Keta Joshipura

TL;DR: This work has carried out whole-genome genotyping and expression analysis on a series of 193 neuropathologically normal human brain samples using the Affymetrix GeneChip Human Mapping 500K Array Set and Illumina HumanRefseq-8 Expression BeadChip platforms and presents data showing that 58% of the transcriptome is cortically expressed in at least 5% of the authors' samples and that of these cortically expression transcripts, 21% have expression profiles that correlate with their genotype.

TL;DR: The findings suggest that GAB2 modifies LOAD risk in APOE epsilon4 carriers and influences Alzheimer's neuropathology.

TL;DR: This study shows how the relationship between common inherited genetic variants and brain transcript expression can be used in the study of human brain disorders and suggests that studying the transcriptome as a quantitative endo-phenotype has greater power for discovering risk SNPs influencing expression than the use of discrete diagnostic categories.

TL;DR: Variants of FLJ10986 may confer susceptibility to sporadic ALS and 50 other candidate loci warrant further investigation for their potential role in conferring susceptibility to the disease.

TL;DR: KIBRA is associated with both individual variation in normal episodic memory and predisposition to AD, and non-carriers of the KIBRA T-allele had increased risk of late-onset AD.