Familial analysis reveals rare risk variants for migraine in regulatory regions.

ABSTRACT: The most recent genome-wide association study of migraine increased the total number of known migraine risk loci to 38. Still, most of the heritability of migraine remains unexplained, and it has been suggested that rare gene dysregulatory variants play an important role in migraine etiology. Addressing the missing heritability of migraine, we aim to fine-map signals from the known migraine risk loci to regulatory mechanisms and associate these to downstream genic targets. We analyzed a large cohort of whole-genome sequenced patients from extended migraine pedigrees (1040 individuals from 155 families). We test for association between rare variants segregating in regulatory regions with migraine. The findings were replicated in an independent case-control cohort (2027 migraineurs, 1650 con

SUBMITTER: Techlo TR 

PROVIDER: S-EPMC7283211 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature