNP showed a statistical association with KL. Our analyses show that a LDexists among rs11718863 and rs7639618, as well as between rs7651842, rs7639807 and rs17040821 SNPs. We alsoobserved that three out of the 161 individuals investigated were simultaneously homozygous carriers of thers7651842, rs7639807 and rs17040821 MAF alleles.Conclusions: In summary, the purpose of this preliminary research was to highlight possible associations betweenDVWA SNPs and OA clinical and radiographic data. This work represents a multidisciplinary medicine approach tostudy OA where clinical, radiological and genetic evaluation could contribute to better define OA grading.
|Numero di pagine||9|
|Rivista||BMC Research Notes|
|Stato di pubblicazione||Published - 2015|
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