title: DVWA gene polymorphisms and osteoarthritis.
abstract: 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.
  
  
  RESULTS
  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.
authors: IBFM CNR-LATO, Cefalù, PA, Italy. valentina.bravata@ibfm.cnr.it.
authors: Valentina
authors: V
authors: Bravatà
authors: IBFM CNR-LATO, Cefalù, PA, Italy. luigi.minafra@ibfm.cnr.it.
authors: Luigi
authors: L
authors: Minafra
authors: IBFM CNR-LATO, Cefalù, PA, Italy. giusi.forte@ibfm.cnr.it.
authors: Giusi I
authors: GI
authors: Forte
authors: IBFM CNR-LATO, Cefalù, PA, Italy. francesco.cammarata@ibfm.cnr.it.
authors: Francesco P
authors: FP
authors: Cammarata
authors: Clinica Ortopedica e Traumatologica, Università degli Studi di Palermo, Palermo, Italy. michele.saporito01@unipa.it.
authors: Michele
authors: M
authors: Saporito
authors: Unità Operativa di Ortopedia, San Raffaele Hospital "G. Giglio", Cefalù, PA, Italy. ortopedia@hsrgiglio.it.
authors: Filippo
authors: F
authors: Boniforti
authors: Department of Pathobiology and Medical and Forensic Biotechnologies, University of Palermo, Palermo, Italy. domenico.lio@unipa.it.
authors: Domenico
authors: D
authors: Lio
authors: IBFM CNR-LATO, Cefalù, PA, Italy. mariacarla.gilardi@ibfm.cnr.it.|Nuclear Medicine, San Raffaele Scientific Institute, Milan, Italy. mariacarla.gilardi@ibfm.cnr.it.|Department of Health Sciences, Tecnomed Foundation, University of Milano-Bicocca, Milan, Italy. mariacarla.gilardi@ibfm.cnr.it.
authors: Maria C
authors: MC
authors: Gilardi
authors: IBFM CNR-LATO, Cefalù, PA, Italy. cristina.messa@unimib.it.|Department of Health Sciences, Tecnomed Foundation, University of Milano-Bicocca, Milan, Italy. cristina.messa@unimib.it.|Nuclear Medicine Center, San Gerardo Hospital, Monza, Italy. cristina.messa@unimib.it.
authors: Cristina
authors: C
authors: Messa
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D024142:Collagen Type VI / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020370:Osteoarthritis, Knee / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D011544:Pseudogenes / Q000235:genetics*; D012802:Sicily; D044465:White People
chemical_list: C531065:COL6A4P1 protein, human; D024142:Collagen Type VI
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