Polymorphisms of the HS1,2 enhancer of the 3'lgH RR and the association with Celiac Disease

Abstract

<p>Celiac Disease (CD) is an autoimmune disorder that manifests when an individual is exposed to gliadin, a gluten found in wheat. Upon exposure to gliadin, the enzyme tissue transglutaminase modifies the protein causing an inflammatory response in the small intestine that truncates the villi lining. Since the villi are truncated the absorption of nutrients is greatly diminished. In humans the 3'lgH RR is located downstream of the IgH locus and is composed of four enhancers. This study will focus on the HS1,2 enhancer, in which there are two: one (HS1,2-A) is 3' to the Cα-1 gene and the other (HS1,2-B) is 3' to the Cα-2 gene. There are four polymorph isms of the Cα-1 HS1,2-A alleles (la,2a,3a, and 4a) and two polymorph isms in the Cα-2 HS1,2-B alleles (3b, 4b). Previous studies have demonstrated that allele 2 is at a higher frequency in individuals with autoimmune disorders such as CD. The polymorph isms also have varying frequencies in different populations. Individuals from African descent have a very low frequency of allele 2a and an increase in frequency of the allele 3a. The objective of this project is to compare the allelic frequency of patients diagnosed with CD to control non-CD patients. Current studies have focused on optimizing the isolation and PCR analysis of human genomic DNA isolated from buccal cells using a dH20 mouthwash. Genomic DNA was successfully isolated and the HS1,2-A and HS1,2-B regions were analyzed by nested PCR to identify the polymorphic alleles .. Allelic frequencies will be assessed to determine if there is a statistically significance association of a particular allele with a CD patient population.</p><p>This presentation occurred at the Wright State University Campus-Wide Celebration of Research, Scholarship and Creative Activities on April 16, 2010</p>