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GWAS Study

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

Feenstra B, Pasternak B, Geller F et al.

25344690 PubMed ID
GWAS Study Type
9204 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

FB
Feenstra B
PB
Pasternak B
GF
Geller F
CL
Carstensen L
WT
Wang T
HF
Huang F
EJ
Eitson JL
HM
Hollegaard MV
SH
Svanström H
VM
Vestergaard M
HD
Hougaard DM
SJ
Schoggins JW
JL
Jan LY
MM
Melbye M
HA
Hviid A
Chapter II

Abstract

Summary of the research findings

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 × 10(-12) versus controls, P = 1.2 × 10(-9) versus MMR-unrelated febrile seizures) and the measles virus receptor CD46 (rs1318653: P = 9.6 × 10(-11) versus controls, P = 1.6 × 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 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)). Finally, we show the functional relevance of ANO3 (TMEM16C) with electrophysiological experiments in wild-type and knockout rats.

929 European ancestry MMR vaccine-related febrile seizures cases, 1,070 European ancestry MMR vaccine-unrelated febrile seizures cases, 4,118 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

9204
Total Participants
GWAS
Study Type
Yes
Replicated
Up to 408 European ancestry MMR vaccine-related febrile seizures cases, Up to 1,034 European ancestry MMR vaccine-unrelated febrile seizures cases, Up to 1,645 European ancestry controls
Replication Participants
European
Ancestry
Denmark
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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Analysis In Progress

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