Haplotype-based systematic association studies of ATP1A2 in migraine with aura

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics
Christian NetzerC Kubisch

Abstract

Mutations in ATP1A2 cause familial hemiplegic migraine (FHM) type 2, a rare monogenic form of migraine with aura (MA). Moreover, rare ATP1A2 missense variants are found in familial clustering of common forms of migraine in single pedigrees. To determine whether also common ATP1A2 polymorphisms contribute to MA pathogenesis, we performed systematic case-control association studies in 284 MA cases and 241 control individuals. By direct sequencing of the 23 coding exons and adjacent intronic regions in 45 MA patients, 16 polymorphisms (12 SNPs, 3 small indels, 1 microsatellite marker) were identified. The sequencing results were used to estimate seven common ATP1A2 haplotypes (with a frequency >5%) covering about 97% of total haplotype diversity for this region. Subsequently, six haplotype-tagging SNPs/polymorphisms were genotyped in 95 individuals with a family history of MA, in 189 individuals with sporadic MA, and in a gender-matched control sample. A haplotype analysis was performed using the program FAMHAP. No significant differences in the ATP1A2 haplotype distribution could be detected between MA patients (or patient subgroups) and the control group. In a single-marker analysis the allele and genotype frequencies of ATP1A2 ...Continue Reading

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Citations

Aug 18, 2006·Der Nervenarzt·T Freilinger, M Dichgans
Nov 8, 2007·Journal of Neurology·S V RamagopalanM Z Cader
Jan 20, 2009·Human Genetics·Unda TodtChristian Kubisch
May 17, 2008·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Daniela ColognoGennaro Bussone
Jul 17, 2008·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Pasquale Montagna
Mar 31, 2007·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Daniela Pietrobon
Aug 31, 2007·BMC Medical Genetics·Francesca FernandezLyn R Griffiths
May 19, 2007·Lancet Neurology·Maija WessmanRoel A Ophoff
May 6, 2008·Genomics·Christian NetzerChristian Kubisch
Mar 18, 2008·The Journal of Headache and Pain·Pasquale Montagna
May 8, 2008·Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism·Elisabetta Del ZottoAlessandro Padovani
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May 15, 2007·Current Opinion in Neurology·Arn M J M van den MaagdenbergMichel D Ferrari
Sep 2, 2008·Expert Review of Neurotherapeutics·Pasquale Montagna

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