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本文引用的文献

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Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.母胎遗传效应对出生体重的影响及其与心血管代谢危险因素的相关性。
Nat Genet. 2019 May;51(5):804-814. doi: 10.1038/s41588-019-0403-1. Epub 2019 May 1.
2
Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes.房颤遗传风险可区分心源性栓塞性卒中与其他卒中亚型。
Neurol Genet. 2018 Dec 3;4(6):e293. doi: 10.1212/NXG.0000000000000293. eCollection 2018 Dec.
3
Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation.肌联蛋白功能丧失变异与早发性心房颤动的关联。
JAMA. 2018 Dec 11;320(22):2354-2364. doi: 10.1001/jama.2018.18179.
4
Coding variants in and increase risk of atrial fibrillation.[基因名称]中的编码变异和[基因名称]会增加心房颤动的风险。 (注:原文中两个“and”之前缺少具体基因信息,这里只是补充说明以便完整表意)
Commun Biol. 2018 Jun 12;1:68. doi: 10.1038/s42003-018-0068-9. eCollection 2018.
5
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.生物银行驱动的基因组发现为心房颤动生物学提供了新的见解。
Nat Genet. 2018 Sep;50(9):1234-1239. doi: 10.1038/s41588-018-0171-3. Epub 2018 Jul 30.
6
Reading Mendelian randomisation studies: a guide, glossary, and checklist for clinicians.阅读孟德尔随机化研究:临床医生指南、词汇表和清单。
BMJ. 2018 Jul 12;362:k601. doi: 10.1136/bmj.k601.
7
Multi-ethnic genome-wide association study for atrial fibrillation.多民族全基因组关联研究心房颤动。
Nat Genet. 2018 Jun 11;50(9):1225-1233. doi: 10.1038/s41588-018-0133-9.
8
Birthweight, Type 2 Diabetes Mellitus, and Cardiovascular Disease: Addressing the Barker Hypothesis With Mendelian Randomization.出生体重、2 型糖尿病和心血管疾病:孟德尔随机化方法解决巴克假说。
Circ Genom Precis Med. 2018 Jun;11(6):e002054. doi: 10.1161/CIRCGEN.117.002054.
9
Evaluating the potential role of pleiotropy in Mendelian randomization studies.评估多效性在孟德尔随机化研究中的潜在作用。
Hum Mol Genet. 2018 Aug 1;27(R2):R195-R208. doi: 10.1093/hmg/ddy163.
10
Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases.检测复杂性状和疾病之间的孟德尔随机化因果关系推断中广泛存在的水平 pleiotropy。
Nat Genet. 2018 May;50(5):693-698. doi: 10.1038/s41588-018-0099-7. Epub 2018 Apr 23.

遗传决定的出生体重与心房颤动相关:一项孟德尔随机化研究。

Genetically Determined Birthweight Associates With Atrial Fibrillation: A Mendelian Randomization Study.

机构信息

From the Departments of Genetics (R.L.K., D.L.C., S.F.A.G., D.J.R., B.F.V.), University of Pennsylvania.

Corporal Michael J. Crescenz VA Medical Center (R.L.K., M.G.L., S.M.D.).

出版信息

Circ Genom Precis Med. 2020 Jun;13(3):e002553. doi: 10.1161/CIRCGEN.119.002553. Epub 2020 Apr 27.

DOI:10.1161/CIRCGEN.119.002553
PMID:32340472
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7299774/
Abstract

BACKGROUND

Atrial fibrillation is a common cardiovascular disorder, characterized by irregular electrical activity in the upper chambers of the heart. Both chronic cardiometabolic risk factors and genetics have been shown to contribute to the development of atrial fibrillation. Birthweight has also been associated with risk of atrial fibrillation.

METHODS

In the current study, we utilized a genetic approach to study the effect of birthweight on atrial fibrillation. We used 2-sample Mendelian randomization to consider the impact of birthweight on incident atrial fibrillation using summary data from the Early Growth Genetics Consortium GWAS of birthweight and a large biobank-based GWAS of atrial fibrillation.

RESULTS

Using the framework of 2-sample Mendelian randomization, we found that a 1-SD genetic elevation of birthweight was associated with increased risk of atrial fibrillation (odds ratio, 1.27 [95% CI, 1.14-1.41]; =1×10) with sensitivity analyses demonstrating robustness of this result.

CONCLUSIONS

Our findings clarify the directionality of the relationship between birthweight and atrial fibrillation, supporting the growing body of evidence that intrauterine growth has a lifelong impact on cardiovascular health.

摘要

背景

心房颤动是一种常见的心血管疾病,其特征是心脏上部腔室的不规则电活动。慢性心脏代谢危险因素和遗传因素都被证明与心房颤动的发生有关。出生体重也与心房颤动的风险有关。

方法

在本研究中,我们利用遗传方法研究了出生体重对心房颤动的影响。我们使用两样本 Mendelian 随机化,利用早期生长遗传学联盟 GWAS 汇总数据中关于出生体重的信息,以及一个基于大型生物库的心房颤动 GWAS,来考虑出生体重对新发心房颤动的影响。

结果

使用两样本 Mendelian 随机化的框架,我们发现,出生体重每增加 1 个标准差,患心房颤动的风险就会增加(优势比,1.27[95%置信区间,1.14-1.41];=1×10),敏感性分析表明这一结果具有稳健性。

结论

我们的发现阐明了出生体重与心房颤动之间关系的方向性,支持了越来越多的证据表明宫内生长对心血管健康具有终生影响。