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Your search keyword '"Minerva M Carrasquillo"' showing total 2 results
Start Over Author "Minerva M Carrasquillo" Journal plos genetics
2 results on '"Minerva M Carrasquillo"'

1. Identifying drug targets for neurological and psychiatric disease via genetics and the brain transcriptome.

Author

Denis A Baird, Jimmy Z Liu, Jie Zheng, Solveig K Sieberts, Thanneer Perumal, Benjamin Elsworth, Tom G Richardson, Chia-Yen Chen, Minerva M Carrasquillo, Mariet Allen, Joseph S Reddy, Philip L De Jager, Nilufer Ertekin-Taner, Lara M Mangravite, Ben Logsdon, Karol Estrada, Philip C Haycock, Gibran Hemani, Heiko Runz, George Davey Smith, Tom R Gaunt, and AMP-AD eQTL working group

Subjects
Genetics, QH426-470
Abstract

Discovering drugs that efficiently treat brain diseases has been challenging. Genetic variants that modulate the expression of potential drug targets can be utilized to assess the efficacy of therapeutic interventions. We therefore employed Mendelian Randomization (MR) on gene expression measured in brain tissue to identify drug targets involved in neurological and psychiatric diseases. We conducted a two-sample MR using cis-acting brain-derived expression quantitative trait loci (eQTLs) from the Accelerating Medicines Partnership for Alzheimer's Disease consortium (AMP-AD) and the CommonMind Consortium (CMC) meta-analysis study (n = 1,286) as genetic instruments to predict the effects of 7,137 genes on 12 neurological and psychiatric disorders. We conducted Bayesian colocalization analysis on the top MR findings (using P

Published
2021
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2. Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants.

Author

Fanggeng Zou, High Seng Chai, Curtis S Younkin, Mariet Allen, Julia Crook, V Shane Pankratz, Minerva M Carrasquillo, Christopher N Rowley, Asha A Nair, Sumit Middha, Sooraj Maharjan, Thuy Nguyen, Li Ma, Kimberly G Malphrus, Ryan Palusak, Sarah Lincoln, Gina Bisceglio, Constantin Georgescu, Naomi Kouri, Christopher P Kolbert, Jin Jen, Jonathan L Haines, Richard Mayeux, Margaret A Pericak-Vance, Lindsay A Farrer, Gerard D Schellenberg, Alzheimer's Disease Genetics Consortium, Ronald C Petersen, Neill R Graff-Radford, Dennis W Dickson, Steven G Younkin, and Nilüfer Ertekin-Taner

Subjects
Genetics, QH426-470
Abstract

Genetic variants that modify brain gene expression may also influence risk for human diseases. We measured expression levels of 24,526 transcripts in brain samples from the cerebellum and temporal cortex of autopsied subjects with Alzheimer's disease (AD, cerebellar n=197, temporal cortex n=202) and with other brain pathologies (non-AD, cerebellar n=177, temporal cortex n=197). We conducted an expression genome-wide association study (eGWAS) using 213,528 cisSNPs within ± 100 kb of the tested transcripts. We identified 2,980 cerebellar cisSNP/transcript level associations (2,596 unique cisSNPs) significant in both ADs and non-ADs (q

Published
2012
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