Role of HLA-DRB1, PTPN22, CTLA4 Gene Polymorphisms in Susceptibility to Rheumatoid Arthritis
Journal Title: Journal of Medical Science And clinical Research - Year 2016, Vol 4, Issue 7
Abstract
Background and AIM: The genetic and environmental factors are believed to play an important role in the pathogenesis of rheumatoid arthritis (RA), the precise etiology is still uncertain. Regarding its genetic components, the strongest genetic association with RA is that found for certain alleles of HLA-DRB1. Recent studies have revealed that the single‐nucleotide polymorphism (SNP) of non-HLA PTPN22 and CTLA4 gene were associated with RA. The associations of HLA, PTPN22 and CTLA4 polymorphisms with RA risk have been less well replicated. Thus, the current study was undertaken to investigate the effects of HLA-DRB1, PTPN22, CTLA4 gene polymorphisms and autoantibodies in susceptibility to RA. Methods: A total of 200 patients fulfilled the criteria for RA and 200 healthy individuals were included in the study. Anti-cyclic citrullinated peptide (anti-CCP) antibodies and rheumatoid factor (RF) were measured by enzyme-linked immunosorbent assay (ELISA). HLA-DRB1 alleles were determined by polymerase chain reaction-sequence specific primer (PCR-SSP) method. Samples were genotyped for PTPN22 1858C/T (rs2476601) and CTLA4 CT60 (rs3087243) variants using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results: In RA patients 88% and 82% were positive for anti-CCP and RF autoantibodies, respectively. A significant increase in the frequency of HLA-DRB1*01, HLA-DRB1*04, HLA-DRB1*10, HLA-DRB1*14 shared epitope (SE) alleles were identified in RA patients, whereas in healthy subjects, they were HLADRB1*03, HLA-DRB1*07, HLA-DRB1*11, HLA-DRB1*13. There was no association of the PTPN22 1858T variant with RA and it seems to be independent of MHC associations. The frequency of CTLA4 CT60 A allele carriers was significantly higher in RA patients and also it is preferentially in SE-positive RA patients. Conclusion: Our results confirmed the previously reported HLA-DRB1 SE alleles associations with RA. The CTLA4 polymorphism appears to interfere with HLA-DRB1 susceptibility to RA. On the other hand, we failed to provide evidence for the association of the PTPN22 SNP with RA.
Authors and Affiliations
Vasanth Konda Mohan
Keywords
Related Articles
- EP ID EP213858
- DOI -
- Views 91
- Downloads 0
Total Thyroidectomy for Benign Thyroid Diseases-Our Experience
Background: Even though Total Thyroidectomy is the treatment of choice for Multinodular goiter ,thyroid cancer, many surgeon deter to do total thyroidectomy for benign thyroid diseases because of risk associated with tot...
Comparison of the Accuracy of MRI, Sonography and Mammography in Predicting the Pre Operative Breast Tumor Size Measurements
Background: 70 patients with primary breast cancer who presented preoperatively in the New Life Hospital, Hyderabad from Jan 2016 to June 2016 were retrospectively analyzed. Accurate preoperative assessment of maximum tu...
Incidence and clinical profile of Triple negative breast cancer in Kashmir
Breast cancer is a heterogenous disease, encompassing a plethora of entities which not only have distinct morphological features but also clinical behaviour. In recent years it has become apparent that this diversity may...
Perianal Fibroma: A Rare Encounter!! Case Report with Review of Literature
Fibroma of ano rectal region is very rare. It may arise from a hypertrophied papilla or by fibrous infiltration of a large prolapsing internal haemorrhoid, generally as a result of repeated attacks of thrombosis and stra...
Comparison of Efficacy of Ripasa Scoring System with Modified Alvarado Scoring System in Diagnosing Acute Appendicitis
Background: Acute appendicitis is one of the commonest surgical emergencies. Different scoring systems are postulated to arrive at a diagnosis. A new scoring system named RIPASA scoring system was developed to aid in the...