Association of Intronic Single Nucleotide Polymorphism (SNP) of CALM 1 gene with Osteoarthritis of the Knee in Indian Population: A Case-control Study

Osteoarthritis knee is one of the most prevalent disorders in the Indian subcontinent. The wide prevalence and varying features makes it a disease of disguise. Multiple etiological factors have been described. The most recent is genetic contribution in the causation of the disease. This case control study was conducted in the Department of Orthopaedic Surgery, CSM Medical University, Lucknow in collaboration with IIT, Kanpur. 120 cases and 120 controls were enrolled. Clinico-radiological 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, Polymerase chain reaction (PCR) and Restriction fragment length polymorphism (RFLP) method. Statistical analysis was done using Stata software. There was no significant difference between age, sex and BMI among cases and controls (p value > .05). ESR (p value =0.0000), fasting blood sugar (p value= 0.0004) and serum uric acid (p value=0.0001) were significantly different among cases and controls. SNP was found in significantly higher number in cases than controls (p value = .0022). Heterozygosity was found only in 5 cases. Logistic regression has also proved significant association of occurrence of Single Nucleotide Polymorphism (SNP) with disease. CALM-1 gene intronic SNP (rs3213718) is present in Indian population. Occurrence of this SNP is significantly affecting the disease. KEYWORDS: Osteoarthritis knee; Single Nucleotide Polymorphism; CALM 1 gene Internet Journal of Medical Update 2012 January;7(1):19-26