Determination of Biomarkers for Autoimmune Diseases In DNA Replication and Repair and Galectin-3 Enzymes.

Elena Hunsanger


Systematic Lupus Erythematosus (SLE) and Celiac disease are autoimmune diseases that are caused by the body’s immune system targeting its own tissues, causing chronic inflammation and damage. This study searches for single nucleotide polymorphism (SNP) biomarkers associated with these diseases, to potentially open up new avenues of prevention, diagnosis, and treatment for them. The sample size for the SLE database was (approximately) 1150, and 2300 for the Celiac disease database. A subset of SNPs in genes coding for the following proteins were examined using the program HyDn-SNP-S: Galectin-3, Mismatch Repair proteins, Human AlkB homologs, and the DNA polymerases. Two genes were found to contain SNPs in exonic regions: two exonic SNPs were found in mismatch repair protein MutS Homolog 3 (MSH3) and one in DNA Polymerase Alpha 2 (POLA2). Analysis of SLE population data showed that the two MSH3 SNPs are unlikely to have a significant association with SLE, but that the POLA2 SNP may decrease the incidence of the disease in carriers versus the general population. Previous studies show that POLA2 malfunction in T cells is connected with immunosuppression, indicating a potential mechanism for the protective effect.


Single Nucleotide Polymorphisms; Autoimmune Disease; Biomarkers

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