OBJECTIVE: To replicate and refine the reported association of ankylosing spondylitis (AS) with two non-synonymous single nucleotide polymorphisms (nsSNPs) on chromosome 16q22.1. METHODS: Firstly, 730 independent UK patients with AS were genotyped for rs9939768 and rs6979 and allele frequencies were compared with 2879 previously typed historic disease controls. Secondly, the two data sets were combined in meta-analyses. Finally, 5 tagging SNPs, located between rs9939768 and rs6979, were analysed in 1604 cases and 1020 controls. RESULTS: The association of rs6979 with AS was replicated, p=0.03, OR=1.14 (95% CI 1.01 to 1.28), and a trend for association with rs9939768 detected, p=0.06, OR=1.25 (95% CI 0.99 to 1.57). Meta-analyses revealed association of both SNPs with AS, p=0.0008, OR=1.31 (95% CI 1.12 to 1.54) and p=0.0009, OR=1.15 (95% CI 1.06 to 1.23) for rs9939768 and rs6979, respectively. New associations with rs9033 and rs868213 (p=0.00002, OR=1.23 (95% CI 1.12 to 1.36) and p=0.00002 OR=1.45 (95% CI 1.22 to 1.72), respectively, were identified. CONCLUSIONS: The region on chromosome 16 that has been replicated in the present work is interesting as the highly plausible candidate gene, tumour necrosis factor receptor type 1 (TNFR1)-associated death domain (TRADD), is located between rs9033 and rs868213. It will require additional work to identify the primary genetic association(s) with AS.
OBJECTIVE: To replicate and refine the reported association of ankylosing spondylitis (AS) with two non-synonymous single nucleotide polymorphisms (nsSNPs) on chromosome 16q22.1. METHODS: Firstly, 730 independent UK patients with AS were genotyped for rs9939768 and rs6979 and allele frequencies were compared with 2879 previously typed historic disease controls. Secondly, the two data sets were combined in meta-analyses. Finally, 5 tagging SNPs, located between rs9939768 and rs6979, were analysed in 1604 cases and 1020 controls. RESULTS: The association of rs6979 with AS was replicated, p=0.03, OR=1.14 (95% CI 1.01 to 1.28), and a trend for association with rs9939768 detected, p=0.06, OR=1.25 (95% CI 0.99 to 1.57). Meta-analyses revealed association of both SNPs with AS, p=0.0008, OR=1.31 (95% CI 1.12 to 1.54) and p=0.0009, OR=1.15 (95% CI 1.06 to 1.23) for rs9939768 and rs6979, respectively. New associations with rs9033 and rs868213 (p=0.00002, OR=1.23 (95% CI 1.12 to 1.36) and p=0.00002 OR=1.45 (95% CI 1.22 to 1.72), respectively, were identified. CONCLUSIONS: The region on chromosome 16 that has been replicated in the present work is interesting as the highly plausible candidate gene, tumour necrosis factor receptor type 1 (TNFR1)-associated death domain (TRADD), is located between rs9033 and rs868213. It will require additional work to identify the primary genetic association(s) with AS.
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Authors: S H Laval; A Timms; S Edwards; L Bradbury; S Brophy; A Milicic; L Rubin; K A Siminovitch; D E Weeks; A Calin; B P Wordsworth; M A Brown Journal: Am J Hum Genet Date: 2001-02-27 Impact factor: 11.025
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Authors: David M Evans; Chris C A Spencer; Jennifer J Pointon; Zhan Su; David Harvey; Grazyna Kochan; Udo Oppermann; Udo Opperman; Alexander Dilthey; Matti Pirinen; Millicent A Stone; Louise Appleton; Loukas Moutsianas; Loukas Moutsianis; Stephen Leslie; Tom Wordsworth; Tony J Kenna; Tugce Karaderi; Gethin P Thomas; Michael M Ward; Michael H Weisman; Claire Farrar; Linda A Bradbury; Patrick Danoy; Robert D Inman; Walter Maksymowych; Dafna Gladman; Proton Rahman; Ann Morgan; Helena Marzo-Ortega; Paul Bowness; Karl Gaffney; J S Hill Gaston; Malcolm Smith; Jacome Bruges-Armas; Ana-Rita Couto; Rosa Sorrentino; Fabiana Paladini; Manuel A Ferreira; Huji Xu; Yu Liu; Lei Jiang; Carlos Lopez-Larrea; Roberto Díaz-Peña; Antonio López-Vázquez; Tetyana Zayats; Gavin Band; Céline Bellenguez; Hannah Blackburn; Jenefer M Blackwell; Elvira Bramon; Suzannah J Bumpstead; Juan P Casas; Aiden Corvin; Nicholas Craddock; Panos Deloukas; Serge Dronov; Audrey Duncanson; Sarah Edkins; Colin Freeman; Matthew Gillman; Emma Gray; Rhian Gwilliam; Naomi Hammond; Sarah E Hunt; Janusz Jankowski; Alagurevathi Jayakumar; Cordelia Langford; Jennifer Liddle; Hugh S Markus; Christopher G Mathew; Owen T McCann; Mark I McCarthy; Colin N A Palmer; Leena Peltonen; Robert Plomin; Simon C Potter; Anna Rautanen; Radhi Ravindrarajah; Michelle Ricketts; Nilesh Samani; Stephen J Sawcer; Amy Strange; Richard C Trembath; Ananth C Viswanathan; Matthew Waller; Paul Weston; Pamela Whittaker; Sara Widaa; Nicholas W Wood; Gilean McVean; John D Reveille; B Paul Wordsworth; Matthew A Brown; Peter Donnelly Journal: Nat Genet Date: 2011-07-10 Impact factor: 38.330
Authors: Merlijn H Kaaij; Melissa N van Tok; Iris C Blijdorp; Carmen A Ambarus; Michael Stock; Désiree Pots; Véronique L Knaup; Marietta Armaka; Eleni Christodoulou-Vafeiadou; Tessa K van Melsen; Huriatul Masdar; Harry J P P Eskes; Nataliya G Yeremenko; George Kollias; Georg Schett; Sander W Tas; Leonie M van Duivenvoorde; Dominique L P Baeten Journal: J Exp Med Date: 2020-10-05 Impact factor: 14.307