OBJECTIVE: To investigate single-nucleotide polymorphisms (SNPs) across the PTPN22 gene region in a UK cohort of patients with rheumatoid arthritis (RA), to look for evidence of disease associations independent of the well-characterised R620W variant (rs2476601). METHODS: 951 RA cases in the UK satisfying American Rheumatism Association (ARA) criteria and 448 population controls were genotyped for 11 SNPs across the PTPN22 gene region using the Sequenom MassArray MassEXTEND technology. Allele, genotype and estimated haplotype frequencies of cases and controls were compared. RESULTS: In addition to the R620W (rs2476601) SNP, three SNPs were associated with RA in this study. The sole haplotype on which the associated T allele of R620W occurred was associated with RA; no other haplotypes showed a significant difference in frequencies between RA cases and controls. CONCLUSION: In contrast with a study of American patients with RA no evidence of association with PTPN22 independent of the well-characterised R620W variant was found, suggesting that in these patients this variant alone explains the association with the PTPN22 gene.
OBJECTIVE: To investigate single-nucleotide polymorphisms (SNPs) across the PTPN22 gene region in a UK cohort of patients with rheumatoid arthritis (RA), to look for evidence of disease associations independent of the well-characterised R620W variant (rs2476601). METHODS: 951 RA cases in the UK satisfying American Rheumatism Association (ARA) criteria and 448 population controls were genotyped for 11 SNPs across the PTPN22 gene region using the Sequenom MassArray MassEXTEND technology. Allele, genotype and estimated haplotype frequencies of cases and controls were compared. RESULTS: In addition to the R620W (rs2476601) SNP, three SNPs were associated with RA in this study. The sole haplotype on which the associated T allele of R620W occurred was associated with RA; no other haplotypes showed a significant difference in frequencies between RA cases and controls. CONCLUSION: In contrast with a study of American patients with RA no evidence of association with PTPN22 independent of the well-characterised R620W variant was found, suggesting that in these patients this variant alone explains the association with the PTPN22 gene.
Authors: F C Arnett; S M Edworthy; D A Bloch; D J McShane; J F Fries; N S Cooper; L A Healey; S R Kaplan; M H Liang; H S Luthra Journal: Arthritis Rheum Date: 1988-03
Authors: Anne Hinks; Anne Barton; Sally John; Ian Bruce; Clive Hawkins; Christopher E M Griffiths; Rachelle Donn; Wendy Thomson; Alan Silman; Jane Worthington Journal: Arthritis Rheum Date: 2005-06
Authors: Ann B Begovich; Victoria E H Carlton; Lee A Honigberg; Steven J Schrodi; Anand P Chokkalingam; Heather C Alexander; Kristin G Ardlie; Qiqing Huang; Ashley M Smith; Jill M Spoerke; Marion T Conn; Monica Chang; Sheng-Yung P Chang; Randall K Saiki; Joseph J Catanese; Diane U Leong; Veronica E Garcia; Linda B McAllister; Douglas A Jeffery; Annette T Lee; Franak Batliwalla; Elaine Remmers; Lindsey A Criswell; Michael F Seldin; Daniel L Kastner; Christopher I Amos; John J Sninsky; Peter K Gregersen Journal: Am J Hum Genet Date: 2004-06-18 Impact factor: 11.025
Authors: César A Hidalgo; Nicholas Blumm; Albert-László Barabási; Nicholas A Christakis Journal: PLoS Comput Biol Date: 2009-04-10 Impact factor: 4.475
Authors: Wan R Wan Taib; Deborah J Smyth; Marilyn E Merriman; Nicola Dalbeth; Peter J Gow; Andrew A Harrison; John Highton; Peter B B Jones; Lisa Stamp; Sophia Steer; John A Todd; Tony R Merriman Journal: PLoS One Date: 2010-10-21 Impact factor: 3.240
Authors: Annie McClure; Mark Lunt; Steve Eyre; Xiayi Ke; Wendy Thomson; Anne Hinks; John Bowes; Laura Gibbons; Darren Plant; Anthony G Wilson; Ioanna Marinou; Ann W Morgan; Paul Emery; Sophia Steer; Lynne J Hocking; David M Reid; Paul Wordsworth; Pille Harrison; Jane Worthington; Anne Barton Journal: Rheumatology (Oxford) Date: 2009-09-09 Impact factor: 7.580
Authors: Isabela Goeldner; Thelma L Skare; Shirley R Utiyama; Renato M Nisihara; Hoang van Tong; Iara J T Messias-Reason; Thirumalaisamy P Velavan Journal: PLoS One Date: 2014-04-21 Impact factor: 3.240