Fig. 2.
Linkage on chromosome 10q11.23-q21.3 after refining the interval with additional markers. (A) A schematic of the linkage interval between the proximal and distal boundaries from rs12571253 to rs2105702 (73–89 cM) on chromosome 10q11.23-q21.3 after refining the linkage interval with an additional 5 SNPs. The maximum LOD score was found at rs10761725 under the exponential model (LODexp = 3.103, p = 7.84 × E−5) with a significant empirical p value (p = 0.046) after 10 000 simulations of permuted phenotypes. The locations of known protein-coding genes in the linkage interval are provided, and the position of the conditional linkage SNPs rs10994397 and rs9804190 in ANK3 are shown. (B) A schematic of the ANK3 gene is depicted in the context of the position of the rare variants identified (reference sequence for ANK3 isoform-3: NM_001204403, ENST00000373827; protein NP_001191332, unless indicated with reference to NM_020987 or NP_066267 for isoform-1). Alternative exons from the main isoform are depicted in yellow. The location of the bipolar-disorder-associated SNPs rs10994397 and rs9804190 used in the conditional linkage are shown in introns 2 and 36, respectively. LOD = logarithm of the odds (for linkage); SNP = single nucleotide polymorphism.