BACKGROUND: Chromosomal region 16p13 has been reported to harbour variants associated with several autoimmune diseases, including type I diabetes, rheumatoid arthritis and multiple sclerosis. OBJECTIVE: To test whether variants in the 16p13 region are also associated with systemic lupus erythematosus (SLE) by performing a candidate locus study in the Chinese Han population. METHODS: Tag single nucleotide polymorphisms (SNPs) encompassing 50 kb upstream and downstream of the 250 kb linkage disequilibrium block, previously implicated in several autoimmune diseases, were analysed in 1047 patients with SLE and 1205 controls. The SNP showing the strongest association with SLE was then replicated in an independent cohort of 1643 cases and 5930 controls. RESULTS AND CONCLUSIONS: The association between SNP rs12599402 and SLE reached the genome-wide significance level (p<5 × 10⁻⁸). The SNP was likely to tag the same functional variant as previously reported in European populations. The results suggested that the chromosomal region at 16p13 contains common susceptibility genes for different immune-mediated disorders.
BACKGROUND: Chromosomal region 16p13 has been reported to harbour variants associated with several autoimmune diseases, including type I diabetes, rheumatoid arthritis and multiple sclerosis. OBJECTIVE: To test whether variants in the 16p13 region are also associated with systemic lupus erythematosus (SLE) by performing a candidate locus study in the Chinese Han population. METHODS: Tag single nucleotide polymorphisms (SNPs) encompassing 50 kb upstream and downstream of the 250 kb linkage disequilibrium block, previously implicated in several autoimmune diseases, were analysed in 1047 patients with SLE and 1205 controls. The SNP showing the strongest association with SLE was then replicated in an independent cohort of 1643 cases and 5930 controls. RESULTS AND CONCLUSIONS: The association between SNP rs12599402 and SLE reached the genome-wide significance level (p<5 × 10⁻⁸). The SNP was likely to tag the same functional variant as previously reported in European populations. The results suggested that the chromosomal region at 16p13 contains common susceptibility genes for different immune-mediated disorders.
Authors: P G Bronson; B A Goldstein; P P Ramsay; K B Beckman; J A Noble; J A Lane; M F Seldin; J A Kelly; J B Harley; K L Moser; P M Gaffney; T W Behrens; L A Criswell; L F Barcellos Journal: Genes Immun Date: 2011-05-26 Impact factor: 2.676
Authors: Lucy J Davison; Chris Wallace; Jason D Cooper; Nathan F Cope; Nicola K Wilson; Deborah J Smyth; Joanna M M Howson; Nada Saleh; Abdullah Al-Jeffery; Karen L Angus; Helen E Stevens; Sarah Nutland; Simon Duley; Richard M R Coulson; Neil M Walker; Oliver S Burren; Catherine M Rice; Francois Cambien; Tanja Zeller; Thomas Munzel; Karl Lackner; Stefan Blakenberg; Peter Fraser; Berthold Gottgens; John A Todd; Tony Attwood; Stephanie Belz; Peter Braund; François Cambien; Jason Cooper; Abi Crisp-Hihn; Patrick Diemert; Panos Deloukas; Nicola Foad; Jeanette Erdmann; Alison H Goodall; Jay Gracey; Emma Gray; Rhian G Williams; Susanne Heimerl; Christian Hengstenberg; Jennifer Jolley; Unni Krishnan; Heather Lloyd-Jones; Ingrid Lugauer; Per Lundmark; Seraya Maouche; Jasbir S Moore; David Muir; Elizabeth Murray; Chris P Nelson; Jessica Neudert; David Niblett; Karen O'Leary; Willem H Ouwehand; Helen Pollard; Angela Rankin; Catherine M Rice; Hendrik Sager; Nilesh J Samani; Jennifer Sambrook; Gerd Schmitz; Michael Scholz; Laura Schroeder; Heribert Schunkert; Ann-Christine Syvannen; Stefanie Tennstedt; Chris Wallace Journal: Hum Mol Genet Date: 2011-10-11 Impact factor: 6.150
Authors: M Joseph Tomlinson; Achilleas Pitsillides; Rebecca Pickin; Matthew Mika; Keith L Keene; Xuanlin Hou; Josyf Mychaleckyj; Wei-Min Chen; Patrick Concannon; Suna Onengut-Gumuscu Journal: Diabetes Date: 2014-07-09 Impact factor: 9.461