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dc.contributor.advisorMetspalu, Andreset
dc.contributor.advisorKolk, Anneliet
dc.contributor.authorLorenz, Anna-Liisa
dc.contributor.otherTartu Ülikool. Loodus- ja tehnoloogiateaduskondet
dc.contributor.otherTartu Ülikool. Molekulaar- ja rakubioloogia instituutet
dc.date.accessioned2016-08-11T07:40:56Z
dc.date.available2016-08-11T07:40:56Z
dc.date.issued2016
dc.identifier.urihttp://hdl.handle.net/10062/52937
dc.description.abstractMigraine is an episodic brain disorder that is characterized by recurrent pain. Etiology of migraine is extremely complex; most likely caused by combination of genetic and environmental risk factors. The aim of the thesis is to examine the role of MTHFR polymorphisms rs1801131 and rs1801133 as risk factors for pediatric migraine; also in migraine subtypes – migraine with aura (MA) and without aura (MO). Second part involved exome sequencing of two family trios to discover novel genetic risk factors for migraine. Candidate gene study of MTHFR did not reveal any statistically significant results. Exome sequencing revealed three novel variants that could precipitate migraine. PDLIM5, PRKCE and SCN9A all affect voltage-gated channels. Mutations in those genes could increase neuronal hyperexcitability and neurotransmitter release, which in turn has been associated with pain and visual aura.en
dc.language.isoenen
dc.publisherTartu Ülikoolet
dc.subjectexome sequencingen
dc.subjectMOen
dc.subjectMAen
dc.subjectMigraineen
dc.subject.othermagistritöödet
dc.titleIdentifying common and rare variants in migraine genetic predispositionen
dc.typeThesisen


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