@article{ee0792abb0f042c4bc98606f001b9cb1,
title = "Replication of the BANK1 genetic association with systemic lupus erythematosus in a European-derived population",
abstract = "Systemic lupus erythematosus (SLE) is an autoimmune disease with highly variable clinical presentation. Patients suffer from immunological abnormalities that target T-cell, B-cell and accessory cell functions. B cells are hyperactive in SLE patients. An adapter protein expressed in B cells called BANK1 (B-cell scaffold protein with ankyrin repeats) was reported in a previous study to be associated with SLE in a European population. The objective of this study was to assess the BANK1 genotype-phenotype association in an independent replication sample. We genotyped 38 single nucleotide polymorphisms (SNPs) in BANK1 on 1892 European-derived SLE patients and 2652 European-derived controls. The strongest associations with SLE and BANK1 were at rs17266594 (corrected P-value = 1.97 × 10-5, odds ratio (OR) = 1.22, 95% CI 1.12-1.34) and rs10516487 (corrected P-value = 2.59 × 10-5, OR = 1.22, 95% CI 1.11-1.34). Our findings suggest that the association is explained by these two SNPs, confirming previous reports that these polymorphisms contribute to the risk of developing lupus. Analysis of patient subsets enriched for hematological, immunological and renal ACR criteria or the levels of autoantibodies, such as anti-RNP A and anti-SmRNP, uncovers additional BANK1 associations. Our results suggest that BANK1 polymorphisms alter immune system development and function to increase the risk for developing lupus.",
author = "L. Guo and H. Deshmukh and R. Lu and Vidal, {G. S.} and Kelly, {J. A.} and Kaufman, {K. M.} and N. Dominguez and W. Klein and X. Kim-Howard and Bruner, {G. R.} and Scofield, {R. H.} and Moser, {K. L.} and Gaffney, {P. M.} and Dozmorov, {I. M.} and Gilkeson, {G. S.} and Wakeland, {E. K.} and Li, {Q. Z.} and Langefeld, {C. D.} and Marion, {M. C.} and Williams, {A. H.} and J. Divers and Alarc{\'o}n, {G. S.} and Brown, {E. E.} and Kimberly, {R. P.} and Edberg, {J. C.} and R. Ramsey-Goldman and Reveille, {J. D.} and G. McGwin and Vil{\'a}, {L. M.} and Petri, {M. A.} and Vyse, {T. J.} and Merrill, {J. T.} and James, {J. A.} and Nath, {S. K.} and Harley, {J. B.} and Guthridge, {J. M.}",
note = "Funding Information: Support: This project was funded by National Institutes of Health RR020143 (JMG and JBH), RR015577 (JMG, JBH, JAJ), HHSN266200500026C (JMG and JAJ), AR053483 (JMG, SKN and JAJ), AI063274 (PMG), AI031584 (JBH, JMG, JAJ), AR052125 (PMG), AR043247 (KLM), Kirkland Scholar awards (JBH and JAJ), AR049084 (SKN, JBH, RPK), AR42460 (JBH), AR12253 (JBH), AR62277 (JBH), AI24717 (JBH), AR48940 (JBH, JAJ), Alliance for Lupus Research (JBH), the US Department of Veterans Affairs (JBH) and OHRS award for project number HR08-037 from the Oklahoma Center for the Advancement of Science and Technology (JMG). Dr Harley has received consulting fees, speaking fees and/ or director{\textquoteright}s fees from Bio-Rad Laboratories; Merck; UCB Inc.; ImmunoVision Inc.; IVAX Diagnostics and JK Autoimmunity and owns stock or stock options in IVAX Diagnostics.",
year = "2009",
doi = "10.1038/gene.2009.18",
language = "English (US)",
volume = "10",
pages = "531--538",
journal = "Genes and Immunity",
issn = "1466-4879",
publisher = "Nature Publishing Group",
number = "5",
}