Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci (original) (raw)
References
- Danchenko, N., Satia, J.A. & Anthony, M.S. Epidemiology of systemic lupus erythematosus: a comparison of worldwide disease burden. Lupus 15, 308–318 (2006).
Article CAS Google Scholar - Alarcón-Segovia, D. et al. Familial aggregation of systemic lupus erythematosus, rheumatoid arthritis, and other autoimmune diseases in 1,177 lupus patients from the GLADEL cohort. Arthritis Rheum. 52, 1138–1147 (2005).
Article Google Scholar - Deapen, D. et al. A revised estimate of twin concordance in systemic lupus erythematosus. Arthritis Rheum. 35, 311–318 (1992).
Article CAS Google Scholar - James, J.A. et al. An increased prevalence of Epstein-Barr virus infection in young patients suggests a possible etiology for systemic lupus erythematosus. J. Clin. Invest. 100, 3019–3026 (1997).
Article CAS Google Scholar - Tsao, B.P. et al. Evidence for linkage of a candidate chromosome 1 region to human systemic lupus erythematosus. J. Clin. Invest. 99, 725–731 (1997).
Article CAS Google Scholar - Moser, K.L. et al. Genome scan of human systemic lupus erythematosus: evidence for linkage on chromosome 1q in African-American pedigrees. Proc. Natl. Acad. Sci. USA 95, 14869–14874 (1998).
Article CAS Google Scholar - Forabosco, P. et al. Meta-analysis of genome-wide linkage studies of systemic lupus erythematosus. Genes Immun. 7, 609–614 (2006).
Article CAS Google Scholar - Lee, Y.H. & Nath, S.K. Systemic lupus erythematosus susceptibility loci defined by genome scan meta-analysis. Hum. Genet. 118, 434–443 (2005).
Article Google Scholar - Graham, R.R. et al. Specific combinations of HLA-DR2 and DR3 class II haplotypes contribute graded risk for disease susceptibility and autoantibodies in human SLE. Eur. J. Hum. Genet. 15, 823–830 (2007).
Article CAS Google Scholar - Edberg, J.C. et al. Genetic linkage and association of Fcγ receptor IIIA (CD16A) on chromosome 1q23 with human systemic lupus erythematosus. Arthritis Rheum. 46, 2132–2140 (2002).
Article CAS Google Scholar - Duits, A.J. et al. Skewed distribution of IgG Fc receptor IIa (CD32) polymorphism is associated with renal disease in systemic lupus erythematosus patients. Arthritis Rheum. 38, 1832–1836 (1995).
Article CAS Google Scholar - Prokunina, L. et al. A regulatory polymorphism within the PD-1 gene is associated with susceptibility to systemic lupus erythematosus. Nat. Genet. 32, 666–669 (2002).
Article CAS Google Scholar - Sigurdsson, S. et al. Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am. J. Hum. Genet. 76, 528–537 (2005).
Article CAS Google Scholar - Graham, R.R. et al. A common haplotype of the interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. Nat. Genet. 38, 550–555 (2006).
Article CAS Google Scholar - Kyogoku, C. et al. Genetic Association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am. J. Hum. Genet. 75, 504–507 (2004).
Article CAS Google Scholar - Lee-Kirsch, M.A. et al. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat. Genet. 39, 1065–1067 (2007).
Article CAS Google Scholar - Morgan, B.P. & Walport, M.J. Complement deficiency and disease. Immunol. Today 12, 301–306 (1991).
Article CAS Google Scholar - Remmers, E.F. et al. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N. Engl. J. Med. 357, 977–986 (2007).
Article CAS Google Scholar - Luo, B.H., Carman, C.V. & Springer, T.A. Structural basis of integrin regulation and signaling. Annu. Rev. Immunol. 25, 619–647 (2007).
Article CAS Google Scholar - Nath, S.K. et al. A nonsynonymous functional variant in integrin-α-M (ITGAM) is associated with systemic lupus erythematosus (SLE). Nat. Genet. advance online publication, doi:10.1038/ng.71 (20 January 2008).
- Redon, R. et al. Global variation in copy number in the human genome. Nature 444, 444–454 (2006).
