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The “maternal effect” on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence

Colin A. Ellis, Samuel F. Berkovic, Michael P. Epstein, Ruth Ottman, (for the Epi4K Consortium), Owen Pickrell Orcid Logo

Annals of Neurology, Volume: 87, Issue: 1, Pages: 132 - 138

Swansea University Author: Owen Pickrell Orcid Logo

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DOI (Published version): 10.1002/ana.25625

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Objective: Previous studies have observed that epilepsy risk is higher among offspring of affected women thanoffspring of affected men. We tested whether this “maternal effect” was present in familial epilepsies, which areenriched for genetic factors that contribute to epilepsy risk.Methods: We asse...

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Published in: Annals of Neurology
ISSN: 0364-5134 1531-8249
Published: Wiley 2020
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URI: https://cronfa.swan.ac.uk/Record/cronfa52556
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spelling 2020-11-20T09:37:14.4425856 v2 52556 2019-10-24 The “maternal effect” on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence 1c3044b5ff7a6552ff5e8c9e3901c807 0000-0003-4396-5657 Owen Pickrell Owen Pickrell true false 2019-10-24 FGMHL Objective: Previous studies have observed that epilepsy risk is higher among offspring of affected women thanoffspring of affected men. We tested whether this “maternal effect” was present in familial epilepsies, which areenriched for genetic factors that contribute to epilepsy risk.Methods: We assessed evidence of a maternal effect in a cohort of families containing ≥3 persons with epilepsyusing three methods: (1) “downward-looking” analysis, comparing the rate of epilepsy in offspring of affectedwomen versus men; (2) “upward-looking” analysis, comparing the rate of the epilepsy among mothers versusfathers of affected individuals; (3) lineage analysis, comparing the the proportion of affected individuals withfamily history of epilepsy on the maternal versus paternal side.Results: Downward-looking analysis revealed no difference in epilepsy rates among offspring of affectedmothers versus fathers (prevalence ratio 1.0, 95% CI 0.8, 1.2). Upward-looking analysis revealed more affectedmothers than affected fathers; this effect was similar for affected and unaffected sibships (odds ratio 0.8, 95%CI 0.5, 1.2) and was explained by a combination of differential fertility and participation rates. Lineage analysisrevealed no significant difference in the likelihood of maternal versus paternal family history of epilepsy.Interpretation: We found no evidence of a maternal effect on epilepsy risk in this familial epilepsy cohort.Confounding sex imbalances can create the appearance of a maternal effect in upward-looking analyses andmay have impacted prior studies. We discuss possible explanations for the lack of evidence, in familialepilepsies, of the maternal effect observed in population-based studies Journal Article Annals of Neurology 87 1 132 138 Wiley 0364-5134 1531-8249 1 1 2020 2020-01-01 10.1002/ana.25625 COLLEGE NANME Medicine, Health and Life Science - Faculty COLLEGE CODE FGMHL Swansea University 2020-11-20T09:37:14.4425856 2019-10-24T08:44:58.4242243 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Medicine Colin A. Ellis 1 Samuel F. Berkovic 2 Michael P. Epstein 3 Ruth Ottman 4 (for the Epi4K Consortium) 5 Owen Pickrell 0000-0003-4396-5657 6 52556__15709__a3eca5c3eb874026bc56e763becdc23e.pdf Ellis-maternal effect complete.pdf 2019-10-24T08:56:22.2796079 Output 987624 application/pdf Accepted Manuscript true 2020-10-21T00:00:00.0000000 true eng
title The “maternal effect” on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence
spellingShingle The “maternal effect” on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence
Owen Pickrell
title_short The “maternal effect” on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence
title_full The “maternal effect” on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence
title_fullStr The “maternal effect” on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence
title_full_unstemmed The “maternal effect” on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence
title_sort The “maternal effect” on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence
author_id_str_mv 1c3044b5ff7a6552ff5e8c9e3901c807
author_id_fullname_str_mv 1c3044b5ff7a6552ff5e8c9e3901c807_***_Owen Pickrell
author Owen Pickrell
author2 Colin A. Ellis
Samuel F. Berkovic
Michael P. Epstein
Ruth Ottman
(for the Epi4K Consortium)
Owen Pickrell
format Journal article
container_title Annals of Neurology
container_volume 87
container_issue 1
container_start_page 132
publishDate 2020
institution Swansea University
issn 0364-5134
1531-8249
doi_str_mv 10.1002/ana.25625
publisher Wiley
college_str Faculty of Medicine, Health and Life Sciences
hierarchytype
hierarchy_top_id facultyofmedicinehealthandlifesciences
hierarchy_top_title Faculty of Medicine, Health and Life Sciences
hierarchy_parent_id facultyofmedicinehealthandlifesciences
hierarchy_parent_title Faculty of Medicine, Health and Life Sciences
department_str Swansea University Medical School - Medicine{{{_:::_}}}Faculty of Medicine, Health and Life Sciences{{{_:::_}}}Swansea University Medical School - Medicine
document_store_str 1
active_str 0
description Objective: Previous studies have observed that epilepsy risk is higher among offspring of affected women thanoffspring of affected men. We tested whether this “maternal effect” was present in familial epilepsies, which areenriched for genetic factors that contribute to epilepsy risk.Methods: We assessed evidence of a maternal effect in a cohort of families containing ≥3 persons with epilepsyusing three methods: (1) “downward-looking” analysis, comparing the rate of epilepsy in offspring of affectedwomen versus men; (2) “upward-looking” analysis, comparing the rate of the epilepsy among mothers versusfathers of affected individuals; (3) lineage analysis, comparing the the proportion of affected individuals withfamily history of epilepsy on the maternal versus paternal side.Results: Downward-looking analysis revealed no difference in epilepsy rates among offspring of affectedmothers versus fathers (prevalence ratio 1.0, 95% CI 0.8, 1.2). Upward-looking analysis revealed more affectedmothers than affected fathers; this effect was similar for affected and unaffected sibships (odds ratio 0.8, 95%CI 0.5, 1.2) and was explained by a combination of differential fertility and participation rates. Lineage analysisrevealed no significant difference in the likelihood of maternal versus paternal family history of epilepsy.Interpretation: We found no evidence of a maternal effect on epilepsy risk in this familial epilepsy cohort.Confounding sex imbalances can create the appearance of a maternal effect in upward-looking analyses andmay have impacted prior studies. We discuss possible explanations for the lack of evidence, in familialepilepsies, of the maternal effect observed in population-based studies
published_date 2020-01-01T04:04:59Z
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