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Prediction of ankylosing spondylitis in the HUNT study by a genetic risk score combining 110 single-nucleotide polymorphisms of genome-wide significance

The Journal of Rheumatology Feb 13, 2020

Rostami S, Hoff M, Brown MA, et al. - The intent of this study was to construct a weighted genetic risk score (wGRS) applying currently known genome-wide susceptibility single-nucleotide polymorphisms (SNP), and to assess its predictive ability for ankylosing spondylitis (AS) in the Norwegian population-based Nord-Trøndelag Health Study (HUNT). The study population was consisted of AS cases (n = 164) and controls (n = 49,032) were from the second (1995–1997) and third (2006–2008) waves of the HUNT study. The wGRS was correlated with AS but noted low discrimination. A significant correlation was found between HLA-B27 and AS, showing high discrimination. Although the improvement was small and of uncertain clinical value, prediction in a population-based setting based on all currently known AS susceptibility SNP was better than the HLA-B27 carrier state alone.
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