Rare-variant collapsing analyses of asthma in the UK biobank
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| Název: | Rare-variant collapsing analyses of asthma in the UK biobank |
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| Autoři: | Zöller, Bengt, Manderstedt, Eric, Lind-Halldén, Christina, Halldén, Christer |
| Přispěvatelé: | Kristianstad University, Faculty of Natural Science, Högskolan Kristianstad, Fakulteten för naturvetenskap, Originator, Kristianstad University, Faculty of Natural Science, Department of Bioanalysis, Högskolan Kristianstad, Fakulteten för naturvetenskap, Avdelningen för bioanalys, Originator, Kristianstad University, Faculty of Natural Science, Biomedicin, Högskolan Kristianstad, Fakulteten för naturvetenskap, Biomedicin, Originator |
| Zdroj: | Respiratory Investigation. 63(5):723-725 |
| Témata: | Medical and Health Sciences (3), Basic Medicine (301), Medical Genetics and Genomics (30107), Medicin och hälsovetenskap (3), Medicinska och farmaceutiska grundvetenskaper (301), Medicinsk genetik och genomik (30107) |
| Popis: | Asthma is a common health problem. Both common and rare genetic risk factors may contribute to asthma, but few large-scale whole-exome sequencing studies elucidating the contribution of rare variations to asthma have been published. Two published UK Biobank portals: the Genebass portal (N = 269,171) and the Astra Zeneca portal (N = 484,111) (https://azphewas.com/and https://app.genebass.org/) were used to access gene collapsing analysis of rare variations for asthma. A conservative threshold (p ≤ 2 × 10−9) was used to decrease the risk of spurious associations. Rare variations in two genes were significantly linked to asthma (Il33, FLG). Both genes have previously been linked to asthma in genome-wide association studies. The strongest non-significant gene was CSF2RA with a p-value of 6.09e-8. In conclusion, no novel significant asthma loci were identified using gene collapsing analyses. Future rare variant analysis studies of asthma need to refine phenotypic classification and incorporating diverse populations. |
| Popis souboru: | electronic |
| Přístupová URL adresa: | https://researchportal.hkr.se/ws/files/92147731/1-s2.0-S2212534525000802-main.pdf |
| Databáze: | SwePub |
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Nájsť tento článok vo Web of Science | Abstrakt: | Asthma is a common health problem. Both common and rare genetic risk factors may contribute to asthma, but few large-scale whole-exome sequencing studies elucidating the contribution of rare variations to asthma have been published. Two published UK Biobank portals: the Genebass portal (N = 269,171) and the Astra Zeneca portal (N = 484,111) (https://azphewas.com/and https://app.genebass.org/) were used to access gene collapsing analysis of rare variations for asthma. A conservative threshold (p ≤ 2 × 10−9) was used to decrease the risk of spurious associations. Rare variations in two genes were significantly linked to asthma (Il33, FLG). Both genes have previously been linked to asthma in genome-wide association studies. The strongest non-significant gene was CSF2RA with a p-value of 6.09e-8. In conclusion, no novel significant asthma loci were identified using gene collapsing analyses. Future rare variant analysis studies of asthma need to refine phenotypic classification and incorporating diverse populations. |
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| ISSN: | 22125345 22125353 |
| DOI: | 10.1016/j.resinv.2025.05.016 |