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Published on: June 2, 2014
Novel Potential Risk Loci for Migraine in the Portuguese Population
Rodrigo De Marco1,2,3, Kevin Pucci1, Mariana Santos1
1Unit for Multidisciplinary Research in Biomedicine (UMIB), School of Medicine and Biomedical Sciences (ICBAS), University of Porto, Rua Jorge Viterbo Ferreira 228, 4050-313 Porto, Portugal.
International Journal of Molecular Sciences
|June 26, 2026
Summary
This study identified 12 potential genetic risk loci for migraine in the Portuguese population using genome-wide association studies (GWAS) and polygenic risk scores (PRS). Top variants highlight roles for neurotransmitter release and vascular factors in migraine.
Area of Science:
- Genetics and Genomics
- Neuroscience
- Population Health
Background:
- Migraine is a complex neurological disorder with diverse clinical presentations.
- The genetic underpinnings of migraine remain incompletely understood despite extensive research.
- Population-specific genetic factors may contribute to migraine susceptibility.
Purpose of the Study:
- To conduct the first pilot genome-wide association study (GWAS) in the Portuguese population to identify migraine susceptibility loci.
- To integrate polygenic risk score (PRS) analysis to pinpoint population-specific genetic variants associated with migraine.
- To explore the biological relevance of identified variants in migraine pathophysiology.
Main Methods:
- A case-control study design was employed.
- Genotyping data was obtained using the Applied Biosystems Axiom™ PMDA array, with over 12 million single-nucleotide polymorphisms (SNPs) analyzed post-imputation.
- Polygenic risk score (PRS) models were developed and validated using k-folds cross-validation.
Main Results:
- Twelve potential migraine risk loci, represented by 12 lead SNPs, were identified.
- The top three variants (RP11-204N11.2, CTA-481E9.4/CTA-481E9.3, and RAP1A) were further supported by the PRS model.
- Several identified variants suggest biological relevance to neurotransmitter release, synaptic transmission, and vascular components in migraine.
Conclusions:
- This pilot GWAS and PRS study successfully identified novel genetic loci associated with migraine in the Portuguese population.
- The findings underscore the importance of specific genetic variants in migraine susceptibility.
- The results contribute to a deeper understanding of the genetic architecture and biological mechanisms underlying migraine pathophysiology.
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