Article CAS Google Scholar - Zou, X. et al. Expression pattern and subcellular localization of five splice isoforms of human PXK. Int. J. Mol. Med. 16, 701–707 (2005).
CAS PubMed Google Scholar - Thompson, I.M. et al. Operating characteristics of prostate-specific antigen in men with an initial PSA level of 3.0 ng/ml or lower. J. Am. Med. Assoc. 294, 66–70 (2005).
Article CAS Google Scholar - Risch, N. Linkage strategies for genetically complex traits. II. The power of affected relative pairs. Am. J. Hum. Genet. 46, 229–241 (1990).
CAS PubMed PubMed Central Google Scholar - Hochberg, M.C. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum. 40, 1725 (1997).
Article CAS Google Scholar - Rioux, J.D. et al. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat. Genet. 39, 596–604 (2007).
Article CAS Google Scholar - Mitchell, M.K. et al. The New York Cancer Project: rationale, organization, design, and baseline characteristics. J. Urban Health 81, 301–310 (2004).
Article Google Scholar - Price, A.L. et al. Principal components analysis corrects for stratification in genome-wide association studies. Nat. Genet. 38, 904–909 (2006).
Article CAS Google Scholar - Narayanaswamy, C.R. & Raghavarao, D. Principal component analysis for large dispersion matrices. App. Stat. 40, 309–316 (1991).
Article Google Scholar
Acknowledgements
SLEGEN appreciates the financial support of the Alliance for Lupus Research. Other support was obtained individually from the Alliance for Lupus Research (J.B.H., K.L.M., C.O.J.), the US National Institutes of Health (grants RR020278 (S.B.G.), AR62277 (J.B.H.), RR020143 (J.B.H.), AR24260 (J.B.H.), AI24717 (J.B.H.), AR22804 (L.A.C.), AR02175 (L.A.C.), AR052300 (L.A.C.), AR43815 (C.O.J.), AR49084 (R.P.K.), AR33062 (R.P.K.), AR43247 (K.L.M.) and AR43814 (B.P.T.)), the Mary Kirkland Awards (J.B.H., L.A.C.), the US Department of Veterans Affairs (J.B.H.), the Lupus Foundation of Minnesota (K.L.M.), the Knut and Alice Wallenberg Foundation (M.E.A.-R.), the Torsten & Ragnar Söderbergs Foundation (M.E.A.-R.), the Swedish Research Council (M.E.A.-R.) and a Wellcome Trust Senior Fellowship (T.J.V.). Additional acknowledgments are listed in the Supplementary Note online.
Author information
Author notes
- Broad Institute, 7 Cambridge Center, Boston, Massachusetts 02142 USA.
- Feinstein Institute for Medical Research, North Shore LIJ Health System, 350 Community Drive, Manhasset, New York 11030, USA.
- Genentech, Inc.,1 DNA Way, South San Francisco, California 94080, USA.
- University of California at Riverside, 900 University Avenue, Riverside, California 92521, USA.
- Université de Montréal, 5000 rue Belanger, Montréal H1T 1C8, Canada.
- Medical University of South Carolina, 135 Rutledge Avenue, Charleston, South Carolina 29403, USA.
- University of California at Davis, 1 Shields Avenue, Davis, California 95616, USA.
- University of Texas Southwestern Medical School, 5323 Harry Hines Boulevard, Dallas, Texas 75235, USA.
