Genetic screening algorithm for inflammatory back pain

Power, Rebecca Joy (2018) Genetic screening algorithm for inflammatory back pain. Masters thesis, Memorial University of Newfoundland.

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Objective: To develop a single nucleotide polymorphism (SNP) based genetic-based algorithm among patients with low back pain to screen for axial spondyloarthritis (SpA). Methods: An 18-plex genetic assay was designed using a MassARRAY, consisting of SNPs associated with ankylosing spondylitis (AS), psoriasis, inflammatory bowel disease (IBD) and uveitis. 1172 AS cases and 848 controls have been analyzed over two cohorts. A machine learning algorithm was created using a J48/C4.5 decision tree model; the first decision was human leukocyte antigen B 27 (HLA-B*27) status. The initial algorithm was validated in an independent cohort. The discovery and validation cohorts were then combined and the final genetic-based screening algorithm was weighted. Results: The SNP based algorithm that included HLA-B*27 positivity had a precision, specificity and sensitivity of; 0.83, 0.83, and 0.80, respectively which is higher than the current HLA-B*27 based Assessment of Spondyloarthritis International Society (ASAS) classification criteria. The SNP based algorithm that included HLA-B*27 negativity had a precision, specificity and sensitivity of, 0.58, 0.32, and 0.69, respectively. Conclusions: This genetic screening algorithm is inexpensive, out performs the clinical arm of the current ASAS classification criteria and can potentially lead to earlier detection of axial SpA.

Item Type: Thesis (Masters)
Item ID: 13033
Additional Information: Includes bibliographical references (pages 181-193).
Keywords: axial spondyloarthritis, machine learning, genetic screening, back pain, diagnostic screening, ankylosing spondylitis
Department(s): Medicine, Faculty of > Clinical Disciplines > Genetics
Date: May 2018
Date Type: Submission
Digital Object Identifier (DOI):
Medical Subject Heading: Polymorphism, Single Nucleotide; Spondylitis, Ankylosing--complications; Low Back Pain; HLA-B Antigens

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