"Genetic associations in autoimmune diseases"

Abstract

Autoimmune diseases (ADs) occur due to an excessive and incorrect response of the immune system against the human body itself. Genetic risk factors play an important role in both the onset and course of the disease while, environmental factors can also have an effect. In the last decades there has been a substantial increase in both the incidence and prevalence of the ADs, especially in rheumatic, endocrine and gastrointestinal autoimmune diseases.

One of the most important and common autoimmune diseases is rheumatoid arthritis (RA), in which this paper is mainly focused on. Various genes have been identified that show the genetic association of RA with other autoimmune diseases. Moreover, multiple genetic pathways that are involved in autoimmunity have been investigated. In the current dissertation it has been conducted a genetic correlation of RA with other autoimmune diseases and an enrichment analysis of RA with systemic lupus erythematosus. The analysis showed a strong genetic correlation of RA mainly with systemic lupus erythematosus as well as with celiac disease and primary biliarcholangitis. A positive correlation was also observed for ulcerative colitis, but it didn’t remain statistically significant after adjusting for multiple comparisons. The results were further confirmed through an enrichment analysis as well as search of the literature. The impact of autoimmune diseases on social life, psychology and especially on patients’ health is significant, as a late diagnosis can be fatal. However, the number of relevant studies is limited and the comorbidity makes diagnosis and treatment difficult. The consequence  of this is the psychological collapse and the financial burden of both the patients and the public health system.

This paper could be an incentive for further research to enable in the future the most immediate and valid diagnosis based on genes and family history as well as to find new and more specific treatment targets for all diseases.

ANAXORLI Kalliopi