التفاصيل البيبلوغرافية
| العنوان: |
Immune-response 3′UTR alternative polyadenylation quantitative trait loci contribute to variation in human complex traits and diseases. |
| المؤلفون: |
Li, Lei, Ma, Xuelian, Cui, Ya, Rotival, Maxime, Chen, Wenyan, Zou, Xudong, Ding, Ruofan, Qin, Yangmei, Wang, Qixuan, Quintana-Murci, Lluis, Li, Wei |
| المصدر: |
Nature Communications; 12/15/2023, Vol. 14 Issue 1, p1-12, 12p |
| مصطلحات موضوعية: |
LOCUS (Genetics), GENOME-wide association studies, HUMAN genes, ETIOLOGY of diseases |
| مستخلص: |
Genome-wide association studies (GWASs) have identified thousands of non-coding variants that are associated with human complex traits and diseases. The analysis of such GWAS variants in different contexts and physiological states is essential for deciphering the regulatory mechanisms underlying human disease. Alternative polyadenylation (APA) is a key post-transcriptional modification for most human genes that substantially impacts upon cell behavior. Here, we mapped 9,493 3′-untranslated region APA quantitative trait loci in 18 human immune baseline cell types and 8 stimulation conditions (immune 3′aQTLs). Through the comparison between baseline and stimulation data, we observed the high responsiveness of 3′aQTLs to immune stimulation (response 3′aQTLs). Co-localization and mendelian randomization analyses of immune 3′aQTLs identified 678 genes where 3′aQTL are associated with variation in complex traits, 27.3% of which were derived from response 3′aQTLs. Overall, these analyses reveal the role of immune 3′aQTLs in the determination of complex traits, providing new insights into the regulatory mechanisms underlying disease etiologies. Alternative polyadenylation (APA) has a key role in the post-transcriptional regulation of most human genes but is understudied in cells of the immune system. Here, the authors construct an atlas of cell type-specific APA events in various immune cell-types and stimulation conditions, providing evidence of widespread stimulation-responsiveness and association with immune-related traits. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
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