Article
A single nucleotide polymorphism genetic risk score to aid diagnosis of coeliac disease: a pilot study in clinical care.
Alimentary pharmacology & therapeutics - 1 Oct 2020
Sharp Seth A, Jones Samuel E, Kimmitt Robert A, Weedon Michael N, Halpin Anne M, Wood Andrew R, Beaumont Robin N, King Seema, van Heel David A, Campbell Patricia M, Hagopian William A, Turner Justine M, Oram Richard A
Abstract excerpt
BACKGROUND: Single nucleotide polymorphism-based genetic risk scores (GRS) model genetic risk as a continuum and can discriminate coeliac disease but have not been validated in clinic. Human leukocyte antigen (HLA) DQ gene testing is available in clinic but does not include non-HLA attributed risk and is limited by discrete risk stratification. AIMS: To accurately characterise both HLA and non-HLA coeliac disease...
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