Asset Details
Do you wish to reserve the book?
Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration
Do you wish to request the book?
Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration
2019
Overview
Genome-wide association studies (GWAS) have identified genetic variants at 34 loci contributing to age-related macular degeneration (AMD)
1
–
3
. We generated transcriptional profiles of postmortem retinas from 453 controls and cases at distinct stages of AMD and integrated retinal transcriptomes, covering 13,662 protein-coding and 1,462 noncoding genes, with genotypes at more than 9 million common SNPs for expression quantitative trait loci (eQTL) analysis of a tissue not included in Genotype-Tissue Expression (GTEx) and other large datasets
4
,
5
. Cis-eQTL analysis identified 10,474 genes under genetic regulation, including 4,541 eQTLs detected only in the retina. Integrated analysis of AMD-GWAS with eQTLs ascertained likely target genes at six reported loci. Using transcriptome-wide association analysis (TWAS), we identified three additional genes,
RLBP1
,
HIC1
and
PARP12
, after Bonferroni correction. Our studies expand the genetic landscape of AMD and establish the Eye Genotype Expression (EyeGEx) database as a resource for post-GWAS interpretation of multifactorial ocular traits.
The authors transcriptionally profiled postmortem retinas from 453 age-related macular degeneration (AMD) cases and controls. Integration of AMD GWAS with eQTL analysis and TWAS identified several AMD-associated genes.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Age
/ Analysis
/ Animal Genetics and Genomics
/ Biomedical and Life Sciences
/ Gene Expression Profiling - methods
/ Gene Expression Regulation - genetics
/ Genes
/ Genetic Predisposition to Disease - genetics
/ Genome-wide association studies
/ Genome-Wide Association Study - methods
/ Genomes
/ Genomics
/ Genotype
/ Humans
/ Letter
/ Macular Degeneration - genetics
/ Ontology
/ Polymorphism, Single Nucleotide - genetics
/ Principal components analysis
/ Proteins
/ Quantitative Trait Loci - genetics
/ Retina
