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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
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| 001 | oai:prod.swepub.kib.ki.se:138464868 | |
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| 008 | 240701s2018 | |||||||||||000 ||eng| | |
| 009 | oai:DiVA.org:uu-368171 | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1384648682 URI |
| 024 | 7 | a https://doi.org/10.1038/s41467-018-04109-82 DOI |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3681712 URI |
| 040 | a (SwePub)kid (SwePub)uu | |
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| 100 | 1 | a Dadaev, T4 aut |
| 245 | 1 0 | a Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants |
| 264 | c 2018-06-11 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2018 |
| 520 | a Prostate cancer is a polygenic disease with a large heritable component. A number of common, low-penetrance prostate cancer risk loci have been identified through GWAS. Here we apply the Bayesian multivariate variable selection algorithm JAM to fine-map 84 prostate cancer susceptibility loci, using summary data from a large European ancestry meta-analysis. We observe evidence for multiple independent signals at 12 regions and 99 risk signals overall. Only 15 original GWAS tag SNPs remain among the catalogue of candidate variants identified; the remainder are replaced by more likely candidates. Biological annotation of our credible set of variants indicates significant enrichment within promoter and enhancer elements, and transcription factor-binding sites, including AR, ERG and FOXA1. In 40 regions at least one variant is colocalised with an eQTL in prostate cancer tissue. The refined set of candidate variants substantially increase the proportion of familial relative risk explained by these known susceptibility regions, which highlights the importance of fine-mapping studies and has implications for clinical risk profiling. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Urologi och njurmedicin0 (SwePub)302142 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Urology and Nephrology0 (SwePub)302142 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 |
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| 710 | 2 | a Karolinska Institutetb Ortopedi4 org |
| 773 | 0 | t Nature communicationsd : Springer Science and Business Media LLCg 9:1, s. 2256-q 9:1<2256-x 2041-1723 |
| 856 | 4 | u https://www.nature.com/articles/s41467-018-04109-8.pdf |
| 856 | 4 | u https://doi.org/10.1038/s41467-018-04109-8y Fulltext |
| 856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:1267921/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:138464868 |
| 856 | 4 8 | u https://doi.org/10.1038/s41467-018-04109-8 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-368171 |
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