Association of CTLA-4 A/G polymorphism with occurrence of ocular squamous cell carcinoma

Abstract

Introduction: The association of polymorphisms of genes controlling the immune regulation with development of cancers and autoimmune diseases, has been a heavily researched area with the hope of probable discovery of a biomarker or antitumour vaccine. The most commonly investigated polymorphism is CTLA-4 +49A/G. However, no research has been carried out to find out association between eye cancers and the same polymorphism till date, to the best of our knowledge. Purpose: To find out association between CTLA-4 +49A/G polymorphism and ocular surface squamous neoplasia (OSSN). Methods: 12 histologically proven OSSN patients were taken as subjects. 20 cataract patients were taken for comparison. This data was further compared with the published data on 103 individuals from an Indian study. DNA extraction, SNP selection and genotyping was done. Odds ratio, confidence interval and statistical significance were found out. Results: 95% confidence interval was 0.044-1.521 between OSSN cases and cataract group (p=0.144). 95% confidence interval of the OSSN cases and healthy control group was 0.14-2.375 (p=0.544). Conclusions: Statistically significant difference was not found in the frequency of polymorphism between OSSN cases and groups taken for comparison, in this pilot study. Larger number of OSSN cases need to be evaluated for the polymorphism.

Keywords

• CTLA4
• OSSN
• +49 A/G Polymorphism
• PCR-RLFP
• Immune regulation