Association of single nucleotide polymorphism rs3213119 variant of IL-12B gene in diagnosed Rheumatoid Arthritis patients.

Objective: To identify the IL12B gene variant (rs3213119) and to find its association in Pakistani clinical population of Rheumatoid Arthritis. Methods: It was a population association (unrelated) case control study, performed from January - December 2022 at Laboratory of Department of Biochemistry and Molecular Biology, Army Medical College, Rawalpindi. Blood samples were collected from all 150 study participants, followed by DNA extraction and Allele-specific polymerase chain reaction performed at Center for Research in Experimental and Applied Medicine (CREAM) Laboratory of Department of Biochemistry and Molecular Biology, Army Medical College Rawalpindi. Statistical analysis was done using 'SPSS' (version-22), followed by gene analysis on 'SNPstat'. Results: About 28.0% of RA patients were smokers, 38.7% had history of RA in a first degree relative and 70.7% had positive history of consanguinity. Considering rs3213119 variant of IL12B gene, frequency of major allele C was 100%, minor allele A was 21%, genotype C/C was 79% and C/A was 21%. Applying the log additive model, the odds ratio of the genotype C/C was 1.00 (adjusted by age and gender with 95 % CI) and the odds ratio of the genotype C/A was 0.00, 52.0% of RA patients originated from four predominant ethnic groups, namely Awaans (18.7%), Rajputs (14.7%), Pathans (12.0%) and Araeens (6.7%). Conclusion: The study findings suggest the role of minor allele 'A' as risk allele in our clinical population. CA genotype confers susceptibility towards the RA development.

Comparison Of Cvd Risk Assessment Via Qrisk®2 Vs Reynolds Risk Score In Inflammatory Joint Diseases.

BACKGROUND: The risk of cardiovascular disease in patients with inflammatory joint diseases is very high and rheumatologists need to screen their patients for this risk. A number of screening tools have been used in this patient population. Objective was to compare the cardiovascular risk assessment in patients with inflammatory joint diseases using QRISK®2 and Reynolds Risk Score. METHODS: Four hundred and one patients with inflammatory joint diseases were enrolled via consecutive non probability sampling. Their future cardiovascular disease risk was calculated via the QRISK®2 and Reynolds Risk Scores. The resulting scores were analyzed for any correlation. RESULTS: There was no significant correlation between the scores obtain via both risk assessment tools (p>0.05).

Expression Analysis of Matrix Metalloproteinase-9 Gene in Rheumatoid Arthritis Patients on Disease Modifying Anti-Rheumatic Drugs.

OBJECTIVE: To evaluate matrix metalloproteinase-9 gene expression in rheumatoid arthritis patients on disease modifying anti-rheumatic agents with the objective to further modify the current treatment regimen if indicated in order to prevent progression to deforming rheumatoid arthritis. STUDY DESIGN: Cross-sectional comparative study. PLACE AND DURATION OF STUDY: CREAM Lab (Centre for Research in Experimental and Applied Medicine) and Department of Biochemistry and Molecular Biology, Army Medical College, in collaboration with Rheumatology Department at Military Hospital Rawalpindi from November 2015 to November 2016. METHODOLOGY: A total of 60 patients of both genders were taken, among which 30 were patients and 30 were controls. Non-probability purposive sampling technique was used. RNA was extracted from respective blood sample and cDNA was synthesised and after optimisation, expression analysis of matrix metalloproteinase-9 gene was seen on real time PCR. RESULTS: Mean age of rheumatoid arthritis patients and healthy controls was 49.27 ±12.11and 42.10 ±9.02 years, respectively. Among controls, 50% were males (15) and 50% were females (15); whereas, among patients, 30% (9) were males and 70% (21) were females. The mean cycle threshold (Ct) value of MMP-9 expressions in patients was 27.9147 ±2.953; whereas, mean Ct of controls was 23.84 ±2.845. Down regulation of this gene was found in patients in comparison to controls. CONCLUSION: Downregulation of matrix metalloproteinase-9 was observed in patients as compared to controls indicating that current treatment regimen did not require further modification.