BMC Medicine
Gene-brain-behavior links revealing generative neurophysiological subtypes of suicide-related dysconnectivity in bipolar depression
By Ting Wang, Xinruo Wei, Na Shen and 11 others.
Abstract
Suicidal thoughts and behaviors (STBs) in bipolar depression are heterogeneous, but biologically coherent subtypes remain poorly defined. We aimed to identify neurophysiological subtypes of suicide-related dysconnectivity in bipolar depression and examine their gene-brain-behavior correlates, reproducibility and longitudinal clinical relevance. We analyzed multimodal data from 802 individuals, including cross-sectional resting-state functional MRI from 657 patients with bipolar depression (405 with current-episode STBs and 252 without STBs) and 103 healthy controls across one discovery and two independent replication cohorts, together with longitudinal follow-up in 42 patients. A semi-supervised clustering-generative adversarial network (Smile-GAN) was applied to identify imaging-defined subtypes referenced to patients without STBs. Subtypes were characterized using symptoms, cognition, transcriptomic and neurotransmitter maps, targeted sequencing of 61 suicide-related single nucleotide polymorphisms, and exploratory early treatment response to pharmacotherapy and repetitive transcranial magnetic stimulation (rTMS). Two reproducible neurophysiological subtypes were identified. A visual cortex-predominant subtype showed hyperconnectivity associated with greater anxiety and poorer cognitive flexibility and working memory. In this subtype, a 3-single nucleotide polymorphism serotonergic genetic risk score derived from rs1631327/rs6320 ( HTR5A ) and rs8066602 ( SLC6A4 ) was associated with current-episode STBs, and its effect was partially mediated by right peripheral visual dysconnectivity (portion of mediated = 11.4%, β = 1.94e-2, p <.05, 95% CI=[1.08e-03, 0.05]). A default mode network-central executive network (DMN-CEN)-predominant subtype was characterized by hyperconnectivity linked to brooding rumination. In exploratory analyses, among rs8066602 TC/TT carriers within the DMN-CEN subtype, patients with STBs showed greater 2-week symptom improvement following pharmacotherapy and rTMS than those without STBs ( β = 31.01, p <.01, 95% CI=[16.94, 45.08]). Subtype-specific dysconnectivity patterns replicated across independent cohorts (replication-1: r = .80/0.64; replication-2: r = .65/0.73, adjusted p spin <0.001) and covaried longitudinally with suicide-risk fluctuations. Our findings suggest that suicide-related dysconnectivity in bipolar depression may be organized into two reproducible neurophysiological subtypes with distinct gene-brain-behavior profiles. These findings support subtype-informed stratification of suicide risk, although the genetic and treatment-related signals remain preliminary and require prospective replication.



