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

Ellis, Colin A., Berkovic, Samuel F., Epstein, Michael P., Ottman, Ruth, Epi4K Consortium, Smith, Phil E. M. ORCID: https://orcid.org/0000-0003-4250-2562 and Thomas, Rhy H. 2019. The “maternal effect” on epilepsy risk: analysis of familial epilepsies and reassessment of prior evidence. Annals of Neurology 87 (1) , pp. 132-138. 10.1002/ana.25625

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Abstract

Objective Previous studies have observed that epilepsy risk is higher among offspring of affected women than offspring of affected men. We tested whether this “maternal effect” was present in familial epilepsies, which are enriched 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 epilepsy using 3 methods: (1) “downward‐looking” analysis, comparing the rate of epilepsy in offspring of affected women versus men; (2) “upward‐looking” analysis, comparing the rate of epilepsy among mothers versus fathers of affected individuals; and (3) lineage analysis, comparing the proportion of affected individuals with family history of epilepsy on the maternal versus paternal side. Results Downward‐looking analysis revealed no difference in epilepsy rates among offspring of affected mothers versus fathers (prevalence ratio = 1.0, 95% confidence interval [CI] = 0.8–1.2). Upward‐looking analysis revealed more affected mothers 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 analysis revealed 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 and may have impacted prior studies. We discuss possible explanations for the lack of evidence, in familial epilepsies, of the maternal effect observed in population‐based studies. ANN NEUROL 2020;87:132–138

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Additional Information:	Phil E. M. Smith and Rhys H. Thomas are members of the Epi4K Consortium
Publisher:	Wiley
ISSN:	0364-5134
Date of Acceptance:	18 October 2019
Last Modified:	09 Nov 2022 10:19
URI:	https://orca.cardiff.ac.uk/id/eprint/139082

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