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DVWA gene polymorphisms and osteoarthritis

BACKGROUND: 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...

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Autores principales: Bravatà, Valentina, Minafra, Luigi, Forte, Giusi I, Cammarata, Francesco P, Saporito, Michele, Boniforti, Filippo, Lio, Domenico, Gilardi, Maria C, Messa, Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4323016/
https://www.ncbi.nlm.nih.gov/pubmed/25648366
http://dx.doi.org/10.1186/s13104-015-0987-1
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author Bravatà, Valentina
Minafra, Luigi
Forte, Giusi I
Cammarata, Francesco P
Saporito, Michele
Boniforti, Filippo
Lio, Domenico
Gilardi, Maria C
Messa, Cristina
author_facet Bravatà, Valentina
Minafra, Luigi
Forte, Giusi I
Cammarata, Francesco P
Saporito, Michele
Boniforti, Filippo
Lio, Domenico
Gilardi, Maria C
Messa, Cristina
author_sort Bravatà, Valentina
collection PubMed
description BACKGROUND: 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. FINDINGS: 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. CONCLUSIONS: 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.
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spelling pubmed-43230162015-02-11 DVWA gene polymorphisms and osteoarthritis Bravatà, Valentina Minafra, Luigi Forte, Giusi I Cammarata, Francesco P Saporito, Michele Boniforti, Filippo Lio, Domenico Gilardi, Maria C Messa, Cristina BMC Res Notes Short Report BACKGROUND: 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. FINDINGS: 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. CONCLUSIONS: 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. BioMed Central 2015-02-04 /pmc/articles/PMC4323016/ /pubmed/25648366 http://dx.doi.org/10.1186/s13104-015-0987-1 Text en © Bravatà et al.; licensee BioMed Central. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Short Report
Bravatà, Valentina
Minafra, Luigi
Forte, Giusi I
Cammarata, Francesco P
Saporito, Michele
Boniforti, Filippo
Lio, Domenico
Gilardi, Maria C
Messa, Cristina
DVWA gene polymorphisms and osteoarthritis
title DVWA gene polymorphisms and osteoarthritis
title_full DVWA gene polymorphisms and osteoarthritis
title_fullStr DVWA gene polymorphisms and osteoarthritis
title_full_unstemmed DVWA gene polymorphisms and osteoarthritis
title_short DVWA gene polymorphisms and osteoarthritis
title_sort dvwa gene polymorphisms and osteoarthritis
topic Short Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4323016/
https://www.ncbi.nlm.nih.gov/pubmed/25648366
http://dx.doi.org/10.1186/s13104-015-0987-1
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