Fig. 1.

Associations of BD with 5,730 uncommon coding and noncoding SNVs in 3,087 candidate genes. (A) –log10(P values) for the association of individual SNVs with BD, plotted by chromosomal position. P values were calculated using linear mixed models implemented with EMMAX (13). SNVs with significant associations (FDR < 10%) are indicated. (B) Uniform, quantile-quantile plot for the observed vs. null-expectation distribution of P values. Positive deviation from the null indicates the presence of true signal and effective accounting for family and population structure. (C) A missense SNV in the GABA receptor gene GABRA6 was associated with risk for BD (P = 3.0e-5). This SNV was identified in a total of 13 BD cases, 2 major depression cases, and 1 unaffected individual across seven pedigrees. Diamonds below an individual indicate WGS (filled, contains variant; unfilled, does not contain variant). BPI, bipolar disorder, type I; BPII, bipolar disorder, type II; MDDR, major depressive disorder, recurrent; NMI, no mental illness; OTH, other axis I or axis II diagnosis; SA, schizoaffective disorder; SEMD, single episode of major depression; UNK, unknown phenotype (not ascertained).