Association of the BANK1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry

Original Research

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Authors: Struan FA Grant, Michelle Petri, Jonathan P Bradfield, Cecilia E Kim, Erin Santa, et al

Published Date December 2008 Volume 2009:2 Pages 1 - 5

DOI: http://dx.doi.org/10.2147/TACG.S4089

Struan FA Grant^1,2,3, Michelle Petri⁴, Jonathan P Bradfield¹, Cecilia E Kim¹, Erin Santa¹, Kiran Annaiah¹, Edward C Frackelton¹, Joseph T Glessner¹, F George Otieno¹, Julie L Shaner¹, Ryan M Smith¹, Andrew W Eckert¹, Rosetta M Chiavacci¹, Marcin Imielinski¹, Kathleen E Sullivan⁵, Hakon Hakonarson^1,2,3

¹Center for Applied Genomics, Abramson Research Center, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA; ²Department of Pediatrics and Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA; ³Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA; ⁴Division of Rheumatology, Johns Hopkins School of Medicine, Baltimore, MD, USA; ⁵Division of Allergy and Immunology, Abramson Research Center, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA

Abstract: Recently an association was demonstrated between the single nucleotide polymorphism (SNP), rs10516487, within the B-cell gene BANK1 and systemic lupus erythematosus (SLE) as a consequence of a genome wide association study of this disease in European and Argentinean populations. In a bid for replication, we examined the effects of the R61H non-synonymous variant with respect to SLE in our genotyped American cohorts of European and African ancestry. Utilizing data from our ongoing genome-wide association study in our cohort of 178 Caucasian SLE cases and 1808 Caucasian population-based controls plus 148 African American (AA) SLE cases and 1894 AA population-based controls we investigated the association of the previously described non-synonymous SNP at the BANK1 locus with the disease in the two ethnicities separately. Using a Fisher’s exact test, the minor allele frequency (MAF) of rs10516487 in the Caucasian cases was 22.6% while it was 31.2% in Caucasian controls, yielding a protective odds ratio (OR) of 0.64 (95% CI 0.49–0.85; one-sided p = 7.07 × 10⁻⁴). Furthermore, the MAF of rs10516487 in the AA cases was 18.7% while it was 23.3% in AA controls, yielding a protective OR of 0.75 (95% CI 0.55–1.034; one-sided p = 0.039). The OR of the BANK1 variant in our study cohorts is highly comparable with that reported previously in a South American/European SLE case-control cohort (OR = 0.72). As such, R61H in the BANK1 gene confers a similar magnitude of SLE protection, not only in European Americans, but also in African Americans.

Keywords: systemic lupus erythematosus, African Americans, European Americans, BANK1 gene

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