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Identification of Polymorphisms in EAAT1 Glutamate Transporter Gene SLC1A3 Associated with Reduced Migraine Risk.
Albury, Cassie L; Sutherland, Heidi G; Lam, Alexis W Y; Tran, Ngan K; Lea, Rod A; Haupt, Larisa M; Griffiths, Lyn R.
Affiliation
  • Albury CL; Genomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology (QUT), 60 Musk Ave., Kelvin Grove, QLD 4059, Australia.
  • Sutherland HG; Genomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology (QUT), 60 Musk Ave., Kelvin Grove, QLD 4059, Australia.
  • Lam AWY; Genomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology (QUT), 60 Musk Ave., Kelvin Grove, QLD 4059, Australia.
  • Tran NK; Genomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology (QUT), 60 Musk Ave., Kelvin Grove, QLD 4059, Australia.
  • Lea RA; Genomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology (QUT), 60 Musk Ave., Kelvin Grove, QLD 4059, Australia.
  • Haupt LM; Stem Cell and Neurogenesis Group, Genomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology (QUT), Kelvin Grove, QLD 4059, Australia.
  • Griffiths LR; ARC Training Centre for Cell and Tissue Engineering Technologies, Queensland University of Technology(QUT), Kelvin Grove, QLD 4059, Australia.
Genes (Basel) ; 15(6)2024 Jun 18.
Article in En | MEDLINE | ID: mdl-38927733
ABSTRACT
Dysfunction in ion channels or processes involved in maintaining ionic homeostasis is thought to lower the threshold for cortical spreading depression (CSD), and plays a role in susceptibility to associated neurological disorders, including pathogenesis of a migraine. Rare pathogenic variants in specific ion channels have been implicated in monogenic migraine subtypes. In this study, we further examined the channelopathic nature of a migraine through the analysis of common genetic variants in three selected ion channel or transporter genes SLC4A4, SLC1A3, and CHRNA4. Using the Agena MassARRAY platform, 28 single-nucleotide polymorphisms (SNPs) across the three candidate genes were genotyped in a case-control cohort comprised of 182 migraine cases and 179 matched controls. Initial results identified significant associations between migraine and rs3776578 (p = 0.04) and rs16903247 (p = 0.05) genotypes within the SLC1A3 gene, which encodes the EAAT1 glutamate transporter. These SNPs were subsequently genotyped in an independent cohort of 258 migraine cases and 290 controls using a high-resolution melt assay, and association testing supported the replication of initial findings-rs3776578 (p = 0.0041) and rs16903247 (p = 0.0127). The polymorphisms are in linkage disequilibrium and localise within a putative intronic enhancer region of SLC1A3. The minor alleles of both SNPs show a protective effect on migraine risk, which may be conferred via influencing the expression of SLC1A3.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Predisposition to Disease / Polymorphism, Single Nucleotide / Excitatory Amino Acid Transporter 1 / Migraine Disorders Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: Genes (Basel) Year: 2024 Document type: Article Affiliation country: Country of publication:

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Predisposition to Disease / Polymorphism, Single Nucleotide / Excitatory Amino Acid Transporter 1 / Migraine Disorders Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: Genes (Basel) Year: 2024 Document type: Article Affiliation country: Country of publication: