دورية أكاديمية
Large-scale whole-exome sequencing of neuropsychiatric diseases and traits in 350,770 adults.
| العنوان: | Large-scale whole-exome sequencing of neuropsychiatric diseases and traits in 350,770 adults. |
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| المؤلفون: | Deng, Yue-Ting, Wu, Bang-Sheng, Yang, Liu, He, Xiao-Yu, Kang, Ju-Jiao, Liu, Wei-Shi, Li, Ze-Yu, Wu, Xin-Rui, Zhang, Ya-Ru, Chen, Shi-Dong, Ge, Yi-Jun, Huang, Yu-Yuan, Feng, Jian-Feng, Zhu, Ying, Dong, Qiang, Mao, Ying, Cheng, Wei, Yu, Jin-Tai |
| المصدر: | Nat Hum Behav ; ISSN:2397-3374 ; Volume:8 ; Issue:6 |
| بيانات النشر: | Nature Publishing Group |
| سنة النشر: | 2024 |
| المجموعة: | PubMed Central (PMC) |
| الوصف: | While numerous genomic loci have been identified for neuropsychiatric conditions, the contribution of protein-coding variants has yet to be determined. Here we conducted a large-scale whole-exome-sequencing study to interrogate the impact of protein-coding variants on 46 neuropsychiatric diseases and 23 traits in 350,770 adults from the UK Biobank. Twenty new genes were associated with neuropsychiatric diseases through coding variants, among which 16 genes had impacts on the longitudinal risks of diseases. Thirty new genes were associated with neuropsychiatric traits, with SYNGAP1 showing pleiotropic effects across cognitive function domains. Pairwise estimation of genetic correlations at the coding-variant level highlighted shared genetic associations among pairs of neurodegenerative diseases and mental disorders. Lastly, a comprehensive multi-omics analysis suggested that alterations in brain structures, blood proteins and inflammation potentially contribute to the gene-phenotype linkages. Overall, our findings characterized a compendium of protein-coding variants for future research on the biology and therapeutics of neuropsychiatric phenotypes. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | https://doi.org/10.1038/s41562-024-01861-4Test; https://pubmed.ncbi.nlm.nih.gov/38589703Test |
| DOI: | 10.1038/s41562-024-01861-4 |
| الإتاحة: | https://doi.org/10.1038/s41562-024-01861-4Test https://pubmed.ncbi.nlm.nih.gov/38589703Test |
| حقوق: | © 2024. The Author(s), under exclusive licence to Springer Nature Limited. |
| رقم الانضمام: | edsbas.7D82F647 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/s41562-024-01861-4 |
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