Evaluation of GABBR2 gene polymorphisms rs230416 and rs230429 in migraine with aura: A case-control study in a Turkish population
Ebru Özdemir1
, Abdulgani Tatar2, Gokhan Ozdemir3
1Department of Medical Genetic, Selçuk University Faculty of Medicine, Konya, Türkiye
2Department of Medical Genetic, Atatürk University Faculty of Medicine, Erzurum, Türkiye
3Department of Neurology, Selçuk University Faculty of Medicine, Konya, Türkiye
Keywords: GABA-B receptor, GABBR2, Migraine with aura, rs230416, rs230429.
Abstract
Objectives: This study aimed to investigate the association between two single-nucleotide polymorphisms, rs230416 and rs230429, in the GABBR2 (gamma-aminobutyric acid type B receptor subunit 2) gene and susceptibility to migraine with aura in a Turkish cohort.
Patients and methods: In this case-control study, a total of 100 patients (15 males, 85 females; mean age: 33.68 ± 12.16 years; range, 18 to 55 years) with migraine diagnosed according to the International Classification of Headache Disorders criteria and 100 age- and sex-matched healthy controls (25 males, 75 females; mean age: 33.68 ± 12.16 years; range, 18 to 55 years) were genotyped using the polymerase chain reaction-restriction fragment length polymorphism method between January 2018 and June 2013. Genotype and allele frequencies were compared between groups. The Hardy–Weinberg equilibrium, the chi-square test, and Fisher’s exact test were used for statistical analysis (p < 0.05). Power analysis and genetic equilibrium testing were also performed.
Results: For rs230416, genotype distributions were 10% GG, 30% AG, and 60% AA in migraineurs, and 5% GG, 25% AG, and 70% AA in controls (p = 0.15). Minor allele (G) frequencies were 25% in cases and 17.5% in controls (p = 0.07). For rs230429, distributions were 10% TT, 38% CT, and 52% CC in patients, and 8% TT, 34% CT, and 58% CC in controls (p = 0.42), with T allele frequencies of 29% and 25%, respectively (p = 0.45). All genotype distributions conformed to the Hardy-Weinberg equilibrium.
Conclusion: Although this study did not find a significant association between rs230416 or rs230429 and migraine susceptibility, the findings contribute to the growing literature supporting a minor but biologically relevant role of gamma-aminobutyric acidmediated pathways in migraine. Future studies with larger, ethnically diverse cohorts and integrative omics approaches are warranted to clarify the functional impact of GABBR2 variants.
Cite this article as: Özdemir E, Tatar A, Ozdemir G. Evaluation of GABBR2 gene polymorphisms rs230416 and rs230429 in migraine with aura: A case-control study in a Turkish population. Turk J Neurol 2026;32(1):69-74. https://doi.org/10.55697/tnd.2026.513.