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Modeling the effect of PTPN22 in rheumatoid arthritis.

Abstract : ABSTRACT : In order to model the effect of PTPN22 on rheumatoid arthritis (RA), we determined the combination of single-nucleotide-polymorphisms (SNPs) showing the strongest association with RA. Three SNPs (rs2476601-rs12730735-rs11102685) were selected for which we estimated the genotypic relative risks (GRRs) of the corresponding genotypes. On the basis of these GRRs we defined four at-risk genotypic classes. Relative to the class of reference risk, individuals had a risk approximately multiplied by two, three, or four. This classification was confirmed by the excess of identity-by-descent (IBD) sharing (IBD = 2) for the sibs of an index in the high-risk class and by excess of non-IBD sharing (IBD = 0) when the index belonged to the low-risk class. The observed data could not be explained by the role of a single variant but were compatible either with a joint effect of the three typed SNPs of PTPN22 on RA or with the role of two untyped variants.
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Contributor : Christine Vaillant <>
Submitted on : Thursday, March 27, 2008 - 10:05:51 AM
Last modification on : Tuesday, January 19, 2021 - 11:08:22 AM
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  • HAL Id : inserm-00144409, version 1
  • PUBMED : 18466535


Mathieu Bourgey, Hervé Perdry, Françoise Clerget-Darpoux. Modeling the effect of PTPN22 in rheumatoid arthritis.. BMC Proceedings, BioMed Central, 2007, 1 Suppl 1 (Suppl1), pp.S37. ⟨inserm-00144409⟩



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