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Title: Studying the Association of Candidate Genes STAT4, ITGAM, PTPN22 and, IRF5for Susceptibility to Systemic Lupus Erythematosus Using Selected Subsets of Single Nucleotide Polymorphisms
Authors: ايمان محمد جهانباني 
Supervisor: د. سعاد الفضلي
Keywords: Systemic Lupus Erythematosus Single Nucleotide Polymorphisms
Issue Date: 2012
Publisher:  Kuwait university - college of graduate studies
Abstract: v ABSTRACT Systemic Lupus Erythematosus (SLE) is a chronic multi-systemic inflammatory autoimmune disease caused by both genetic and environmental factors. Genetic involvement in SLE has been proven by linkage of many loci to SLE disease. Association studies in addition to genome scans in families with SLE have suggested multiple potential susceptibility alleles. In this study we used candidate gene association approach to focus on selected SNPs from following candidate genes; Signal Transducer and Activator of Transcription 4(STAT4), Integrin-αM (ITGAM), Protein Tyrosine Phosphatase Nonreceptor 22 (PTPN22) and, Interferon Regulatory Factor 5(IRF5) as non-HLA gene that were shown by accumulative evidence to be linked to SLE disease. DNA and RNA were extracted from 137 subjects (87 Kuwaiti SLE patients and 50 ethnically matched healthy controls) after being consented. TaqMan® SNP Genotyping Assays were used for genotyping all subjects. As a step to confirm the effect of the IRF5 rs2004640 SNP in expression of different IRF5 isoforms, Polyacrylamide Gel Electrophoresis (PAGE) test was done. Finally, appropriate statistical tests were applied for data analysis. All seven selected SNPs showed a high association with the SLE disease with P-value of less than 0.05, suggesting their significant role in SLE development. Furthermore, both the IRF5 rs2004640 SNP and ITGAM rs1143679 SNP showed significant association with high titer of anti ds-DNA autoantibody production in the SLE disease process. In addition, IRF5 rs2004640 SNP revealed an association with low age of disease onset (below 28 years old) and ITGAM rs9888739 SNP has been indicated to play a role in Renal nephritis development. Haplotyping data showed contribution of several factors at the same time in the SLE disease development and severity. On the other hand, comparing the studied markers across different ethnicities revealed no difference with STAT4 and IRF5 genes whereas, ITGAM and PTPN22 genes were the heterogeneous genes.
Appears in Programs:2050 Molecular Biology

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