Publications by authors named "Marlene Quintas"

Article Synopsis
  • Most SNPs linked to complex diseases are found in non-coding genome regions, and their role in gene expression and disease is not well understood.
  • A new workflow was developed to prioritize the importance of non-coding SNPs in neurological disorder genes, using migraines as a case study.
  • The study identified specific non-coding SNPs with high regulatory potential that could impact gene expression related to migraine susceptibility.
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Background: Migraine is a multifactorial disorder that is more frequent (two to four times) in women than in men. In recent years, our research group has focused on the role of neurotransmitter release and its regulation. Neurexin (NRXN2) is one of the components of the synaptic vesicle machinery, responsible for connecting intracellular fusion proteins and synaptic vesicles.

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Objective: A number of observations, including among our study population, have implicated variants in the syntaxin-1A, a component of the synaptic vesicles, in migraine susceptibility. Therefore, we hypothesize that variants in other components of the vesicle machinery are involved in migraine.

Background: Migraine is a common and complex neurologic disorder that affects approximately 15-18% of the general population.

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Migraine is a common neurological episodic disorder with a female-to-male prevalence 3- to 4-fold higher, suggesting a possible X-linked genetic component. Our aims were to assess the role of common variants of gamma-aminobutyric acid A receptor (GABAAR) genes, located in the X-chromosome, in migraine susceptibility and the possible interaction between them. An association study with 188 unrelated cases and 286 migraine-free controls age- and ethnic matched was performed.

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