A nonsynonymous functional variant in integrin-αM (encoded by ITGAM) is associated with systemic lupus erythematosus

Swapan K. Nath, Shizhong Han, Xana Kim-Howard, Jennifer A. Kelly, Parvathi Viswanathan, Gary S. Gilkeson, Wei Chen, Cheng Zhu, Rodger P. McEver, Robert P. Kimberly, Marta E. Alarcón-Riquelme, Timothy J. Vyse, Quan Zhen Li, Edward K. Wakeland, Joan T. Merrill, Judith A. James, Kenneth M. Kaufman, Joel M. Guthridge, John B. Harley

Research output: Contribution to journalArticle

232 Scopus citations

Abstract

We identified and replicated an association between ITGAM (CD11b) at 16p11.2 and risk of systemic lupus erythematosus (SLE) in 3,818 individuals of European descent. The strongest association was at a nonsynonymous SNP, rs1143679 (P = 1.7 × 10-17, odds ratio = 1.78). We further replicated this association in two independent samples of individuals of African descent (P = 0.0002 and 0.003; overall meta-analysis P = 6.9 × 10 -22). The genetic association between ITGAM and SLE implicates the αMβ2-integrin adhesion pathway in disease development.

Original languageEnglish (US)
Pages (from-to)152-154
Number of pages3
JournalNature genetics
Volume40
Issue number2
DOIs
StatePublished - Feb 1 2008

ASJC Scopus subject areas

  • Genetics

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    Nath, S. K., Han, S., Kim-Howard, X., Kelly, J. A., Viswanathan, P., Gilkeson, G. S., Chen, W., Zhu, C., McEver, R. P., Kimberly, R. P., Alarcón-Riquelme, M. E., Vyse, T. J., Li, Q. Z., Wakeland, E. K., Merrill, J. T., James, J. A., Kaufman, K. M., Guthridge, J. M., & Harley, J. B. (2008). A nonsynonymous functional variant in integrin-αM (encoded by ITGAM) is associated with systemic lupus erythematosus. Nature genetics, 40(2), 152-154. https://doi.org/10.1038/ng.71