PMC:7040011 / 5018-6563 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/7040011","sourcedb":"PMC","sourceid":"7040011","source_url":"https://www.ncbi.nlm.nih.gov/pmc/7040011","text":"To analyze the distribution of eQTLs for ACE2, we used the Genotype Tissue Expression (GTEx) database (https://www.gtexportal.org/home/datasets). We found 15 unique eQTL variants (14 SNPs and 1 INDELs) for ACE2 with q value ≤ 0.05 in 20 tissues from the GTEx database (rs112171234, rs12010448, rs143695310, rs1996225, rs200781818, rs2158082, rs4060, rs4646127, rs4830974, rs4830983, rs5936011, rs5936029, rs6629110, rs6632704, and rs75979613). The AFs of the 15 eQTL variants were compared among different populations. Notably, our results showed most of the 15 eQTL variants had much higher AFs in the ChinaMAP dataset and EAS populations compared to European populations (Fig. 1c and Supplementary Table S3). The AFs of the top 6 common variants (rs4646127, rs2158082, rs5936011, rs6629110, rs4830983, and rs5936029) were higher than 95% in EAS populations, whereas the AFs of these variants in European populations were much lower (52%–65%). All of the 11 common variants (AF \u003e 0.05) and 1 rare variant (rs143695310) in the 15 eQTLs are associated with high expression of ACE2 in tissues (Supplementary Table S3). For instance, the eQTL variant rs4646127 (log allelic fold change = 0.314), which locates in the intron of ACE2 gene, has the highest AFs in both of the ChinaMAP (0.997) and EAS (0.994) populations. Comparatively, the AFs of rs4646127 in EUR (0.651) and AMR (0.754) populations are much lower. These findings suggested the genotypes of ACE2 gene polymorphism may be associated higher expression levels of ACE2 in EAS population.","tracks":[{"project":"LitCovid-PD-FMA-UBERON","denotations":[{"id":"T18","span":{"begin":68,"end":74},"obj":"Body_part"},{"id":"T19","span":{"begin":237,"end":244},"obj":"Body_part"},{"id":"T20","span":{"begin":1083,"end":1090},"obj":"Body_part"},{"id":"T21","span":{"begin":1214,"end":1220},"obj":"Body_part"},{"id":"T22","span":{"begin":1229,"end":1233},"obj":"Body_part"},{"id":"T23","span":{"begin":1458,"end":1462},"obj":"Body_part"}],"attributes":[{"id":"A18","pred":"fma_id","subj":"T18","obj":"http://purl.org/sig/ont/fma/fma9637"},{"id":"A19","pred":"fma_id","subj":"T19","obj":"http://purl.org/sig/ont/fma/fma9637"},{"id":"A20","pred":"fma_id","subj":"T20","obj":"http://purl.org/sig/ont/fma/fma9637"},{"id":"A21","pred":"fma_id","subj":"T21","obj":"http://purl.org/sig/ont/fma/fma84121"},{"id":"A22","pred":"fma_id","subj":"T22","obj":"http://purl.org/sig/ont/fma/fma74402"},{"id":"A23","pred":"fma_id","subj":"T23","obj":"http://purl.org/sig/ont/fma/fma74402"},{"subj":"T18","pred":"source","obj":"LitCovid-PD-FMA-UBERON"},{"subj":"T19","pred":"source","obj":"LitCovid-PD-FMA-UBERON"},{"subj":"T20","pred":"source","obj":"LitCovid-PD-FMA-UBERON"},{"subj":"T21","pred":"source","obj":"LitCovid-PD-FMA-UBERON"},{"subj":"T22","pred":"source","obj":"LitCovid-PD-FMA-UBERON"},{"subj":"T23","pred":"source","obj":"LitCovid-PD-FMA-UBERON"}]},{"project":"LitCovid-PD-UBERON","denotations":[{"id":"T2","span":{"begin":68,"end":74},"obj":"Body_part"}],"attributes":[{"id":"A2","pred":"uberon_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/UBERON_0000479"},{"subj":"T2","pred":"source","obj":"LitCovid-PD-UBERON"}]},{"project":"LitCovid-PD-CLO","denotations":[{"id":"T28","span":{"begin":935,"end":937},"obj":"http://purl.obolibrary.org/obo/CLO_0001407"},{"id":"T29","span":{"begin":956,"end":958},"obj":"http://purl.obolibrary.org/obo/CLO_0053733"},{"id":"T30","span":{"begin":1229,"end":1233},"obj":"http://purl.obolibrary.org/obo/OGG_0000000002"},{"id":"T31","span":{"begin":1235,"end":1238},"obj":"http://purl.obolibrary.org/obo/CLO_0051582"},{"id":"T32","span":{"begin":1458,"end":1462},"obj":"http://purl.obolibrary.org/obo/OGG_0000000002"}],"attributes":[{"subj":"T28","pred":"source","obj":"LitCovid-PD-CLO"},{"subj":"T29","pred":"source","obj":"LitCovid-PD-CLO"},{"subj":"T30","pred":"source","obj":"LitCovid-PD-CLO"},{"subj":"T31","pred":"source","obj":"LitCovid-PD-CLO"},{"subj":"T32","pred":"source","obj":"LitCovid-PD-CLO"}]},{"project":"LitCovid-PD-CHEBI","denotations":[{"id":"T18","span":{"begin":706,"end":708},"obj":"Chemical"},{"id":"T19","span":{"begin":976,"end":978},"obj":"Chemical"},{"id":"T20","span":{"begin":1112,"end":1114},"obj":"Chemical"}],"attributes":[{"id":"A18","pred":"chebi_id","subj":"T18","obj":"http://purl.obolibrary.org/obo/CHEBI_29388"},{"id":"A19","pred":"chebi_id","subj":"T19","obj":"http://purl.obolibrary.org/obo/CHEBI_73807"},{"id":"A20","pred":"chebi_id","subj":"T20","obj":"http://purl.obolibrary.org/obo/CHEBI_29388"},{"subj":"T18","pred":"source","obj":"LitCovid-PD-CHEBI"},{"subj":"T19","pred":"source","obj":"LitCovid-PD-CHEBI"},{"subj":"T20","pred":"source","obj":"LitCovid-PD-CHEBI"}]},{"project":"LitCovid-sentences","denotations":[{"id":"T38","span":{"begin":0,"end":145},"obj":"Sentence"},{"id":"T39","span":{"begin":146,"end":443},"obj":"Sentence"},{"id":"T40","span":{"begin":444,"end":518},"obj":"Sentence"},{"id":"T41","span":{"begin":519,"end":710},"obj":"Sentence"},{"id":"T42","span":{"begin":711,"end":944},"obj":"Sentence"},{"id":"T43","span":{"begin":945,"end":1116},"obj":"Sentence"},{"id":"T44","span":{"begin":1117,"end":1315},"obj":"Sentence"},{"id":"T45","span":{"begin":1316,"end":1410},"obj":"Sentence"},{"id":"T46","span":{"begin":1411,"end":1545},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"attributes":[{"subj":"T38","pred":"source","obj":"LitCovid-sentences"},{"subj":"T39","pred":"source","obj":"LitCovid-sentences"},{"subj":"T40","pred":"source","obj":"LitCovid-sentences"},{"subj":"T41","pred":"source","obj":"LitCovid-sentences"},{"subj":"T42","pred":"source","obj":"LitCovid-sentences"},{"subj":"T43","pred":"source","obj":"LitCovid-sentences"},{"subj":"T44","pred":"source","obj":"LitCovid-sentences"},{"subj":"T45","pred":"source","obj":"LitCovid-sentences"},{"subj":"T46","pred":"source","obj":"LitCovid-sentences"}]},{"project":"LitCovid-PubTator","denotations":[{"id":"219","span":{"begin":1522,"end":1526},"obj":"Gene"},{"id":"220","span":{"begin":1453,"end":1457},"obj":"Gene"},{"id":"221","span":{"begin":1224,"end":1228},"obj":"Gene"},{"id":"222","span":{"begin":1075,"end":1079},"obj":"Gene"},{"id":"223","span":{"begin":206,"end":210},"obj":"Gene"},{"id":"224","span":{"begin":41,"end":45},"obj":"Gene"},{"id":"225","span":{"begin":1519,"end":1521},"obj":"Gene"},{"id":"226","span":{"begin":1450,"end":1452},"obj":"Gene"},{"id":"227","span":{"begin":1263,"end":1265},"obj":"Gene"},{"id":"228","span":{"begin":1221,"end":1223},"obj":"Gene"},{"id":"229","span":{"begin":876,"end":878},"obj":"Gene"},{"id":"230","span":{"begin":719,"end":721},"obj":"Gene"},{"id":"231","span":{"begin":552,"end":554},"obj":"Gene"},{"id":"232","span":{"begin":452,"end":454},"obj":"Gene"},{"id":"233","span":{"begin":28,"end":30},"obj":"Gene"},{"id":"234","span":{"begin":1530,"end":1533},"obj":"Chemical"},{"id":"235","span":{"begin":976,"end":978},"obj":"Disease"},{"id":"236","span":{"begin":269,"end":280},"obj":"Mutation"},{"id":"237","span":{"begin":282,"end":292},"obj":"Mutation"},{"id":"238","span":{"begin":1007,"end":1018},"obj":"Mutation"},{"id":"239","span":{"begin":307,"end":316},