Rare variant association study of veteran twin whole-genomes links severe depression with a nonsynonymous change in the neuronal gene BHLHE22.
Daniel HupaloChristopher W ForsbergJack GoldbergWilliam S KremenMichael J LyonsAnthony R SoltisCoralie ViolletRobert J UrsanoMurray B SteinCarol E FranzYan V SunViola VaccarinoNicholas L SmithClifton L DalgardMatthew D WilkersonHarvey B PollardPublished in: The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry (2021)
The gene BHLHE22 shows compelling genetic evidence of directly impacting the severe depression phenotype. Together these results advance understanding of the genetic contribution to major depressive disorder in a new cohort and link a rare variant to severe forms of the disorder.