The estrogen receptor 1 G594A polymorphism is associated with migraine susceptibility in two independent case/control groups

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Title The estrogen receptor 1 G594A polymorphism is associated with migraine susceptibility in two independent case/control groups
Author Colson, Natalie Jane; Lea, Rodney Arthur; Quinlan, Sharon Anne; MacMillan, John Crichton; Griffiths, Lyn
Journal Name Neurogenetics
Year Published 2004
Place of publication Germany
Publisher Springer-Verlag
Abstract Migraine is a painful and debilitating disorder with a significant genetic component. Steroid hormones, in particular estrogen, have long been considered to play a role in migraine, as variations in hormone levels are associated with migraine onset in many sufferers of the disorder. Steroid hormones mediate their activity via hormone receptors, which have a wide tissue distribution. Estrogen receptors have been localized to the brain in regions considered to be involved in migraine pathogenesis. Hence it is possible that genetic variation in the estrogen receptor gene may play a role in migraine susceptibility. This study thus examined the estrogen receptor 1 (ESR ) gene for a potential role in migraine pathogenesis and susceptibility. A population-based cohort of 224 migraine sufferers and 224 matched controls were genotyped for the G594A polymorphism located in exon 8 of the ESR1 gene. Statistical analysis indicated a significant difference between migraineurs and non-migraineurs in both the allele frequencies (P=0.003) and genotype distributions (P=0.008) in this sample. An independent follow-up study was then undertaken using this marker in an additional population-based cohort of 260 migraine sufferers and 260 matched controls. This resulted in a significant association between the two groups with regard to allele frequencies (P=8×10–6) and genotype distributions (P=4×10–5). Our findings support the hypothesis that genetic variation in hormone receptors, in particular the ESR1 gene, may play a role in migraine.
Peer Reviewed Yes
Published Yes
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Copyright Statement Copyright 2004 Springer. This is the author-manuscript version of the paper. Reproduced in accordance with the copyright policy of the publisher : The original publication is available at
Volume 5
Issue Number 2
Page from 129
Page to 133
ISSN 1364-6745
Date Accessioned 2005-03-31
Language en_AU
Research Centre Menzies Health Institute Qld
Faculty Griffith Health Faculty
Subject PRE2009-Neurogenetics
Publication Type Journal Articles (Refereed Article)
Publication Type Code c1

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