Association Study of MTHFD1 Coding Polymorphisms R134K and R653Q With Migraine Susceptibility

摘要: Objective There is evidence that folate metabolism has a role in migraine pathophysiology, particularly the with aura (MA) subtype. In this study, we investigate whether two non-synonymous single nucleotide polymorphisms (SNPs), rs1950902 (C401T; R134K) and rs2236225 (G1958A; R653Q), MTHF dehydrogenase (MTHFD1) are associated an Australian case-control population. Background Increased plasma levels of homocysteine, one metabolites produced pathway, been found to be risk factor for migraine. There also genetic link: common polymorphism (rs1801133, C667T) reduces catalytic activity enzyme catalyzes formation methylenetetrahydrofolate reductase (MTHFR), increase MA. MTHFD1 crucial multifunctional three separate reactions pathway therefore variants may influence susceptibility. Methods The R134K R653Q were genotyped cohort 520 unrelated migraineurs (162 diagnosed without [MO] 358 MA) matched controls. Data analyzed association interaction MTHFR C667T polymorphism. Results We find no significant differences genotype or allele frequencies either SNP between controls, when MO MA cases compared addition, these did not appear conferred by 667T allele. Conclusions We our population. However, as appears important migraine, respect component, future studies using high throughput methods expand number SNPs folate-related genes investigation interactions justified.