<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><translated-authors><author><style face="normal" font="default" size="100%">GTEx Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">The GTEx Consortium atlas of genetic regulatory effects across human tissues.</style></title><secondary-title><style face="normal" font="default" size="100%">Science</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Science</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Datasets as Topic</style></keyword><keyword><style  face="normal" font="default" size="100%">Disease</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression Regulation</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome-Wide Association Study</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Organ Specificity</style></keyword><keyword><style  face="normal" font="default" size="100%">Quantitative Trait Loci</style></keyword><keyword><style  face="normal" font="default" size="100%">Sequence Analysis, RNA</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2020</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2020 09 11</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">369</style></volume><pages><style face="normal" font="default" size="100%">1318-1330</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;The Genotype-Tissue Expression (GTEx) project was established to characterize genetic effects on the transcriptome across human tissues and to link these regulatory mechanisms to trait and disease associations. Here, we present analyses of the version 8 data, examining 15,201 RNA-sequencing samples from 49 tissues of 838 postmortem donors. We comprehensively characterize genetic associations for gene expression and splicing in cis and trans, showing that regulatory associations are found for almost all genes, and describe the underlying molecular mechanisms and their contribution to allelic heterogeneity and pleiotropy of complex traits. Leveraging the large diversity of tissues, we provide insights into the tissue specificity of genetic effects and show that cell type composition is a key factor in understanding gene regulatory mechanisms in human tissues.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">6509</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/32913098?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Emdin, Connor A</style></author><author><style face="normal" font="default" size="100%">Haas, Mary E</style></author><author><style face="normal" font="default" size="100%">Khera, Amit V</style></author><author><style face="normal" font="default" size="100%">Aragam, Krishna</style></author><author><style face="normal" font="default" size="100%">Chaffin, Mark</style></author><author><style face="normal" font="default" size="100%">Klarin, Derek</style></author><author><style face="normal" font="default" size="100%">Hindy, George</style></author><author><style face="normal" font="default" size="100%">Jiang, Lan</style></author><author><style face="normal" font="default" size="100%">Wei, Wei-Qi</style></author><author><style face="normal" font="default" size="100%">Feng, Qiping</style></author><author><style face="normal" font="default" size="100%">Karjalainen, Juha</style></author><author><style face="normal" font="default" size="100%">Havulinna, Aki</style></author><author><style face="normal" font="default" size="100%">Kiiskinen, Tuomo</style></author><author><style face="normal" font="default" size="100%">Bick, Alexander</style></author><author><style face="normal" font="default" size="100%">Ardissino, Diego</style></author><author><style face="normal" font="default" size="100%">Wilson, James G</style></author><author><style face="normal" font="default" size="100%">Schunkert, Heribert</style></author><author><style face="normal" font="default" size="100%">McPherson, Ruth</style></author><author><style face="normal" font="default" size="100%">Watkins, Hugh</style></author><author><style face="normal" font="default" size="100%">Elosua, Roberto</style></author><author><style face="normal" font="default" size="100%">Bown, Matthew J</style></author><author><style face="normal" font="default" size="100%">Samani, Nilesh J</style></author><author><style face="normal" font="default" size="100%">Baber, Usman</style></author><author><style face="normal" font="default" size="100%">Erdmann, Jeanette</style></author><author><style face="normal" font="default" size="100%">Gupta, Namrata</style></author><author><style face="normal" font="default" size="100%">Danesh, John</style></author><author><style face="normal" font="default" size="100%">Saleheen, Danish</style></author><author><style face="normal" font="default" size="100%">Chang, Kyong-Mi</style></author><author><style face="normal" font="default" size="100%">Vujkovic, Marijana</style></author><author><style face="normal" font="default" size="100%">Voight, Ben</style></author><author><style face="normal" font="default" size="100%">Damrauer, Scott</style></author><author><style face="normal" font="default" size="100%">Lynch, Julie</style></author><author><style face="normal" font="default" size="100%">Kaplan, David</style></author><author><style face="normal" font="default" size="100%">Serper, Marina</style></author><author><style face="normal" font="default" size="100%">Tsao, Philip</style></author><author><style face="normal" font="default" size="100%">Mercader, Josep</style></author><author><style face="normal" font="default" size="100%">Hanis, Craig</style></author><author><style face="normal" font="default" size="100%">Daly, Mark</style></author><author><style face="normal" font="default" size="100%">Denny, Joshua</style></author><author><style face="normal" font="default" size="100%">Gabriel, Stacey</style></author><author><style face="normal" font="default" size="100%">Kathiresan, Sekar</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">Million Veteran Program</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease.</style></title><secondary-title><style face="normal" font="default" size="100%">PLoS Genet</style></secondary-title><alt-title><style face="normal" font="default" size="100%">PLoS Genet</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Alleles</style></keyword><keyword><style  face="normal" font="default" size="100%">Cholesterol, LDL</style></keyword><keyword><style  face="normal" font="default" size="100%">Coronary Artery Disease</style></keyword><keyword><style  face="normal" font="default" size="100%">Datasets as Topic</style></keyword><keyword><style  face="normal" font="default" size="100%">Fatty Liver</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Predisposition to Disease</style></keyword><keyword><style  face="normal" font="default" size="100%">Homozygote</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Liver</style></keyword><keyword><style  face="normal" font="default" size="100%">Liver Cirrhosis</style></keyword><keyword><style  face="normal" font="default" size="100%">Liver Cirrhosis, Alcoholic</style></keyword><keyword><style  face="normal" font="default" size="100%">Loss of Function Mutation</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Middle Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Mitochondrial Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Mutation, Missense</style></keyword><keyword><style  face="normal" font="default" size="100%">Oxidoreductases</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2020</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2020 04</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">16</style></volume><pages><style face="normal" font="default" size="100%">e1008629</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Analyzing 12,361 all-cause cirrhosis cases and 790,095 controls from eight cohorts, we identify a common missense variant in the Mitochondrial Amidoxime Reducing Component 1 gene (MARC1 p.A165T) that associates with protection from all-cause cirrhosis (OR 0.91, p = 2.3*10-11). This same variant also associates with lower levels of hepatic fat on computed tomographic imaging and lower odds of physician-diagnosed fatty liver as well as lower blood levels of alanine transaminase (-0.025 SD, 3.7*10-43), alkaline phosphatase (-0.025 SD, 1.2*10-37), total cholesterol (-0.030 SD, p = 1.9*10-36) and LDL cholesterol (-0.027 SD, p = 5.1*10-30) levels. We identified a series of additional MARC1 alleles (low-frequency missense p.M187K and rare protein-truncating p.R200Ter) that also associated with lower cholesterol levels, liver enzyme levels and reduced risk of cirrhosis (0 cirrhosis cases for 238 R200Ter carriers versus 17,046 cases of cirrhosis among 759,027 non-carriers, p = 0.04) suggesting that deficiency of the MARC1 enzyme may lower blood cholesterol levels and protect against cirrhosis.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">4</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/32282858?dopt=Abstract</style></custom1></record></records></xml>