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. 2016 Apr;16(2):137-40.
doi: 10.1038/tpj.2015.29. Epub 2015 Apr 21.

Replication of PTPRC as genetic biomarker of response to TNF inhibitors in patients with rheumatoid arthritis

A Ferreiro-Iglesias  1 , A Montes  1 , E Perez-Pampin  1 , J D Cañete  2 , E Raya  3 , C Magro-Checa  3 , Y Vasilopoulos  4 , T Sarafidou  4 , R Caliz  5 , M A Ferrer  5 , B Joven  6 , P Carreira  6 , A Balsa  7 , D Pascual-Salcedo  8 , F J Blanco  9   10 , M J Moreno-Ramos  11 , A Fernández-Nebro  12 , M C Ordóñez  12 , J J Alegre-Sancho  13 , J Narváez  14 , F Navarro-Sarabia  15 , V Moreira  15 , L Valor  16 , R García-Portales  17 , A Marquez  18 , J Martin  18 , J J Gómez-Reino  1   10 , A Gonzalez  1
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Replication of PTPRC as genetic biomarker of response to TNF inhibitors in patients with rheumatoid arthritis

A Ferreiro-Iglesias et al. Pharmacogenomics J. 2016 Apr.

Abstract

Genetic biomarkers could be useful for orienting treatment of patients with rheumatoid arthritis (RA), but none has been convincingly validated yet. Putative biomarkers include 14 single nucleotide polymorphisms that have shown association with response to TNF inhibitors (TNFi) in candidate gene studies and that we assayed here in 755 RA patients. Three of them, in the PTPRC, IL10 and CHUK genes, were significantly associated with response to TNFi. The most significant result was obtained with rs10919563 in PTPRC, which is a confirmed RA susceptibility locus. Its RA risk allele was associated with improved response (B=0.33, P=0.006). This is the second independent replication of this biomarker (P=9.08 × 10(-8) in the combined 3003 RA patients). In this way, PTPRC has become the most replicated genetic biomarker of response to TNFi. In addition, the positive but weaker replication of IL10 and CHUK should stimulate further validation studies.

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