<?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><authors><author><style face="normal" font="default" size="100%">Kelly, Derek E</style></author><author><style face="normal" font="default" size="100%">Ramdas, Shweta</style></author><author><style face="normal" font="default" size="100%">Ma, Rong</style></author><author><style face="normal" font="default" size="100%">Rawlings-Goss, Renata A</style></author><author><style face="normal" font="default" size="100%">Grant, Gregory R</style></author><author><style face="normal" font="default" size="100%">Ranciaro, Alessia</style></author><author><style face="normal" font="default" size="100%">Hirbo, Jibril B</style></author><author><style face="normal" font="default" size="100%">Beggs, William</style></author><author><style face="normal" font="default" size="100%">Yeager, Meredith</style></author><author><style face="normal" font="default" size="100%">Chanock, Stephen</style></author><author><style face="normal" font="default" size="100%">Nyambo, Thomas B</style></author><author><style face="normal" font="default" size="100%">Omar, Sabah A</style></author><author><style face="normal" font="default" size="100%">Woldemeskel, Dawit</style></author><author><style face="normal" font="default" size="100%">Belay, Gurja</style></author><author><style face="normal" font="default" size="100%">Li, Hongzhe</style></author><author><style face="normal" font="default" size="100%">Brown, Christopher D</style></author><author><style face="normal" font="default" size="100%">Tishkoff, Sarah A</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">The genetic and evolutionary basis of gene expression variation in East Africans.</style></title><secondary-title><style face="normal" font="default" size="100%">Genome Biol</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Genome Biol</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Chromosome Mapping</style></keyword><keyword><style  face="normal" font="default" size="100%">East African People</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Variation</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Quantitative Trait Loci</style></keyword><keyword><style  face="normal" font="default" size="100%">Tanzania</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2023</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2023 Feb 24</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">24</style></volume><pages><style face="normal" font="default" size="100%">35</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;&lt;b&gt;BACKGROUND: &lt;/b&gt;Mapping of quantitative trait loci (QTL) associated with molecular phenotypes is a powerful approach for identifying the genes and molecular mechanisms underlying human traits and diseases, though most studies have focused on individuals of European descent. While important progress has been made to study a greater diversity of human populations, many groups remain unstudied, particularly among indigenous populations within Africa. To better understand the genetics of gene regulation in East Africans, we perform expression and splicing QTL mapping in whole blood from a cohort of 162 diverse Africans from Ethiopia and Tanzania. We assess replication of these QTLs in cohorts of predominantly European ancestry and identify candidate genes under selection in human populations.&lt;/p&gt;

&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;We find the gene regulatory architecture of African and non-African populations is broadly shared, though there is a considerable amount of variation at individual loci across populations. Comparing our analyses to an equivalently sized cohort of European Americans, we find that QTL mapping in Africans improves the detection of expression QTLs and fine-mapping of causal variation. Integrating our QTL scans with signatures of natural&amp;nbsp;selection, we find several genes related to immunity and metabolism that are highly differentiated between Africans and non-Africans, as well as a gene associated with pigmentation.&lt;/p&gt;

&lt;p&gt;&lt;b&gt;CONCLUSION: &lt;/b&gt;Extending QTL mapping studies beyond European ancestry, particularly to diverse indigenous populations, is vital for a complete understanding of the genetic architecture of human traits and can reveal novel functional variation underlying human traits and disease.&lt;/p&gt;
</style></abstract><issue><style face="normal" font="default" size="100%">1</style></issue><custom1><style face="normal" font="default" size="100%">&lt;p&gt;https://www.ncbi.nlm.nih.gov/pubmed/36829244?dopt=Abstract&lt;/p&gt;
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