Article
Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder.
Nature communications - 18 Jun 2021
Nishioka Masaki, Kazuno An-A, Nakamura Takumi, Sakai Naomi, Hayama Takashi, Fujii Kumiko, Matsuo Koji, Komori Atsuko, Ishiwata Mizuho, Watanabe Yoshinori, Oka Takashi, Matoba Nana, Kataoka Muneko, Alkanaq Ahmed N, Hamanaka Kohei, Tsuboi Takashi, Sengoku Toru, Ogata Kazuhiro, Iwata Nakao, Ikeda Masashi, Matsumoto Naomichi, Kato Tadafumi, Takata Atsushi
Abstract excerpt
Bipolar disorder is a severe mental illness characterized by recurrent manic and depressive episodes. To better understand its genetic architecture, we analyze ultra-rare de novo mutations in 354 trios with bipolar disorder. For germline de novo mutations, we find significant enrichment of loss-of-function mutations in constrained genes (corrected-P = 0.0410) and deleterious mutations in presynaptic active zone...
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