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DVWA gene polymorphisms and osteoarthritis
- Source :
- BMC Research Notes, BMC research notes 8 (2015): 30. doi:10.1186/s13104-015-0987-1, info:cnr-pdr/source/autori:Valentina Bravatà 1*, Luigi Minafra 1*, Giusi I Forte 1, Francesco P Cammarata 1, Michele Saporito 2, Filippo Boniforti 3, Domenico Lio 4, Maria C Gilardi 1,5,6 and Cristina Messa 1,6,7/titolo:DVWA gene polymorphisms and osteoarthritis/doi:10.1186%2Fs13104-015-0987-1/rivista:BMC research notes/anno:2015/pagina_da:30/pagina_a:/intervallo_pagine:30/volume:8
- Publication Year :
- 2015
- Publisher :
- BioMed Central, 2015.
-
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. 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.
- Subjects :
- Male
Linkage disequilibrium
Short Report
Single-nucleotide polymorphism
Osteoarthritis
Collagen Type VI
Bioinformatics
Polymorphism, Single Nucleotide
General Biochemistry, Genetics and Molecular Biology
Linkage Disequilibrium
White People
Gene Frequency
Haplotype
Genetic predisposition
DVWA
Medicine
SNP
Humans
Genetic Predisposition to Disease
Allele
Osteoarthritis, DVWA, Single nucleotide polymorphisms, Haplotypes, KL
Allele frequency
Sicily
Alleles
Aged
Medicine(all)
Aged, 80 and over
Biochemistry, Genetics and Molecular Biology(all)
business.industry
Homozygote
General Medicine
Single nucleotide polymorphisms
Middle Aged
Osteoarthritis, Knee
medicine.disease
Single nucleotide polymorphism
KL
Haplotypes
Osteoarthriti
Female
business
Pseudogenes
Subjects
Details
- Language :
- English
- ISSN :
- 17560500
- Volume :
- 8
- Database :
- OpenAIRE
- Journal :
- BMC Research Notes
- Accession number :
- edsair.doi.dedup.....afe4211312a1fdcab87ef0619e3080b4