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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
general
Epistatic Interaction between BANK1 and BLK in Rheumatoid Arthritis: Results from a Large Trans-Ethnic Meta-Analysis
PLoS ONE, Volume 8, No. 4, Article e61044, Year 2013
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Description
Background:BANK1 and BLK belong to the pleiotropic autoimmune genes; recently, epistasis between BANK1 and BLK was detected in systemic lupus erythematosus. Although BLK has been reproducibly identified as a risk factor in rheumatoid arthritis (RA), reports are conflicting about the contribution of BANK1 to RA susceptibility. To ascertain the real impact of BANK1 on RA genetic susceptibility, we performed a large meta-analysis including our original data and tested for an epistatic interaction between BANK1 and BLK in RA susceptibility.Patients and Methods:We investigated data for 1,915 RA patients and 1,915 ethnically matched healthy controls genotyped for BANK1 rs10516487 and rs3733197 and BLK rs13277113. The association of each SNP and RA was tested by logistic regression. Multivariate analysis was then used with an interaction term to test for an epistatic interaction between the SNPs in the 2 genes.Results:None of the SNPs tested individually was significantly associated with RA in the genotyped samples. However, we detected an epistatic interaction between BANK1 rs3733197 and BLK rs13277113 (Pinteraction = 0.037). In individuals carrying the BLK rs13277113 GG genotype, presence of the BANK1 rs3733197 G allele increased the risk of RA (odds ratio 1.21 [95% confidence interval 1.04-1.41], P = 0.015. Combining our results with those of all other studies in a large trans-ethnic meta-analysis revealed an association of the BANK1 rs3733197 G allele and RA (1.11 [1.02-1.21], P = 0.012).Conclusion:This study confirms BANK1 as an RA susceptibility gene and for the first time provides evidence for epistasis between BANK1 and BLK in RA. Our results illustrate the concept of pleiotropic epistatic interaction, suggesting that BANK1 and BLK might play a role in RA pathogenesis. © 2013 Génin et al.
Authors & Co-Authors
Geńin, Emmanuelle
France, Paris
Université Paris Cité
Allanore, Yannick
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
France, Paris
Hopital Cochin Ap-hp
Schaeverbeke, Thierry
France, Bordeaux
Université de Bordeaux
Ruyssen-Witrand, Adeline
France, Toulouse
Université Toulouse Iii - Paul Sabatier
Cantagrel, Alain G.
France, Toulouse
Université Toulouse Iii - Paul Sabatier
Vittecoq, Olivier
France, Mont-saint-aignan
Université de Rouen Normandie
Fardellone, Patrice
France, Amiens
Chu Amiens Picardie
Meyer, Oliver C.
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Fernàndez-Gutiérrez, Benjamín
Spain, Madrid
Hospital Clínico San Carlos
Balsa, Alejando
Spain, Madrid
Hospital Universitario la Paz
González-Gay, Miguel Ángel
Spain, Santander
Hospital Universitario Marqués de Valdecilla
Chiocchia, G.
France, Paris
Hopital Cochin Ap-hp
Martin, Javier
Spain, Madrid
Consejo Superior de Investigaciones Científicas
Dieudé, Philippe
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
France, Paris
Université Paris Cité
Statistics
Citations: 24
Authors: 14
Affiliations: 13
Identifiers
Doi:
10.1371/journal.pone.0061044
ISSN:
19326203
Research Areas
Genetics And Genomics
Study Design
Case-Control Study
Study Approach
Systematic review