RESUMO
The aim of this study was to examine a single-nucleotide polymorphism (SNP) rs7639618 of double von Willebrand factor (DVWA) gene for the association with osteoarthritis (OA) susceptibility in Korean cohort. The study was a part of the Korean cohort study. Two thousand four hundred sixty-two subjects aged 50 years and older who were derived from the cohort and who were assessed for OA at the knee were genotyped. The anteroposterior extended-view weight-bearing radiographs of the knees were obtained. Of the subjects, 725 subjects had radiographic OA. Genomic DNA was extracted from peripheral blood using a QIAamp DNA Blood Mini Kit (Qiagen, Valencia, CA). Genotyping was performed using High Resolution Melt or the Taq-Man allelic discrimination assay and the Rotor-Gene 6000 (Corbett Research, Sydney,Australia). Associations were tested by calculating the odds ratios (ORs) and 95% confidence intervals (95% CIs), using logistic regression analysis with adjustments for age, gender, and body mass index (BMI). The mean age of the OA patients (females: 554 subjects, 76.4%) was 67.4 (7.9) years. The intraobserver agreement was high for the identification of osteophytes (κ: 0.80) and joint space narrowing (κ: 0.70). There was no significant difference (all P values > 0.05) in the genotype or allele frequencies between the patients with OA and healthy controls. There was also no significant difference when the cases were adjusted by age, gender, and BMI. The associations of DVWA SNPs with OA were noted in previous studies and were not found in the Korean OA cohort.
Assuntos
Povo Asiático/genética , Colágeno Tipo VI/genética , Osteoartrite do Joelho/genética , Polimorfismo de Nucleotídeo Único , Idoso , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , PseudogenesAssuntos
Proteínas dos Microfilamentos/genética , Osteoartrite do Joelho/genética , Polimorfismo de Nucleotídeo Único , Idoso , Estudos de Casos e Controles , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Articulação do Joelho/diagnóstico por imagem , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Razão de Chances , Osteoartrite do Joelho/diagnóstico por imagem , Fenótipo , Radiografia , República da Coreia , Medição de Risco , Fatores de RiscoRESUMO
OBJECTIVES: To examine two single-nucleotide polymorphisms (SNPs) for their association with knee osteoarthritis (OA) susceptibility in Korean cohort. METHODS: Two thousand four hundred and sixty-two subjects aged 50 years and older were assessed for OA at the knee, were genotyped with two SNPs (GDF5; rs143383 and ADAM12; rs3740199). Radiographs were read by two examiners that used an atlas of radiographic features to obtain a global Kellgren/Lawrence (K/L) score. Genomic DNA was extracted from peripheral blood using a QIAamp DNA Blood Mini Kit. GDF5 genotyping was performed by high resolution melting analysis. ADAM12 genotyping was performed by TaqMan assay. The allele frequencies were assessed by counting alleles. Associations were tested by calculating the odds ratios (ORs) and 95% confidence intervals (95% CIs), using logistic regression analysis with adjustments for age, gender and body mass index (BMI). RESULTS: Of this cohort, 725 subjects had radiographic OA (defined as a K/L score of ≥ 2). The mean age of the OA patients (females: 76.4%) was 67.4 (7.9) years. In GDF5, we observed a T-allele frequency of 74.1% in our controls, compared with that of 73.7% in patients (P = 0.72; OR 0.97, 95% CI; 0.83-1.13). In ADAM12, the frequency of G-allele in the case (54.6%) versus the control (55.0%) was calculated (P = 0.94, OR 1.01, 95% CI; 0.88-1.15). There was no significant difference in the genotype frequencies between the patients and healthy controls. CONCLUSION: The associations of two SNPs with OA that were noted in previous studies, were not found in the Korean OA cohort.