"obj":"Mutation"},{"id":"240","span":{"begin":318,"end":329},"obj":"Mutation"},{"id":"241","span":{"begin":760,"end":769},"obj":"Mutation"},{"id":"242","span":{"begin":342,"end":348},"obj":"Mutation"},{"id":"243","span":{"begin":1342,"end":1351},"obj":"Mutation"},{"id":"244","span":{"begin":361,"end":370},"obj":"Mutation"},{"id":"245","span":{"begin":793,"end":802},"obj":"Mutation"},{"id":"246","span":{"begin":771,"end":780},"obj":"Mutation"},{"id":"247","span":{"begin":808,"end":817},"obj":"Mutation"},{"id":"248","span":{"begin":782,"end":791},"obj":"Mutation"},{"id":"249","span":{"begin":416,"end":425},"obj":"Mutation"},{"id":"250","span":{"begin":431,"end":441},"obj":"Mutation"},{"id":"251","span":{"begin":1148,"end":1157},"obj":"Mutation"},{"id":"252","span":{"begin":331,"end":340},"obj":"Mutation"},{"id":"253","span":{"begin":383,"end":392},"obj":"Mutation"},{"id":"254","span":{"begin":405,"end":414},"obj":"Mutation"},{"id":"255","span":{"begin":372,"end":381},"obj":"Mutation"},{"id":"256","span":{"begin":394,"end":403},"obj":"Mutation"},{"id":"257","span":{"begin":294,"end":305},"obj":"Mutation"},{"id":"258","span":{"begin":749,"end":758},"obj":"Mutation"},{"id":"259","span":{"begin":350,"end":359},"obj":"Mutation"}],"attributes":[{"id":"A219","pred":"tao:has_database_id","subj":"219","obj":"Gene:59272"},{"id":"A220","pred":"tao:has_database_id","subj":"220","obj":"Gene:59272"},{"id":"A221","pred":"tao:has_database_id","subj":"221","obj":"Gene:59272"},{"id":"A222","pred":"tao:has_database_id","subj":"222","obj":"Gene:59272"},{"id":"A223","pred":"tao:has_database_id","subj":"223","obj":"Gene:59272"},{"id":"A224","pred":"tao:has_database_id","subj":"224","obj":"Gene:59272"},{"id":"A225","pred":"tao:has_database_id","subj":"225","obj":"Gene:6688"},{"id":"A226","pred":"tao:has_database_id","subj":"226","obj":"Gene:6688"},{"id":"A227","pred":"tao:has_database_id","subj":"227","obj":"Gene:6688"},{"id":"A228","pred":"tao:has_database_id","subj":"228","obj":"Gene:6688"},{"id":"A229","pred":"tao:has_database_id","subj":"229","obj":"Gene:6688"},{"id":"A230","pred":"tao:has_database_id","subj":"230","obj":"Gene:6688"},{"id":"A231","pred":"tao:has_database_id","subj":"231","obj":"Gene:6688"},{"id":"A232","pred":"tao:has_database_id","subj":"232","obj":"Gene:6688"},{"id":"A233","pred":"tao:has_database_id","subj":"233","obj":"Gene:6688"},{"id":"A235","pred":"tao:has_database_id","subj":"235","obj":"MESH:D001281"},{"id":"A236","pred":"tao:has_standard_notation","subj":"236","obj":"rs112171234"},{"id":"A237","pred":"tao:has_standard_notation","subj":"237","obj":"rs12010448"},{"id":"A238","pred":"tao:has_standard_notation","subj":"238","obj":"rs143695310"},{"id":"A239","pred":"tao:has_standard_notation","subj":"239","obj":"rs1996225"},{"id":"A240","pred":"tao:has_standard_notation","subj":"240","obj":"rs200781818"},{"id":"A241","pred":"tao:has_standard_notation","subj":"241","obj":"rs2158082"},{"id":"A242","pred":"tao:has_standard_notation","subj":"242","obj":"rs4060"},{"id":"A243","pred":"tao:has_standard_notation","subj":"243","obj":"rs4646127"},{"id":"A244","pred":"tao:has_standard_notation","subj":"244","obj":"rs4830974"},{"id":"A245","pred":"tao:has_standard_notation","subj":"245","obj":"rs4830983"},{"id":"A246","pred":"tao:has_standard_notation","subj":"246","obj":"rs5936011"},{"id":"A247","pred":"tao:has_standard_notation","subj":"247","obj":"rs5936029"},{"id":"A248","pred":"tao:has_standard_notation","subj":"248","obj":"rs6629110"},{"id":"A249","pred":"tao:has_standard_notation","subj":"249","obj":"rs6632704"},{"id":"A250","pred":"tao:has_standard_notation","subj":"250","obj":"rs75979613"},{"id":"A251