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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
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| 001 | oai:DiVA.org:umu-178121 | |
| 003 | SwePub | |
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| 009 | oai:DiVA.org:uu-431051 | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1781212 URI |
| 024 | 7 | a https://doi.org/10.1038/s41588-020-00713-x2 DOI |
| 024 | 7 | a https://lup.lub.lu.se/record/ab3cf679-db71-435f-9907-67f295345e042 URI |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4310512 URI |
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| 041 | a engb eng | |
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| 100 | 1 | a Surendran, Praveenu University of Cambridge4 aut |
| 245 | 1 0 | a Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals |
| 264 | c 2020-11-23 | |
| 264 | 1 | b Nature Publishing Group,c 2020 |
| 338 | a print2 rdacarrier | |
| 500 | a Errata: Surendran, P., Feofanova, E.V., Lahrouchi, N. et al. Publisher Correction: Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals. Nature Genetics 53, 762 (2021). https://doi.org/10.1038/s41588-021-00832-z | |
| 520 | a Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05). In a meta-analysis of up to similar to 1.3 million participants, we discovered 106 new BP-associated genomic regions and 87 rare (minor allele frequency <= 0.01) variant BP associations (P < 5 x 10(-8)), of which 32 were in new BP-associated loci and 55 were independent BP-associated single-nucleotide variants within known BP-associated regions. Average effects of rare variants (44% coding) were similar to 8 times larger than common variant effects and indicate potential candidate causal genes at new and known loci (for example, GATA5 and PLCB3). BP-associated variants (including rare and common) were enriched in regions of active chromatin in fetal tissues, potentially linking fetal development with BP regulation in later life. Multivariable Mendelian randomization suggested possible inverse effects of elevated systolic and diastolic BP on large artery stroke. Our study demonstrates the utility of rare-variant analyses for identifying candidate genes and the results highlight potential therapeutic targets. | |
| 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 |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Kardiologi0 (SwePub)302062 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cardiac and Cardiovascular Systems0 (SwePub)302062 hsv//eng |
| 700 | 1 | a Feofanova, Elena V.4 aut |
| 700 | 1 | a Lahrouchi, Najim4 aut |
| 700 | 1 | a Ntalla, Ioanna4 aut |
| 700 | 1 | a Karthikeyan, Savita4 aut |
| 700 | 1 | a Cook, James4 aut |
| 700 | 1 | a Chen, Lingyan4 aut |
| 700 | 1 | a Mifsud, Borbala4 aut |
| 700 | 1 | a Yao, Chen4 aut |
| 700 | 1 | a Tuomi, Tiinamaijau Lund University,Lunds universitet,Diabetiska komplikationer,Forskargrupper vid Lunds universitet,Diabetic Complications,Lund University Research Groups,University of Helsinki4 aut0 (Swepub:lu)ti8736tu |
| 700 | 1 | a Cartwright, James H.4 aut |
| 700 | 1 | a Hellwege, Jacklyn N.4 aut |
| 700 | 1 | a Giri, Ayush4 aut |
| 700 | 1 | a Tragante, Vinicius4 aut |
| 700 | 1 | a Thorleifsson, Gudmar4 aut |
| 700 | 1 | a Liu, Dajiang J.4 aut |
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| 700 | 1 | a Ferreira, Teresa4 aut |
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| 700 | 1 | a Rauramaa, Rainer4 aut |
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| 700 | 1 | a Hallmans, Göran,d 1947-u Umeå universitet,Näringsforskning4 aut0 (Swepub:umu)goha0001 |
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| 710 | 2 | a University of Cambridgeb Diabetiska komplikationer4 org |
| 710 | 2 | a et al. |
| 773 | 0 | t Nature Geneticsd : Nature Publishing Groupg 52:12, s. 1314-1332q 52:12<1314-1332x 1061-4036x 1546-1718 |
| 856 | 4 | u https://pure.rug.nl/ws/files/174218286/s41588_020_00713_x.pdf |
| 856 | 4 | u http://dx.doi.org/10.1038/s41588-020-00713-xy FULLTEXT |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-178121 |
| 856 | 4 8 | u https://doi.org/10.1038/s41588-020-00713-x |
| 856 | 4 8 | u https://lup.lub.lu.se/record/ab3cf679-db71-435f-9907-67f295345e04 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-431051 |
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