Journal of Genetics

, 98:3 | Cite as

Genetic and expression changes in \(\hbox {TNF-}\upalpha \) as a risk factor for rheumatoid arthritis pathogenesis in northeast India

  • Somdatta Das
  • Chitralekha Baruah
  • Anjan Kumar Saikia
  • Diptika Tiwari
  • Sujoy BoseEmail author
Research Article


Antitumour necrosis factor-alpha \((\hbox {TNF-}\upalpha )\) therapy is used as a clinical intervention for rheumatoid arthritis (RA) but differences exist in response to the treatment which makes the candidature of the screening of \(\hbox {TNF-}\upalpha \) alteration(s) at genetic and expression levels an important agenda prior to treatment. This study aims to determine the associative role of \(\hbox {TNF-}\upalpha \) –308G/A polymorphism and differential expression of \(\hbox {TNF-}\upalpha \) in the pathogenesis of RA. A case–control study where a total of 126 RA patients were enrolled based on ACR-EULAR (2010) criteria, along with 160 community matched age and sex controls over a period of three years. The differential expression level of \(\hbox {TNF-}\upalpha \) mRNA and protein level was studied and \(\hbox {TNF-}\upalpha \) –308G/A polymorphism was screened by T-ARMS PCR assay. All statistical analysis was performed using SPSS software. mRNA expression level of \(\hbox {TNF-}\upalpha \) was upregulated in RA cases (avg. \(15.85\pm 9.52\) fold) compared to control. \(\hbox {TNF-}\upalpha \) protein level was found to be higher in RA cases (\(28.62\pm 7.17\) pg/mL) compared to control (\(23.14\pm 6.91\) pg/mL). \(\hbox {TNF-}\upalpha \) –308 variant GA genotype was higher in RA (46.03%) than in control (25%). The presence of \(\hbox {TNF-}\upalpha \) –308 variant A allele was associated with increased risk of RA susceptibility (odds ratio \((\hbox {OR})=2.559\) at 95% confidence interval (CI), \(P < 0.001\)) but not severity (\(\hbox {OR}=1.617\) at 95% CI, \(P=0.571\)). The presence of –308 variant genotype was associated with a higher \(\hbox {TNF-}\upalpha \) mRNA and protein expression. The presence of \(\hbox {TNF-}\upalpha \) –308A allele is associated with increased risk of RA susceptibility and differential \(\hbox {TNF-}\upalpha \) expression, and has prognostic significance. Association of higher \(\hbox {TNF-}\upalpha \) pro-inflammatory cytokine levels with northeast Indian patients makes them suitable subjects for \(\hbox {anti-TNF-}\upalpha \) therapy.


autoimmunity rheumatoid arthritis tumour necrosis factor proinflammatory cytokine genetics case–control study 



The authors would like to acknowledge the staff of Gauhati Medical College and Hospital, Guwahati, Assam, India for their support in sample collection during the study.


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Copyright information

© Indian Academy of Sciences 2019

Authors and Affiliations

  • Somdatta Das
    • 1
  • Chitralekha Baruah
    • 2
  • Anjan Kumar Saikia
    • 3
  • Diptika Tiwari
    • 1
  • Sujoy Bose
    • 4
    Email author
  1. 1.Department of Bioengineering and TechnologyGauhati UniversityGuwahatiIndia
  2. 2.Department of MedicineGauhati Medical College and HospitalGuwahatiIndia
  3. 3.Gauhati Neurological and Research CentreGuwahatiIndia
  4. 4.Department of BiotechnologyGauhati UniversityGuwahatiIndia

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