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Intronic single nucleotide polymorphism (SNP) of CALM-1 gene is s | 507
Rheumatology: Current Research

Rheumatology: Current Research
Open Access

ISSN: 2161-1149 (Printed)

+44-20-4587-4809

Intronic single nucleotide polymorphism (SNP) of CALM-1 gene is significantly associated with osteoarthritis knee: A case control study


International Conference and Exhibition on Orthopedics & Rheumatology

August 13-15, 2012 Hilton Chicago/Northbrook, USA

Divya Sanghi

Accepted Abstracts: Rheumatology & Orthopedics

Abstract :

Objective: Though the pathology of osteoarthritis is well defined, the etiological factors are not fully characterized. Genetic exploration of genome has resulted in several susceptibility loci isolation confirming the genetic association of disease. The Japanese population has shown higher incidence of osteoarthritis in patients having intronic and core promoter SNP in CALM- 1 gene. At the same, Caucasian and Greek population showed absence of any such predisposition in their population with the CALM-1 gene SNP. The objective of the study was to determine the association of CALM1 gene polymorphism with knee osteoarthritis. Methods: We planned a case control study in patients of primary osteoarthritis knee with aims being to study the presence of CALM-1 gene SNP, correlation of its presence with osteoarthritis and its correlation with clinico-radiological stage of the disease. 120 cases and 120 controls were enrolled. Clinicoradiological features were noted and symptomatic clinical scoring was done. Genetic polymorphism in relation to intronic region of Calm-1 gene was studied by DNA extraction, PCR and RFLP method. Statistical analysis was done using Stata software. Results: 39 (32.50%) cases and 18 (15%) controls showed the presence of SNP which was significant ( P value = 0.0022). Among SNP positive cases and controls, 5 (8.7%) cases and none controls were heterozygosis for the occurrence of SNP. On regression of affecting variables against SNP, taking the presence of osteoarthritis as dependent variable, we calculated the adjusted odds ratio of all the significant variables. Thereafter, on logistic regression to see the effect of variables on the occurrence of disease, we found age, sex, and presence of SNP affecting the occurrence of disease significantly ( p value < .05). Conclusions: CALM-1 gene intronic SNP (rs3213718) is present in Indian Population. The target SNP is significantly affecting the disease as the difference between cases and controls is highly significant (p value = .0022). Females are more predisposed for OA. Mean age of presentation in cases was 53.31+/-9.5 years. Age is a significant factor in causation of disease. However it is not influenced by existence of SNP. Between cases and controls, height, weight and BMI did not show any significant difference.

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