Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus

被引：530

作者：

Lee-Kirsch, Min Ae ^{[1
]}

Gong, Maolian

Chowdhury, Dipanjan

Senenko, Lydia

Engel, Kerstin

Lee, Young-Ae

de Silva, Udesh

Bailey, Suzanna L.

Witte, Torsten

Vyse, Timothy J.

Kere, Juha

Pfeiffer, Christiane

Harvey, Scott

Wong, Andrew

Koskenmies, Sari

Hummel, Oliver

Rohde, Klaus

Schmidt, Reinhold E.

Dominiczak, Anna F.

Gahr, Manfred

Hollis, Thomas

Perrino, Fred W.

Lieberman, Judy

Huebner, Norbert

机构：

[1] Tech Univ Dresden, Klin Kinder & Jugendmed, D-01307 Dresden, Germany

[2] Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany

[3] Harvard Univ, Sch Med, Dept Pediat, CBR Inst Biomed Res, Boston, MA 02125 USA

[4] Charite Univ Med Berlin, D-13353 Berlin, Germany

[5] Wake Forest Univ Hlth Sci, Dept Biochem, Ctr Struct Biol, Winston Salem, NC 27157 USA

[6] Hannover Med Sch, Klin Immunol, D-30625 Hannover, Germany

[7] Hammersmith Hosp, Imperial Coll, Fac Med, Sect Rheumatol & Mol Genet, London W12 0NN, England

[8] Karolinska Inst, Dept Biosci & Nutr, S-14157 Huddinge, Sweden

[9] Clin Res Ctr, S-14157 Huddinge, Sweden

[10] Tech Univ Dresden, Dermatol Klin, D-01307 Dresden, Germany

[11] Wake Forest Univ Hlth Sci, Dept Biochem, Winston Salem, NC 27157 USA

[12] Univ Helsinki, Dept Med Genet, FIN-00014 Helsinki, Finland

[13] Univ Helsinki, Dept Dermatol, FIN-00014 Helsinki, Finland

[14] Univ Glasgow, BHF Glasgow Cardiovasc Res Ctr, Glasgow G12 8TA, Lanark, Scotland

来源：

NATURE GENETICS | 2007年 / 39卷 / 09期

关键词：

D O I：

10.1038/ng2091

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

TREX1 acts in concert with the SET complex in granzyme A - mediated apoptosis, and mutations in TREX1 cause Aicardi-Goutieres syndrome and familial chilblain lupus. Here, we report monoallelic frameshift or missense mutations and one 3' UTR variant of TREX1 present in 9/ 417 individuals with systemic lupus erythematosus but absent in 1,712 controls (P= 4.1x10(-7)). We demonstrate that two mutant TREX1 alleles alter subcellular targeting. Our findings implicate TREX1 in the pathogenesis of SLE.

引用

页码：1065 / 1067

页数：3

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