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|---|---|---|
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| 008 | 240701s2022 | |||||||||||000 ||eng| | |
| 009 | oai:DiVA.org:su-204358 | |
| 009 | oai:DiVA.org:uu-473589 | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1492256422 URI |
| 024 | 7 | a https://doi.org/10.1038/s41588-022-01024-z2 DOI |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-2043582 URI |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4735892 URI |
| 040 | a (SwePub)kid (SwePub)sud (SwePub)uu | |
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| 100 | 1 | a Bellenguez, Cu Univ Lille, Facteurs Risque & Terminants Mol Malad Liees Viei, Inst Pasteur Lille, INSERM,U1167 RID AGE,CHU Lille, Lille, France4 aut |
| 245 | 1 0 | a New insights into the genetic etiology of Alzheimer's disease and related dementias |
| 264 | c 2022-04-04 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2022 |
| 500 | a For complete list of authors see http://dx.doi.org/10.1038/s41588-022-01024-z | |
| 520 | a Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele. | |
| 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 Neurologi0 (SwePub)302072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng |
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| 700 | 1 | a Yaqub, A4 aut |
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| 700 | 1 | a Lambert, JCu Univ Lille, Facteurs Risque & Terminants Mol Malad Liees Viei, Inst Pasteur Lille, INSERM,U1167 RID AGE,CHU Lille, Lille, France4 aut |
| 710 | 2 | a Karolinska Institutetb Univ Lille, Facteurs Risque & Terminants Mol Malad Liees Viei, Inst Pasteur Lille, INSERM,U1167 RID AGE,CHU Lille, Lille, France4 org |
| 773 | 0 | t Nature geneticsd : Springer Science and Business Media LLCg 54:4, s. 412-436q 54:4<412-436x 1546-1718x 1061-4036 |
| 856 | 4 | u https://doi.org/10.1038/s41588-022-01024-zy Fulltext |
| 856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:1654883/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:149225642 |
| 856 | 4 8 | u https://doi.org/10.1038/s41588-022-01024-z |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-204358 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-473589 |
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