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Association between sequence variations of the Mediterranean fever gene and the risk of migraine: a case-control
Salih Coşkun1, Sefer Varol2, Hasan H Özdemir2
1Department of Medical Genetics.
Abstract:
Migraine pathogenesis involves a complex interaction between hormones, neurotransmitters, and inflammatory pathways, which also influence the migraine phenotype. The Mediterranean fever gene (MEFV) encodes the pyrin protein. The major role of pyrin appears to be in the regulation of inflammation activity and the processing of the cytokine pro-interleukin-1β, and this cytokine plays a part in migraine pathogenesis. This study included 220 migraine patients and 228 healthy controls. Eight common missense mutations of the MEFV gene, known as M694V, M694I, M680I, V726A, R761H, K695R, P369S, and E148Q, were genotyped using real-time polymerase chain reaction with 5' nuclease assays, which include sequence specific primers, and probes with a reporter dye. When mutations were evaluated separately among the patient and control groups, only the heterozygote E148Q carrier was found to be significantly higher in the control group than in the patient group (P=0.029, odds ratio [95% confidence interval] =0.45 [0.21-0.94]). In addition, the frequency of the homozygote and the compound heterozygote genotype carrier was found to be significantly higher in patients (n=8, 3.6%) than in the control group (n=1, 0.4%) (P=0.016, odds ratio [95% confidence interval] =8.57 [1.06-69.07]). However, there was no statistically significant difference in the allele frequencies of MEFV mutations between the patients and the healthy control group (P=0.964). In conclusion, the results of the present study suggest that biallelic mutations in the MEFV gene could be associated with a risk of migraine in the Turkish population. Moreover, MEFV mutations could be related to increased frequency and short durations of migraine attacks (P=0.043 and P=0.021, respectively). Future studies in larger groups and expression analysis of MEFV are required to clarify the role of the MEFV gene in migraine susceptibility.
Insights
Biallelic mutations in the Mediterranean fever gene (MEFV) may increase migraine risk and attack frequency in the Turkish population. These genetic variations, particularly homozygote and compound heterozygote carriers, show a significant association with migraine.
Area of Science:
- Genetics
- Neurology
- Immunology
Background:
- Migraine pathogenesis involves complex interactions of hormones, neurotransmitters, and inflammatory pathways.
- The Mediterranean fever gene (MEFV) encodes pyrin, a protein crucial for regulating inflammation and processing pro-interleukin-1β, a cytokine implicated in migraine.
Purpose of the Study:
- To investigate the association between common Mediterranean fever gene (MEFV) mutations and migraine risk in the Turkish population.
- To explore the potential link between MEFV gene variations and migraine phenotype, including attack frequency and duration.
Main Methods:
- Genotyping of eight common MEFV missense mutations (M694V, M694I, M680I, V726A, R761H, K695R, P369S, E148Q) in 220 migraine patients and 228 healthy controls using real-time polymerase chain reaction.
- Analysis of mutation frequencies, including heterozygote, homozygote, and compound heterozygote carriers, and allele frequencies between patient and control groups.
- Statistical evaluation using odds ratios and confidence intervals to determine significance.
Main Results:
- The heterozygote E148Q carrier frequency was significantly higher in controls than in patients (P=0.029).
- Homozygote and compound heterozygote MEFV genotype carriers were significantly more frequent in migraine patients (3.6%) compared to controls (0.4%) (P=0.016).
- No significant difference in overall MEFV mutation allele frequencies was observed between groups (P=0.964), but MEFV mutations correlated with increased migraine attack frequency (P=0.043) and shorter durations (P=0.021).
Conclusions:
- Biallelic mutations in the MEFV gene may be associated with an increased risk of migraine in the Turkish population.
- MEFV mutations might influence migraine phenotype, potentially leading to more frequent and shorter attacks.
- Further research with larger cohorts and expression analysis is needed to elucidate the role of MEFV in migraine susceptibility.
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