Insertion/Deletion Polymorphism of ACE Gene and Anti-Nuclear Antibodies Association Study as Diagnostic Markers in the Rheumatoid Arthritis Patients of Pakistan

  • Amna Sajid
  • Nageen Hussain
Keywords: Rheumatoid arthritis (RA), anti-nuclear antibodies (ANA), immunofluorescence (IF) assay, I/D polymorphism of angiotensin-converting enzyme (ACE) gene, insertion (I) allele, deletion (D) allele, homozygous (II and DD), heterozygous (ID).


Objective: The main emphasis of the present study was to precisely assess the association of I/D polymorphism of ACE gene with Rheumatoid Arthritis. According to previously reported studies, there may be different causes of Rheumatoid Arthritis and the angiotensin enzyme has shown the correlation with different arthritis diseases. TRF, HLA genes and ACE gene I/D polymorphisms have been studied in an aspect of being involved in the manifestation of RA.

Methods: For the purpose of research, general Pakistani Punjabi Population was selected. Immunoassays used for the analysis of samples included; Rheumatoid factor of the patients and C – Reactive protein levels in their blood. The immunofluorescence assay of the RA positive samples was also done to determine the anti-nuclear antibodies in the serum samples of RA subjects. Blood glucose levels in the patients were noted. Contemporarily, the I/D polymorphism of ACE gene was examined in the native Punjabi population of Pakistan.

Results: As a result, significant association was found between RA and ACE gene Insertion/Deletion polymorphism. The RA patients showed high frequency of D allele (50%) and low frequency of I allele (12.5%), contrary to the controls. The comparison between present study and the previously studied populations showed that D allele has proved to be associated with the RA disease.

Conclusion: The present study suggests that further studies are required on the ACE gene polymorphism association with other populations in Pakistan and other countries. The anti-nuclear antibodies could also be a diagnostic marker for Pakistani Rheumatoid Arthritis Patients.

Author Biographies

Amna Sajid

Department of Microbiology and Molecular Genetics, University of the Punjab, Lahore 54590, Pakistan

Nageen Hussain

Department of Microbiology and Molecular Genetics, University of the Punjab, Lahore 54590, Pakistan