Sökning: WFRF:(Hayes Richard B) > Implicating genes, ...
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000 | 27727naa a2207225 4500 | |
001 | oai:gup.ub.gu.se/325849 | |
003 | SwePub | |
008 | 240910s2022 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:151971555 | |
009 | oai:DiVA.org:uu-498949 | |
009 | oai:lup.lub.lu.se:2892d8c3-156f-46d0-bbaf-84669e3b9936 | |
024 | 7 | a https://gup.ub.gu.se/publication/3258492 URI |
024 | 7 | a https://doi.org/10.1186/s13059-022-02837-12 DOI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1519715552 URI |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4989492 URI |
024 | 7 | a https://lup.lub.lu.se/record/2892d8c3-156f-46d0-bbaf-84669e3b99362 URI |
040 | a (SwePub)gud (SwePub)kid (SwePub)uud (SwePub)lu | |
041 | a eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Kanoni, Stavroulau Queen Mary Univ London, Barts & London Sch Med & Dent, William Harvey Res Inst, Charterhouse Sq, London EC1M 6BQ, England,Queen Mary University4 aut |
245 | 1 0 | a Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis. |
264 | c 2022-12-27 | |
264 | 1 | b Springer Science and Business Media LLC,c 2022 |
500 | a For complete list of authors see http://dx.doi.org/10.1186/s13059-022-02837-1 | |
520 | a Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery.To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N=1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3-5% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism.Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Endokrinologi och diabetes0 (SwePub)302052 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Endocrinology and Diabetes0 (SwePub)302052 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
653 | a Humans | |
653 | a Genome-Wide Association Study | |
653 | a Genetic Predisposition to Disease | |
653 | a Sex Characteristics | |
653 | a Phenotype | |
653 | a Lipids | |
653 | a genetics | |
653 | a Polymorphism | |
653 | a Single Nucleotide | |
653 | a Genetic Pleiotropy | |
653 | a Cholesterol | |
653 | a Cholesterol | |
653 | a Genetics | |
653 | a Genome-wide association study | |
653 | a GWAS | |
653 | a lipid | |
653 | a genetic predisposition | |
653 | a genome-wide association study | |
653 | a human | |
653 | a meta analysis | |
653 | a phenotype | |
653 | a pleiotropy | |
653 | a sexual characteristics | |
653 | a single nucleotide polymorphism | |
653 | a Polymorphism, Single Nucleotide | |
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773 | 0 | t Genome biologyd : Springer Science and Business Media LLCg 23:1q 23:1x 1474-760Xx 1465-6906x 1474-7596 |
856 | 4 | u https://doi.org/10.1186/s13059-022-02837-1y Fulltext |
856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:1745114/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
856 | 4 | u http://dx.doi.org/10.1186/s13059-022-02837-1x freey FULLTEXT |
856 | 4 8 | u https://gup.ub.gu.se/publication/325849 |
856 | 4 8 | u https://doi.org/10.1186/s13059-022-02837-1 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:151971555 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-498949 |
856 | 4 8 | u https://lup.lub.lu.se/record/2892d8c3-156f-46d0-bbaf-84669e3b9936 |
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