Early studies have indicated that the risk of migraine is contributed by both genetic and environmental factors. We aimed to evaluate the association between the risk of migraine and genetic polymorphisms in the ANKDD1B gene in a large sample of Chinese Han populations. A total of 882 patients with MO and 1,784 age-matched controls were recruited. A list of 12 tag SNPs located within the ANKDD1B gene region was genotyped. Distributions of SNP genotypes and alleles between patients and controls were examined to investigate the associations between the risk of migraine and genetic polymorphisms. The GTEx database was used to examine the effects of the significant SNPs on gene expressions. A stop-gain SNP, rs34358, was discovered to be significantly related with the risk of migraine (χ2 = 25.02, P = 5.66 × 10−7). The A allele of this SNP was significantly associated with a decreased risk of migraine (OR [95% CI] = 0.73 [0.65–0.83]). A dose-dependent pattern was identified in the genotypic analyses. The OR with 95% confidence interval for genotype AA versus GG was 0.55 [0.42–0.72], while for AG versus GG it was 0.74 [0.62–0.88]. Further bioinformatics analysis showed multiple significant signals (20 out of 47) for the association between SNP rs34358 and gene expression levels of ANKDD1B. In conclusion, we have provided population-based evidence for the association between genetic polymorphisms of the ANKDD1B gene and the risk of migraine. A protein-truncating variant was significantly associated with a decreased risk of migraine in the samples recruited from the Chinese Han population.
