Assessment of the complexities of genetic contributions to Ankylosing Spondylitis

Munn, Alexandra (2017) Assessment of the complexities of genetic contributions to Ankylosing Spondylitis. Masters thesis, Memorial University of Newfoundland.

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Abstract

Objectives This research assesses whether structural variations can predict disease expression and whether gene-environment interactions can predict radiographic severity and progression. Methods In a cohort of 896 AS patients the associations of UGT2B17 CNV with HLA B*27 and extra-­‐articular features were compared using the Chi-­‐ Squared test. A second cohort of 76 AS patients were assessed using multiple linear regression analysis of serial radiographic assessments and SNPs from three genes related to smoking metabolism. Results No association was found between having UGT2B17 CNV 2 and IBD (p-value = 0.155), psoriasis (p-value = 0.481), uveitis (p-value = 0.466) or HLA-B*27 positivity (pvalue = 0.118). Two SNPs from CHRNA7 were associated with radiographic severity: rs11071593 and rs7178176 (p-value = 0.0005). Two SNPs from CHRNA7 were associated with radiographic progression: rs2337506 and rs12910885 (p-value < 0.0001). Conclusion No association was found between UGT2B17 CNVs and disease expression; however, we have demonstrated an association between CHRNA7 SNPs and AS radiographic severity and progression.

Item Type: Thesis (Masters)
URI: http://research.library.mun.ca/id/eprint/12491
Item ID: 12491
Additional Information: Includes bibliographical references (pages 76-91).
Keywords: Ankylosing Spondylitis, Genetics, Radiographic progression, Extra-articular features, UGT2B17
Department(s): Medicine, Faculty of
Date: May 2017
Date Type: Submission
Library of Congress Subject Heading: Ankylosing spondylitis -- Genetic aspects
Medical Subject Heading: Spondylitis -- genetics

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