Investigation of Associations between Autoimmunity Associated Variants in PDCD-1 and Juvenile Idiopathic Arthritis Categories Open Access

Tejeda, Christina Idelfia (2014)

Permanent URL: https://etd.library.emory.edu/concern/etds/k643b1674?locale=en
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Abstract

Variants in the gene encoding Programmed Cell Death 1 (PDCD-1) have been associated with susceptibility to Systemic Lupus Erythematosus (SLE) and other autoimmune diseases. Given that clinically distinct autoimmune phenotypes share common genetic susceptibility factors, we sought to determine whether PDCD-1 variants were associated with Juvenile Idiopathic Arthritis (JIA). 834 cases and 855 self-identified Caucasian controls had been recruited from the Pediatric Rheumatology Clinics at the University of Utah and Children's Healthcare of Atlanta. The cases and controls were genotyped for single nucleotide polymorphisms (SNPs) in the PDCD-1 gene (rs10204525, rs7568402, rs7421861 and rs11568821) using TaqMan allelic discrimination assay. Variants were investigated for allelic association with JIA. Given that the phenotype of JIA is heterogeneous, composed of seven categories, stratified analysis was completed. Stratification by gender did not alter the results. Using a combined cohort of about 1700 subjects, we found no association between the PDCD-1 variant and JIA as a whole. This is seen by JIA and SNP rs10204525 (p=0.13), rs7568402 (p=0.45), rs7421861 (p=0.63) and rs11568821 (p=0.13). However, we found a nominal association between enthesitis related JIA in our cohort and rs11568821 (OR=0.22, p=0.012) as well as an association between rs7568402 and systemic JIA (OR=0.53, p=0.0027). Unlike other autoimmunity-associated genes such as PTPN22 and TNFA that are associated with JIA, PDCD-1 does not appear to be associated with JIA, despite showing strong associations with other autoimmune phenotypes like SLE.

Table of Contents

Table of Contents

Index of Figures and Tables.......................................................................................................i

Purpose.................................................................................................................................1 Introduction............................................................................................................................1

Patient and Methods.................................................................................................................14

Results..................................................................................................................................17

Discussion and Conclusion.........................................................................................................22

References.............................................................................................................................26

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