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http://purl.uniprot.org/citations/20975833http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/20975833http://www.w3.org/2000/01/rdf-schema#comment"

Objectives

The Trp(620) allotype of PTPN22 confers susceptibility to rheumatoid arthritis (RA) and certain other classical autoimmune diseases. There has been a report of other variants within the PTPN22 locus that alter risk of RA; protective haplotype '5', haplotype group '6-10' and susceptibility haplotype '4', suggesting the possibility of other PTPN22 variants involved in the pathogenesis of RA independent of R620W (rs2476601). Our aim was to further investigate this possibility.

Methods

A total of 4,460 RA cases and 4,481 controls, all European, were analysed. Single nucleotide polymorphisms rs3789607, rs12144309, rs3811021 and rs12566340 were genotyped over New Zealand (NZ) and UK samples. Publically-available Wellcome Trust Case Control Consortium (WTCCC) genotype data were used.

Results

The protective effect of haplotype 5 was confirmed (rs3789607; (OR = 0.91, P = 0.016), and a second protective effect (possibly of haplotype 6) was observed (rs12144309; OR = 0.90, P = 0.021). The previously reported susceptibility effect of haplotype 4 was not replicated; instead a protective effect was observed (rs3811021; OR = 0.85, P = 1.4×10(-5)). Haplotypes defined by rs3789607, rs12144309 and rs3811021 coalesced with the major allele of rs12566340 within the adjacent BFK (B-cell lymphoma 2 (BCL2) family kin) gene. We, therefore, tested rs12566340 for association with RA conditional on rs2476601; there was no evidence for an independent effect at rs12566340 (P = 0.76). Similarly, there was no evidence for an independent effect at rs12566340 in type 1 diabetes (P = 0.85).

Conclusions

We have no evidence for a common variant additional to rs2476601 within the PTPN22 locus that influences the risk of RA. Arg620Trp is almost certainly the single common causal variant."xsd:string
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http://purl.uniprot.org/citations/20975833http://purl.uniprot.org/core/author"Todd J.A."xsd:string
http://purl.uniprot.org/citations/20975833http://purl.uniprot.org/core/author"Stamp L."xsd:string
http://purl.uniprot.org/citations/20975833http://purl.uniprot.org/core/author"Jones P.B."xsd:string
http://purl.uniprot.org/citations/20975833http://purl.uniprot.org/core/author"Merriman M.E."xsd:string
http://purl.uniprot.org/citations/20975833http://purl.uniprot.org/core/author"Smyth D.J."xsd:string
http://purl.uniprot.org/citations/20975833http://purl.uniprot.org/core/author"Steer S."xsd:string
http://purl.uniprot.org/citations/20975833http://purl.uniprot.org/core/author"Merriman T.R."xsd:string
http://purl.uniprot.org/citations/20975833http://purl.uniprot.org/core/author"Dalbeth N."xsd:string
http://purl.uniprot.org/citations/20975833http://purl.uniprot.org/core/author"Gow P.J."xsd:string
http://purl.uniprot.org/citations/20975833http://purl.uniprot.org/core/author"Harrison A.A."xsd:string
http://purl.uniprot.org/citations/20975833http://purl.uniprot.org/core/author"Highton J."xsd:string
http://purl.uniprot.org/citations/20975833http://purl.uniprot.org/core/author"Wan Taib W.R."xsd:string
http://purl.uniprot.org/citations/20975833http://purl.uniprot.org/core/date"2010"xsd:gYear
http://purl.uniprot.org/citations/20975833http://purl.uniprot.org/core/name"PLoS One"xsd:string
http://purl.uniprot.org/citations/20975833http://purl.uniprot.org/core/pages"e13544"xsd:string
http://purl.uniprot.org/citations/20975833http://purl.uniprot.org/core/title"The PTPN22 locus and rheumatoid arthritis: no evidence for an effect on risk independent of Arg620Trp."xsd:string
http://purl.uniprot.org/citations/20975833http://purl.uniprot.org/core/volume"5"xsd:string
http://purl.uniprot.org/citations/20975833http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/20975833
http://purl.uniprot.org/citations/20975833http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/20975833
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http://purl.uniprot.org/uniprot/#_A0A1Q2XD95-mappedCitation-20975833http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/20975833
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