DVWA gene polymorphisms and osteoarthritis

Osteoarthritis (OA) is a degenerative joints disorder influenced by genetic predisposition. We reported that rs11718863 DVWA SNP was represented in Sicilian with a more severe Kellgren and Lawrence (KL) radiographic grade, displaying its predictive role as OA marker progression. Here, we describe th...

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Bibliographic Details
Published in:BMC research notes 2015-02, Vol.8 (1), p.30-30
Main Authors: Bravatà, Valentina, Minafra, Luigi, Forte, Giusi I, Cammarata, Francesco P, Saporito, Michele, Boniforti, Filippo, Lio, Domenico, Gilardi, Maria C, Messa, Cristina
Format: Article
Language:English
Subjects:
Aged
Aged, 80 and over
Alleles
Analysis
Collagen Type VI - genetics
European Continental Ancestry Group
Female
Gene Frequency
Genetic aspects
Genetic Predisposition to Disease
Haplotypes
Homozygote
Humans
Linkage Disequilibrium
Male
Middle Aged
Osteoarthritis
Osteoarthritis, Knee - ethnology
Osteoarthritis, Knee - genetics
Osteoarthritis, Knee - pathology
Polymorphism, Single Nucleotide
Pseudogenes - genetics
Risk factors
Short Report
Sicily
Single nucleotide polymorphisms
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Summary:Osteoarthritis (OA) is a degenerative joints disorder influenced by genetic predisposition. We reported that rs11718863 DVWA SNP was represented in Sicilian with a more severe Kellgren and Lawrence (KL) radiographic grade, 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. Sixty-one Sicilian patients with knee OA and 100 healthy subjects were enrolled. Clinical and radiographic evaluation was performed using AKSS scores and KL. Linkage Disequilibrium (LD) analyses were performed in order to verify whether the SNPs segregate as haplotype. All DVWA SNPs'MinorAllele Frequencies (MAF) were greater than in the European. The rs7639618 SNP showed a statistical association with KL. Our analyses show that a LD exists among rs11718863 and rs7639618, as well as between rs7651842, rs7639807 and rs17040821 SNPs. We also observed that three out of the 161 individuals investigated were simultaneously homozygous carriers of the rs7651842, rs7639807 and rs17040821 MAF alleles. In summary, the purpose of this preliminary research was to highlight possible associations between DVWA SNPs and OA clinical and radiographic data. This work represents a multidisciplinary medicine approach to study OA where clinical, radiological and genetic evaluation could contribute to better define OA grading.
ISSN:1756-0500
1756-0500
DOI:10.1186/s13104-015-0987-1