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绘制新生儿 C3 和 C4 蛋白浓度的遗传和表型图谱。

Mapping the genetic and phenotypic landscape of neonatal C3 and C4 protein concentrations.

机构信息

Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.

出版信息

Cell Genom. 2023 Dec 13;3(12):100456. doi: 10.1016/j.xgen.2023.100456.

DOI:10.1016/j.xgen.2023.100456
PMID:38116124
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10726484/
Abstract

The complement system is crucial for innate immunity and has been linked to autoimmune and psychiatric disorders. Borbye-Lorenzen et al. perform GWASs and PheWASs of neonatal C3/C4 protein concentrations, finding multiple genome-wide significant loci, and identify sex-specific associations between C3 protein concentration and C4 copy number with risk for schizophrenia.

摘要

补体系统对于先天免疫至关重要,并且与自身免疫和精神疾病有关。Borbye-Lorenzen 等人对新生儿 C3/C4 蛋白浓度进行了 GWAS 和 PheWAS 分析,发现了多个全基因组显著位点,并确定了 C3 蛋白浓度与 C4 拷贝数之间与精神分裂症风险的性别特异性关联。

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本文引用的文献

1
The correlates of neonatal complement component 3 and 4 protein concentrations with a focus on psychiatric and autoimmune disorders.新生儿补体成分 3 和 4 蛋白浓度的相关因素及其与精神和自身免疫性疾病的关系。
Cell Genom. 2023 Dec 13;3(12):100457. doi: 10.1016/j.xgen.2023.100457.
2
Multi-ancestry phenome-wide association of complement component 4 variation with psychiatric and brain phenotypes in youth.多民族人群补体成分 4 变异与青少年精神和脑表型的全表型关联研究。
Genome Biol. 2023 Mar 7;24(1):42. doi: 10.1186/s13059-023-02878-0.
3
Association between complement component 4A expression, cognitive performance and brain imaging measures in UK Biobank.英国生物银行中补体成分4A表达、认知表现与脑成像测量之间的关联
Psychol Med. 2021 Mar 3;52(15):1-11. doi: 10.1017/S0033291721000179.
4
Complement genes contribute sex-biased vulnerability in diverse disorders.补体基因导致多种疾病的性别偏向易损性。
Nature. 2020 Jun;582(7813):577-581. doi: 10.1038/s41586-020-2277-x. Epub 2020 May 11.
5
Clinical use of current polygenic risk scores may exacerbate health disparities.现行多基因风险评分的临床应用可能会加剧健康差异。
Nat Genet. 2019 Apr;51(4):584-591. doi: 10.1038/s41588-019-0379-x. Epub 2019 Mar 29.
6
Schizophrenia risk from complex variation of complement component 4.补体成分4的复杂变异导致精神分裂症的风险。
Nature. 2016 Feb 11;530(7589):177-83. doi: 10.1038/nature16549. Epub 2016 Jan 27.
7
Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.在中国健康受试者中进行血清补体 C3 和 C4 水平的全基因组关联研究。
PLoS Genet. 2012 Sep;8(9):e1002916. doi: 10.1371/journal.pgen.1002916. Epub 2012 Sep 13.
8
The classical complement cascade mediates CNS synapse elimination.经典补体级联反应介导中枢神经系统突触消除。
Cell. 2007 Dec 14;131(6):1164-78. doi: 10.1016/j.cell.2007.10.036.