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10. Identification of Polymorphisms in EAAT1 Glutamate Transporter Gene SLC1A3 Associated with Reduced Migraine Risk.

Author

Albury, Cassie L., Sutherland, Heidi G., Lam, Alexis W. Y., Tran, Ngan K., Lea, Rod A., Haupt, Larisa M., and Griffiths, Lyn R.

Subjects
*GLUTAMATE transporters, *GENETIC polymorphisms, *MIGRAINE, *EXCITATORY amino acids, *SPREADING cortical depression, *SINGLE nucleotide polymorphisms, *SUMATRIPTAN
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. [ABSTRACT FROM AUTHOR]

Published
2024
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17. Association Study of a Comprehensive Panel of Neuropeptide-Related Polymorphisms Suggest Potential Roles in Verbal Learning and Memory.

Author

Avgan, Nesli, Sutherland, Heidi G., Lea, Rod A., Haupt, Larisa M., Shum, David H. K., and Griffiths, Lyn R.

Subjects
*VERBAL learning, *VERBAL memory, *COGNITIVE ability, *GENETIC variation, *GENETIC polymorphisms
Abstract

Neuropeptides are mostly expressed in regions of the brain responsible for learning and memory and are centrally involved in cognitive pathways. The majority of neuropeptide research has been performed in animal models; with acknowledged differences between species, more research into the role of neuropeptides in humans is necessary to understand their contribution to higher cognitive function. In this study, we investigated the influence of genetic polymorphisms in neuropeptide genes on verbal learning and memory. Variants in genes encoding neuropeptides and neuropeptide receptors were tested for association with learning and memory measures using the Hopkins Verbal Learning Test—Revised (HVLT-R) in a healthy cohort of individuals (n = 597). The HVLT-R is a widely used task for verbal learning and memory assessment and provides five sub-scores: recall, delay, learning, retention, and discrimination. To determine the effect of candidate variants on learning and memory performance, genetic association analyses were performed for each HVLT-R sub-score with over 1300 genetic variants from 124 neuropeptide and neuropeptide receptor genes, genotyped on Illumina OmniExpress BeadChip arrays. This targeted analysis revealed numerous suggestive associations between HVLT-R test scores and neuropeptide and neuropeptide receptor gene variants; candidates include the SCG5, IGFR1, GALR1, OXTR, CCK, and VIPR1 genes. Further characterization of these genes and their variants will improve our understanding of the genetic contribution to learning and memory and provide insight into the importance of the neuropeptide network in humans. [ABSTRACT FROM AUTHOR]

Published
2024
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21. Investigation of CACNA1I Cav3.3 Dysfunction in Hemiplegic Migraine

Author

Maksemous, Neven, primary, Blayney, Claire D., additional, Sutherland, Heidi G., additional, Smith, Robert A., additional, Lea, Rod A., additional, Tran, Kim Ngan, additional, Ibrahim, Omar, additional, McArthur, Jeffrey R., additional, Haupt, Larisa M., additional, Cader, M. Zameel, additional, Finol-Urdaneta, Rocio K., additional, Adams, David J., additional, and Griffiths, Lyn R., additional

Published
2022
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28. Exploring the Hereditary Nature of Migraine

Author

Bron,Charlene, Sutherland,Heidi G, and Griffiths,Lyn R

Subjects
Neuropsychiatric Disease and Treatment
Abstract

Charlene Bron, Heidi G Sutherland, Lyn R Griffiths Queensland University of Technology (QUT), Centre for Genomics and Personalised Health, Genomics Research Centre, School of Biomedical Sciences, Institute of Health and Biomedical Innovation, Queensland, 4059, AustraliaCorrespondence: Lyn R Griffiths Tel +617 3138 6102Fax +617 3138 6039Email lyn.griffiths@qut.edu.auAbstract: Migraine is a common neurological disorder which affects 15– 20% of the population; it has a high socioeconomic impact through treatment and loss of productivity. Current forms of diagnosis are primarily clinical and can be difficult owing to comorbidity and symptom overlap with other neurological disorders. As such, there is a need for better diagnostic tools in the form of genetic testing. Migraine is a complex disorder, encompassing various subtypes, and has a large genetic component. Genetic studies conducted on rare monogenic subtypes, including familial hemiplegic migraine, have led to insights into its pathogenesis via identification of causal mutations in three genes (CACNA1A, ATP1A2 and SCN1A) that are involved in transport of ions at synapses and glutamatergic transmission. Study of familial migraine with aura pedigrees has also revealed other causal genes for monogenic forms of migraine. With respect to the more common polygenic form of migraine, large genome-wide association studies have increased our understanding of the genes, pathways and mechanisms involved in susceptibility, which are largely involved in neuronal and vascular functions. Given the preponderance of female migraineurs (3:1), there is evidence to suggest that hormonal or X-linked components can also contribute to migraine, and the role of genetic variants in mitochondrial DNA in migraine has been another avenue of exploration. Epigenetic studies of migraine have shown links between hormonal variation and alterations in DNA methylation and gene expression. While there is an abundance of preliminary studies identifying many potentially causative migraine genes and pathways, more comprehensive genomic and functional analysis to better understand mechanisms may aid in better diagnostic and treatment outcomes.Keywords: migraine, migraine without aura, migraine with aura, familial hemiplegic migraine, X-linked, mitochondrial variants, epigenetics

