Common variants associated with general and MMR vaccine-related febrile seizures
作者： Bjarke Feenstra , Björn Pasternak , Frank Geller , Lisbeth Carstensen , Tongfei Wang
DOI: 10.1038/NG.3129
关键词: Case-control study 、 Vaccination 、 Immunology 、 Biology 、 Measles 、 Polymorphism (computer science) 、 Adverse effect 、 Rubella 、 Genome-wide association study 、 MMR vaccine
摘要: Febrile seizures represent a serious adverse event following measles, mumps and rubella (MMR) vaccination. We conducted series of genome-wide association scans comparing children with MMR-related febrile seizures, unrelated to vaccination controls no history seizures. Two loci were distinctly associated harboring the interferon-stimulated gene IFI44L (rs273259: P = 5.9 × 10(-12) versus controls, 1.2 10(-9) MMR-unrelated seizures) measles virus receptor CD46 (rs1318653: 9.6 10(-11) 1.6 seizures). Furthermore, four in general, implicating sodium channel genes SCN1A (rs6432860: 2.2 10(-16)) SCN2A (rs3769955: 3.1 10(-10)), TMEM16 family (ANO3; rs114444506: 3.7 10(-20)) region magnesium levels (12q21.33; rs11105468: 3.4 10(-11)). Finally, we show functional relevance ANO3 (TMEM16C) electrophysiological experiments wild-type knockout rats.
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