A 129‐kb Deletion on Chromosome 12 Confers Substantial Protection Against Rheumatoid Arthritis, Implicating the Gene SLC2A3. Issue 2 (2nd December 2013)

• Record Type: Journal Article
• Authors: Veal, Colin D.; Reekie, Katherine E.; Lorentzen, Johnny C.; Gregersen, Peter K.; Padyukov, Leonid; Brookes, Anthony J.
• Is Part Of: Human mutation. Volume 35:Issue 2(2014:Feb.)
• Page Start: 248
• Page End: 256
• Publication Date: 2013-12-02
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22471
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22471-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We describe a copy number variant for which deletion alleles confer a protective affect against Rheumatoid Arthritis. Genotyping in Swedish samples (2403 cases, 1269 controls) revealed a significantly lower frequency of deletion variants in RA cases (<italic>p</italic> = 0.0012). A similar reduction was seen in UK and US samples, combining the three datasets produces a Mantel–Haenszel OR of 0.497 (<italic>p</italic> &lt; 0.0002). The deletion spans <italic>SLC2A3</italic>, a high affinity glucose transporter important in the immune response and chondrocyte metabolism, key aspects of RA pathogenesis <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg407qd9x1" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>