Published
2021

29. Using Monozygotic Twins to Dissect Common Genes in Posttraumatic Stress Disorder and Migraine

Author

Bainomugisa, Charlotte K., primary, Sutherland, Heidi G., additional, Parker, Richard, additional, Mcrae, Allan F., additional, Haupt, Larisa M., additional, Griffiths, Lyn R., additional, Heath, Andrew, additional, Nelson, Elliot C., additional, Wright, Margaret J., additional, Hickie, Ian B., additional, Martin, Nicholas G., additional, Nyholt, Dale R., additional, and Mehta, Divya, additional

Published
2021
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34. Long-Term Consumption of Anthocyanin-Rich Fruit Juice: Impact on Gut Microbiota and Antioxidant Markers in Lymphocytes of Healthy Males

Author

Groh, Isabel Anna Maria, primary, Riva, Alessandra, additional, Braun, Dominik, additional, Sutherland, Heidi G., additional, Williams, Owen, additional, Bakuradze, Tamara, additional, Pahlke, Gudrun, additional, Richling, Elke, additional, Haupt, Larisa M., additional, Griffiths, Lyn R., additional, Berry, David, additional, and Marko, Doris, additional

Published
2020
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35. Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants

Author

Sutherland, Heidi G., primary, Maksemous, Neven, additional, Albury, Cassie L., additional, Ibrahim, Omar, additional, Smith, Robert A., additional, Lea, Rod A., additional, Haupt, Larisa M., additional, Jenkins, Bronwyn, additional, Tsang, Benjamin, additional, and Griffiths, Lyn R., additional

Published
2020
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40. Association of Polymorphisms in ARRB2and Clinical Response to Methadone for Pain in Advanced Cancer

Author

Ozberk, Deniz, Haywood, Alison, Sutherland, Heidi G, Yu, Chieh, Albury, Cassie L, Zunk, Mathew, George, Rani, Good, Phillip, Griffiths, Lyn R, Hardy, Janet, and Haupt, Larisa M

Abstract

Background:The prescription of methadone in advanced cancer poses multiple challenges due to the considerable interpatient variation seen in effective dose and toxicity. Previous reports have suggested that ARRB2 influences the response to methadone in opioid substitution therapy. Associations with opioid response for pain management in advanced cancer are conflicting, with no studies including methadone as the primary intervention. Methods:In a prospective, multicenter, open-label dose-individualization study, we investigated whether polymorphisms in ARRB2were associated with methadone dose requirements and pain severity. Results:Significant associations were found for rs3786047, rs1045280, rs2036657 and pain score. Conclusion:While studies are few and the sample size small, ARRB2genotyping may assist in individualized management of the most feared symptom in advanced cancer.

Published
2022
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41. Supplementary_Figure_1_(1) - Targeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine

Author

Maksemous, Neven, Smith, Robert A, Sutherland, Heidi G, Maher, Bridget H, Ibrahim, Omar, Nicholson, Garth A, Carpenter, Elisabeth P, Lea, Rod A, M Zameel Cader, and Griffiths, Lyn R

Subjects
FOS: Clinical medicine, 110904 Neurology and Neuromuscular Diseases
Abstract

Supplementary_Figure_1_(1) for Targeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine by Neven Maksemous, Robert A Smith, Heidi G Sutherland, Bridget H Maher, Omar Ibrahim, Garth A Nicholson, Elisabeth P Carpenter, Rod A Lea, M Zameel Cader and Lyn R Griffiths in Cephalalgia Reports

Published
2019
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42. Methylome-wide association study of whole blood DNA in the Norfolk Island isolate identifies robust loci associated with age

Author

Benton, Miles C., Sutherland, Heidi G., Macartney-Coxson, Donia, Haupt, Larisa M, Lea, Rodney A, and Griffiths, Lyn R

Subjects
FOS: Biological sciences, 60404 Epigenetics (incl. Genome Methylation and Epigenomics)
Abstract

Epigenetic regulation of various genomic functions, including gene expression, provide mechanisms whereby an organism can dynamically respond to changes in its environment and modify gene expression accordingly. One epigenetic mechanism implicated in human aging and age-related disorders is DNA methylation. Isolated populations such as Norfolk Island (NI) should be advantageous for the identification of epigenetic factors related to aging due to reduced genetic and environmental variation. Here we conducted a methylome-wide association study of age using whole blood DNA in 24 healthy female individuals from the NI genetic isolate (aged 24-47 years). We analysed 450K methylation array data using a machine learning approach (GLMnet) to identify age-associated CpGs. We identified 497 CpG sites, mapping to 422 genes, associated with age, with 11 sites previously associated with age. The strongest associations identified were for a single CpG site in MYOF and an extended region within the promoter of DDO. These hits were validated in curated public data from 2316 blood samples (MARMAL-AID). This study is the first to report robust age associations for MYOF and DDO, both of which have plausible functional roles in aging. This study also illustrates the value of genetic isolates to reveal new associations with epigenome-level data.

Published
2019
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45. Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case

Author

Bradshaw, Gabrielle, primary, Lualhati, Robbie R., additional, Albury, Cassie L., additional, Maksemous, Neven, additional, Roos-Araujo, Deidre, additional, Smith, Robert A., additional, Benton, Miles C., additional, Eccles, David A., additional, Lea, Rod A., additional, Sutherland, Heidi G., additional, Haupt, Larisa M., additional, and Griffiths, Lyn R., additional

Published
2018
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