Human Biology Open Access Pre-Prints

Document Type

Article

Anticipated Volume

96

Anticipated Issue

1

Abstract

Objective: Genetic characterization of migraine with aura in the population of Buenos Aires Province, Argentina.

Background: Migraine is a primary headache disorder with neurovascular involvement. Migraine with aura is a subtype that accounts for approximately 15–40% of all migraine cases. Several studies have shown that the global prevalence of migraine varies depending on the population studied. The population of Buenos Aires Province has an admixed genetic background. Several genetic association studies on migraine have been reported; however, most of them were conducted in cohorts of European ancestry, introducing a bias that overlooks global population diversity.

Methods: DNA was extracted from mouthwash of 310 samples (153 cases and 157 controls). Genotypes were determined using allele-specific PCR and PCR-RFLP techniques for the following polymorphisms: rs2075968 (PRDM16), rs12134493 (TSPAN2), rs10166942 (TRPM8), rs10456100 (KCNK5), rs4910165 (IRAG1), rs11031122 (MPPED2), rs11172113 (LRP1), and rs6081613 (SLC24A3). A case-control analysis was conducted using logistic regression models.

Results: All markers were in Hardy-Weinberg equilibrium in the case group. In the control group, however, rs4910165 (IRAG1) deviated from equilibrium and was therefore excluded from the association analysis (p = 0.0032). Although codominant and dominant models including all markers simultaneously did not yield significant results, in a single-marker analysis, a trend was suggested for the AA genotype of rs2075968 (PRDM16) under a codominant model (p = 0.027; OR = 0.42; 95% CI = 0.20–0.91).

Conclusion: These exploratory findings suggest a potential protective role of the AA genotype of rs2075968 (PRDM16) in migraine with aura in the Buenos Aires Province population. Further studies involving additional PRDM16 variants and larger sample sizes are needed to confirm and expand upon these results.

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