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. Author manuscript; available in PMC: 2015 Jun 1.
Published in final edited form as: Nat Med. 2014 Nov 24;20(12):1452–1457. doi: 10.1038/nm.3736

Figure 1. Identification of T835M UNC5C as a candidate variant for LOAD.

Figure 1

(a) A large family with a propensity for developing LOAD was selected for study. Linkage arrays were run on the indicated sixteen individuals with available DNA. An affected individual (indicated by *) was whole genome sequenced and a second case was exome sequenced (indicated by **). (b) Linkage results from the pedigree in (a) using a parametric (rare dominant) model. Five regions segregated with LOAD with a LOD score >1.0. (c) A second pedigree in which T835M segregates with LOAD. Heterozygous carriers of T835M are indicated. (d–f) Additional LOAD enriched pedigrees with at least one member heterozygous for UNC5C T835M (rs137875858). Hollow and filled diamonds indicate healthy family members and those diagnosed with AD respectively. A Taqman assay was used to confirm genotype at T835M (rs137875858) and heterozygous carriers are indicated by “+” and non-carriers a “−”. Individuals with an age at last visit of <70 are shaded in blue.