","pred":"tao:has_standard_notation","subj":"251","obj":"rs4646127"},{"id":"A252","pred":"tao:has_standard_notation","subj":"252","obj":"rs2158082"},{"id":"A253","pred":"tao:has_standard_notation","subj":"253","obj":"rs5936011"},{"id":"A254","pred":"tao:has_standard_notation","subj":"254","obj":"rs6629110"},{"id":"A255","pred":"tao:has_standard_notation","subj":"255","obj":"rs4830983"},{"id":"A256","pred":"tao:has_standard_notation","subj":"256","obj":"rs5936029"},{"id":"A257","pred":"tao:has_standard_notation","subj":"257","obj":"rs143695310"},{"id":"A258","pred":"tao:has_standard_notation","subj":"258","obj":"rs4646127"},{"id":"A259","pred":"tao:has_standard_notation","subj":"259","obj":"rs4646127"},{"subj":"219","pred":"source","obj":"LitCovid-PubTator"},{"subj":"220","pred":"source","obj":"LitCovid-PubTator"},{"subj":"221","pred":"source","obj":"LitCovid-PubTator"},{"subj":"222","pred":"source","obj":"LitCovid-PubTator"},{"subj":"223","pred":"source","obj":"LitCovid-PubTator"},{"subj":"224","pred":"source","obj":"LitCovid-PubTator"},{"subj":"225","pred":"source","obj":"LitCovid-PubTator"},{"subj":"226","pred":"source","obj":"LitCovid-PubTator"},{"subj":"227","pred":"source","obj":"LitCovid-PubTator"},{"subj":"228","pred":"source","obj":"LitCovid-PubTator"},{"subj":"229","pred":"source","obj":"LitCovid-PubTator"},{"subj":"230","pred":"source","obj":"LitCovid-PubTator"},{"subj":"231","pred":"source","obj":"LitCovid-PubTator"},{"subj":"232","pred":"source","obj":"LitCovid-PubTator"},{"subj":"233","pred":"source","obj":"LitCovid-PubTator"},{"subj":"234","pred":"source","obj":"LitCovid-PubTator"},{"subj":"235","pred":"source","obj":"LitCovid-PubTator"},{"subj":"236","pred":"source","obj":"LitCovid-PubTator"},{"subj":"237","pred":"source","obj":"LitCovid-PubTator"},{"subj":"238","pred":"source","obj":"LitCovid-PubTator"},{"subj":"239","pred":"source","obj":"LitCovid-PubTator"},{"subj":"240","pred":"source","obj":"LitCovid-PubTator"},{"subj":"241","pred":"source","obj":"LitCovid-PubTator"},{"subj":"242","pred":"source","obj":"LitCovid-PubTator"},{"subj":"243","pred":"source","obj":"LitCovid-PubTator"},{"subj":"244","pred":"source","obj":"LitCovid-PubTator"},{"subj":"245","pred":"source","obj":"LitCovid-PubTator"},{"subj":"246","pred":"source","obj":"LitCovid-PubTator"},{"subj":"247","pred":"source","obj":"LitCovid-PubTator"},{"subj":"248","pred":"source","obj":"LitCovid-PubTator"},{"subj":"249","pred":"source","obj":"LitCovid-PubTator"},{"subj":"250","pred":"source","obj":"LitCovid-PubTator"},{"subj":"251","pred":"source","obj":"LitCovid-PubTator"},{"subj":"252","pred":"source","obj":"LitCovid-PubTator"},{"subj":"253","pred":"source","obj":"LitCovid-PubTator"},{"subj":"254","pred":"source","obj":"LitCovid-PubTator"},{"subj":"255","pred":"source","obj":"LitCovid-PubTator"},{"subj":"256","pred":"source","obj":"LitCovid-PubTator"},{"subj":"257","pred":"source","obj":"LitCovid-PubTator"},{"subj":"258","pred":"source","obj":"LitCovid-PubTator"},{"subj":"259","pred":"source","obj":"LitCovid-PubTator"}],"namespaces":[{"prefix":"Tax","uri":"https://www.ncbi.nlm.nih.gov/taxonomy/"},{"prefix":"MESH","uri":"https://id.nlm.nih.gov/mesh/"},{"prefix":"Gene","uri":"https://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"CVCL","uri":"https://web.expasy.org/cellosaurus/CVCL_"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"LitCovid-PD-FMA-UBERON","color":"#9398ec","default":true},{"id":"LitCovid-PD-UBERON","color":"#b2ec93"},{"id":"LitCovid-PD-CLO","color":"#ec93cc"},{"id":"LitCovid-PD-CHEBI","color":"#93e6ec"},{"id":"LitCovid-sentences","color":"#ecd793"},{"id":"LitCovid-PubTator","color":"#bd93ec"}]}]}}