Bravatà Valentina, Minafra Luigi, Forte Giusi I, Cammarata Francesco P, Saporito Michele, Boniforti Filippo, Lio Domenico, Gilardi Maria C, Messa Cristina
IBFM CNR-LATO, Cefalù, PA, Italy.
Clinica Ortopedica e Traumatologica, Università degli Studi di Palermo, Palermo, Italy.
BMC Res Notes. 2015 Feb 4;8:30. doi: 10.1186/s13104-015-0987-1.
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.
骨关节炎（OA）是一种受遗传易感性影响的退行性关节疾病。我们报告称，rs11718863 DVWA单核苷酸多态性（SNP）在西西里人中表现为更严重的凯尔格伦和劳伦斯（KL）放射学分级，显示出其作为OA标志物进展的预测作用。在此，我们描述了可能能够诱导蛋白质功能变化的DVWA SNPs：rs11718863、rs7639618、rs7651842、rs7639807和rs17040821。
招募了61名患有膝骨关节炎的西西里患者和100名健康受试者。使用AKSS评分和KL进行临床和放射学评估。进行连锁不平衡（LD）分析以验证SNP是否作为单倍型分离。所有DVWA SNPs的次要等位基因频率（MAF）均高于欧洲人。rs7639618 SNP与KL存在统计学关联。我们的分析表明，rs11718863和rs7639618之间以及rs7651842、rs7639807和rs17040821 SNPs之间存在LD。我们还观察到，在161名被调查个体中，有3人同时是rs7651842、rs7639807和rs17040821 MAF等位基因的纯合携带者。
总之，这项初步研究的目的是突出DVWA SNPs与OA临床和放射学数据之间可能的关联。这项工作代表了一种多学科医学方法来研究OA，其中临床、放射学和遗传学评估有助于更好地定义OA分级。
