rs548294

This is a upstream gene variant variant in the GRIA1 gene.

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Research that mentions this SNP (2)

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Evidence of Syntaxin 1A Involvement in Migraine Susceptibility
ReviewCarolina Lemos et al.(2010)· Archives of Neurology

This review examines molecular genetic factors and biochemical markers associated with migraine, including genes encoding ion channels (KCNK18/TRESK), neurotransmitter systems (SLC6A4, HCRTR1), and metabolic enzymes (MTHFR C677T, rs1801133). The authors discuss polymorphisms in MTHFR, KCNK18, HCRTR1, SLC6A4, STX1A, GRIA1, and GRIA3, and report preliminary data from 68 Polish participants (34 patients, 34 controls) showing associations between 5-HTTLPR and HCRTR1 rs2271933 polymorphisms with migraine susceptibility and biochemical markers including serotonin and hypocretin-1 levels.

Traits studied:Familial hemiplegic migraineHomocysteine metabolismHypocretin-1 levelsMigraineMigraine with auraMigraine without auraOxidative stressPain transmissionSerotonin dysregulation
PubMedDOIMetascience Observatory
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Association study of the serotoninergic system in migraine in the spanish population
FunctionalN=149Corominas R. et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Development and validation of a targeted NGS panel for diagnosing familial hemiplegic migraine (FHM), episodic ataxia type 2 (EA2), CADASIL, and migraine with aura. In 149 patients across 4 cohorts (55 FHM, 44 CADASIL, 31 EA2, 19 migraine families), the panel identified novel and known mutations in genes CACNA1A, ATP1A2, SCN1A, and NOTCH3, increasing mutation detection rate from 7.7% to 28.5%. Notably, ATP1A2 and NOTCH3 mutations were identified in typical migraine with aura families for the first time, demonstrating aetiological overlap with FHM.

Traits studied:CADASILEpisodic Ataxia Type 2Familial Hemiplegic MigraineMigraine with auraMigraine without auraSpinocerebellar ataxia type 6
PubMedDOIMetascience Observatory

About GRIA1

Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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