Table 1

Top 5 genes from a gene-based segregation test (GESE) of 34 rare variants in 14 genes under the linkage peak

GeneRare variants/ segregating rare variants, nObserved probabilityp valueWeighted p value
NRBF21/10.000150.000510.00538
PCDH1510/20.000170.007740.00220
ASAH2*1/10.001410.012750.00408
ANK35/10.004540.044150.01403
JMJD1C7/20.020670.247280.09346
  • The number of rare variants per gene relative to the number of rare variants segregating with bipolar disorder status across the 15 families with bipolar disorder (n = 117 individuals). The observed segregating probability for each gene is provided, as is the basic gene-based p value for association after simulations and the genebased p value after per-family weight corrections. Suggestive p values (< 0.1) are reported.

  • * Genes not expressed in the brain (defined by reads per kilobase per million [RPKM] < 1 in developmental transcriptomics RNA sequence data, representing 65% of mapped genes).