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

被引：250

作者：

Nath, Swapan K. ^{[1
,2
]}

Han, Shizhong ^{[1
,2
]}

Kim-Howard, Xana ^{[1
,2
]}

Kelly, Jennifer A. ^{[2
]}

Viswanathan, Parvathi ^{[1
,2
]}

Gilkeson, Gary S. ^{[3
]}

Chen, Wei ^{[4
]}

Zhu, Cheng ^{[4
,5
]}

McEver, Rodger P. ^{[6
]}

Kimberly, Robert P. ^{[7
]}

Alarcon-Riquelme, Marta E. ^{[8
]}

Vyse, Timothy J. ^{[9
]}

Li, Quan-Zhen ^{[10
]}

Wakeland, Edward K. ^{[10
]}

Merrill, Joan T. ^{[11
]}

James, Judith A. ^{[2
,12
,13
]}

Kaufman, Kenneth M. ^{[2
,14
]}

Guthridge, Joel M. ^{[2
]}

Harley, John B. ^{[2
,13
,14
]}

机构：

[1] Oklahoma Med Res Fdn, Genet Epidemiol Unit, Oklahoma City, OK 73104 USA

[2] Oklahoma Med Res Fdn, Arthritis & Immunol Program, Oklahoma City, OK 73104 USA

[3] Med Univ S Carolina, Div Rheumatol, Dept Med, Charleston, SC 29403 USA

[4] Georgia Inst Technol, George W Woodruff Sch Mech Engn, Atlanta, GA 30332 USA

[5] Georgia Inst Technol, Wallace H Coulter Dept Biomed Engn, Atlanta, GA 30332 USA

[6] Oklahoma Med Res Fdn, Cardiovasc Biol Program, Oklahoma City, OK 73104 USA

[7] Univ Alabama Birmingham, Dept Med, Div Clin Immunol & Rheumatol, Birmingham, AL 35294 USA

[8] Uppsala Univ, Rudbeck Lab, Dept Genet & Pathol, SE-75105 Uppsala, Sweden

[9] Univ London Imperial Coll Sci Technol & Med, Hammersmith Hosp, Rheumatol Sect, London W12 0NN, England

[10] Univ Texas SW Med Ctr Dallas, Dept Immunol, Dallas, TX 75235 USA

[11] Oklahoma Med Res Fdn, Dept Clin Pharmacol, Oklahoma City, OK 73104 USA

[12] Oklahoma Med Res Fdn, Dept Med, Oklahoma City, OK 73104 USA

[13] Oklahoma Med Res Fdn, Dept Pathol, Oklahoma City, OK 73104 USA

[14] US Dept Vet Affairs Med Ctr, Oklahoma City, OK 73104 USA

来源：

NATURE GENETICS | 2008年 / 40卷 / 02期

关键词：

D O I：

10.1038/ng.71

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 x 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 x 10(-22)). The genetic association between ITGAM and SLE implicates the alpha(M)beta(2)-integrin adhesion pathway in disease development.

引用

页码：152 / 154

页数：3

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