期刊
NATURE GENETICS
卷 46, 期 12, 页码 1274-1282出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.3129
关键词
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资金
- Danish Medical Research Council [0602-01818B]
- US National Institutes of Health (NIH)/National Institute of Allergy and Infectious Diseases [R01A1093697]
- NIH/National Institute of Diabetes and Digestive and Kidney Diseases [K01DK095031]
- NIH/National Institute of Neurological Disorders and Stroke [R0I NS069229]
- Novo Nordisk Foundation
- Danish Medical Research Council
- Lundbeck Foundation
- Oak Foundation fellowship
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.
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