Authors and Affiliations
- Oklahoma Medical Research Foundation, 825 NE 13th Street, Oklahoma City, 73104, Oklahoma, USA
John B Harley & Kathy L Moser - US Department of Veterans Affairs Medical Center, 921 NE 13th Street, Oklahoma City, 73104, Oklahoma, USA
John B Harley - University of Oklahoma Health Sciences Center, 1100 N Lindsey, Oklahoma City, 73104, Oklahoma, USA
John B Harley - University of Uppsala, Olofsgatan St 10B, Uppsala, SE-751 05, Sweden
Marta E Alarcón-Riquelme - University of California at San Francisco, 374 Parnassus Ave, San Francisco, 94143, California, USA
Lindsey A Criswell - University of Southern California, 2011 Zonal Avenue, Los Angeles, 90033, California, USA
Chaim O Jacob - University of Alabama at Birmingham, 1900 University Blvd., Birmingham, 35294, Alabama, USA
Robert P Kimberly - University of Minnesota, 312 Church Street, Minneapolis, 55455, Minnesota, USA
Kathy L Moser - University of California at Los Angeles, 1000 Veterans Avenue, Los Angeles, 90095, California, USA
Betty P Tsao - Imperial College London, Hammersmith Hospital, Du Cane Road, London, W12 0NN, UK
Timothy J Vyse - Wake Forest University Health Sciences, Medical Center Blvd., Winston-Salem, 27157, North Carolina, USA
Carl D Langefeld
Authors
- John B Harley
You can also search for this author inPubMed Google Scholar - Marta E Alarcón-Riquelme
You can also search for this author inPubMed Google Scholar - Lindsey A Criswell
You can also search for this author inPubMed Google Scholar - Chaim O Jacob
You can also search for this author inPubMed Google Scholar - Robert P Kimberly
You can also search for this author inPubMed Google Scholar - Kathy L Moser
You can also search for this author inPubMed Google Scholar - Betty P Tsao
You can also search for this author inPubMed Google Scholar - Timothy J Vyse
You can also search for this author inPubMed Google Scholar - Carl D Langefeld
You can also search for this author inPubMed Google Scholar
Consortia
The International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN)
Contributions
J.B.H., C.D.L. and J.A.K. wrote the manuscript. M.E.A.-R., L.A.C., C.O.J., R.P.K., K.L.M., B.P.T., T.J.V. and J.C.E. evaluated the manuscript for content. S.B.G., D.B.M., K.M.K., Q.-Z.L., E.K.W., S.G.F., A.T.L., P.K.G., G.R.B., J.O.O., S.K.N., J.M.G., B.L.C. and B.N. collected or contributed data. C.D.L., M.C.M., A.H.W., W.W., J.A.K., J.D., K.E.T., R.Z. and M.F.S. performed analyses overseen by the data analysis committee (C.D.L., R.Z., P.M.G., J.C.E., J.D.R., K.M.K., M.E.A.-R., M.F., K.E.T. and B.P.T.). J.B.H., C.D.L., K.M.K., T.W.B., J.A.K., M.E.A.-R., L.A.C., C.O.J., R.P.K., K.L.M., B.P.T., T.J.V., S.K.N. and J.M.G. are responsible for the study design. J.B.H., M.E.A.-R., L.A.C., C.O.J., R.P.K., K.L.M., B.P.T., T.J.V., T.W.B., P.K.G., P.M.G., J.A.J., J.T.M., G.S.G., H.Y., E.C.B. and G.R.B. provided samples.
Other contributing authors are as follows:
Swapan K Nath1, Joel M Guthridge1, Beth L Cobb1, Daniel B Mirel12, Miranda C Marion10, Adrienne H Williams10, Jasmin Divers10, Wei Wang10, Summer G Frank1, Bahram Namjou1, Stacey B Gabriel12, Annette T Lee13, Peter K Gregersen13, Timothy W Behrens7,14, Kimberly E Taylor4, Michelle Fernando9, Raphael Zidovetzki15, Patrick M Gaffney1,7, Jeffrey C Edberg6, John D Rioux16, Joshua O Ojwang1, Judith A James1, Joan T Merrill1, Gary S Gilkeson17, Michael F Seldin18, Hong Yin3, Emily C Baechler7, Quan-Zhen Li19, Edward K Wakeland19, Gail R Bruner1, Kenneth M Kaufman1,2 & Jennifer A Kelly1
Corresponding authors
Correspondence toJohn B Harley or Carl D Langefeld.
Ethics declarations
Competing interests
SLEGEN has submitted a patent application based upon these results.
Additional information
SLEGEN members are listed above; other contributing authors are listed at the end of the paper.
Supplementary information
Rights and permissions
About this article
Cite this article
The International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN)., Harley, J., Alarcón-Riquelme, M. et al. Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.Nat Genet 40, 204–210 (2008). https://doi.org/10.1038/ng.81
- Received: 02 October 2007
- Accepted: 18 December 2007
- Published: 20 January 2008
- Issue Date: February 2008
- DOI: https://doi.org/10.1038/ng.81