Common variants associated with general and MMR vaccine-related febrile seizures

被引：110

作者：

Feenstra, Bjarke ^{[1
]}

Pasternak, Bjorn ^{[1
]}

Geller, Frank ^{[1
]}

Carstensen, Lisbeth ^{[1
]}

Wang, Tongfei ^{[2
,3
,4
]}

Huang, Fen ^{[2
,3
,4
]}

Eitson, Jennifer L. ^{[5
]}

Hollegaard, Mads V. ^{[6
]}

Svanstrom, Henrik ^{[1
]}

Vestergaard, Mogens ^{[7
,8
]}

Hougaard, David M. ^{[6
]}

Schoggins, John W. ^{[5
]}

Jan, Lily Yeh ^{[2
,3
,4
]}

Melbye, Mads ^{[1
,9
,10
]}

Hviid, Anders ^{[1
]}

机构：

[1] Statens Serum Inst, Dept Epidemiol Res, DK-2300 Copenhagen, Denmark

[2] Univ Calif San Francisco, Dept Physiol, San Francisco, CA USA

[3] Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA

[4] Univ Calif San Francisco, Howard Hughes Med Inst, San Francisco, CA USA

[5] Univ Texas Southwestern Med Sch, Dept Microbiol, Dallas, TX USA

[6] Statens Serum Inst, Danish Ctr Neonatal Screening, Dept Clin Biochem Immunol & Genet, DK-2300 Copenhagen, Denmark

[7] Aarhus Univ, Res Unit, Dept Publ Hlth, Aarhus, Denmark

[8] Aarhus Univ, Sect Gen Practice, Dept Publ Hlth, Aarhus, Denmark

[9] Univ Copenhagen, Dept Clin Med, Copenhagen, Denmark

[10] Stanford Univ, Dept Med, Sch Med, Stanford, CA USA

来源：

NATURE GENETICS | 2014年 / 46卷 / 12期

基金：

英国医学研究理事会; 美国国家卫生研究院;

关键词：

MAGNESIUM-DEFICIENCY; CELLULAR RECEPTOR; MEASLES; CD46; POLYMORPHISMS; MUTATIONS; EPILEPSY; ACTIVATION; EXPRESSION; RESPONSES;

D O I：

10.1038/ng.3129

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Febrile seizures represent a serious adverse event following measles, mumps and rubella (MMR) vaccination. We conducted a series of genome-wide association scans comparing children with MMR-related febrile seizures, children with febrile seizures unrelated to vaccination and controls with no history of febrile seizures. Two loci were distinctly associated with MMR-related febrile seizures, harboring the interferon-stimulated gene IFI44L (rs273259: P = 5.9 x 10(-12) versus controls, P = 1.2 x 10(-9) versus MMR-unrelated febrile seizures) and the measles virus receptor CD46 (rs1318653: P = 9.6 x 10(-11) versus controls, P = 1.6 x 10(-9) versus MMR-unrelated febrile seizures). Furthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 x 10(-16)) and SCN2A (rs3769955: P = 3.1 x 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 x 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 x 10(-11)). Finally, we show the functional relevance of ANO3 (TMEM16C) with electrophysiological experiments in wild-type and knockout rats.

引用

页码：1274 / 1282

页数：9

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