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通过基因型进行形式化召回,作为一种有效的详细表型分析和因果推断方法。

Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.

机构信息

MRC Integrative Epidemiology Unit at University of Bristol, Bristol, BS8 2BN, UK.

Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, BS8 2BN, UK.

出版信息

Nat Commun. 2018 Feb 19;9(1):711. doi: 10.1038/s41467-018-03109-y.


DOI:10.1038/s41467-018-03109-y
PMID:29459775
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5818506/
Abstract

Detailed phenotyping is required to deepen our understanding of the biological mechanisms behind genetic associations. In addition, the impact of potentially modifiable risk factors on disease requires analytical frameworks that allow causal inference. Here, we discuss the characteristics of Recall-by-Genotype (RbG) as a study design aimed at addressing both these needs. We describe two broad scenarios for the application of RbG: studies using single variants and those using multiple variants. We consider the efficacy and practicality of the RbG approach, provide a catalogue of UK-based resources for such studies and present an online RbG study planner.

摘要

详细的表型分析对于深入了解遗传关联背后的生物学机制至关重要。此外,潜在可调节风险因素对疾病的影响需要能够进行因果推断的分析框架。在这里,我们讨论了基于基因型召回(RbG)的研究设计的特点,该设计旨在满足这两方面的需求。我们描述了 RbG 在两种广泛应用场景下的应用:使用单一变异和使用多个变异的研究。我们考虑了 RbG 方法的有效性和实用性,提供了一个英国此类研究资源的目录,并展示了一个在线 RbG 研究规划器。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39ca/5818506/afba81097453/41467_2018_3109_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39ca/5818506/f1662d2aec87/41467_2018_3109_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39ca/5818506/644568ba3ea6/41467_2018_3109_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39ca/5818506/6ceb5f208eff/41467_2018_3109_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39ca/5818506/afba81097453/41467_2018_3109_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39ca/5818506/f1662d2aec87/41467_2018_3109_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39ca/5818506/644568ba3ea6/41467_2018_3109_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39ca/5818506/6ceb5f208eff/41467_2018_3109_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39ca/5818506/afba81097453/41467_2018_3109_Fig4_HTML.jpg

相似文献

[1]
Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.

Nat Commun. 2018-2-19

[2]
Assessing the causal role of body mass index on cardiovascular health in young adults: Mendelian randomization and recall-by-genotype analyses.

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[3]
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[4]
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[5]
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[7]
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[8]
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[2]
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[3]
How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study.

J Community Genet. 2024-12

[4]
Blood metabolites mediate effects of breakfast skipping on heart failure via Mendelian randomization analysis.

Sci Rep. 2024-8-15

[5]
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Genome Med. 2024-5-30

[6]
The association between body mass index and metabolite response to a liquid mixed meal challenge: a Mendelian randomization study.

Am J Clin Nutr. 2024-5

[7]
Harnessing the power of proteomics in precision diabetes medicine.

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[8]
Proof-of-concept recall-by-genotype study of extremely low and high Alzheimer's polygenic risk reveals autobiographical deficits and cingulate cortex correlates.

Alzheimers Res Ther. 2023-12-12

[9]
A FinnGen pilot clinical recall study for Alzheimer's disease.

Sci Rep. 2023-8-3

[10]
PNPLA3 rs738409 risk genotype decouples TyG index from HOMA2-IR and intrahepatic lipid content.

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本文引用的文献

[1]
Assessing the causal role of body mass index on cardiovascular health in young adults: Mendelian randomization and recall-by-genotype analyses.

Circulation. 2018-7-30

[2]
The ethics conundrum in Recall by Genotype (RbG) research: Perspectives from birth cohort participants.

PLoS One. 2018-8-16

[3]
Calls grow to tap the gold mine of human genetic knockouts.

Nat Rev Drug Discov. 2017-7-31

[4]
Network Mendelian Randomization Study Design to Assess Factors Mediating the Causal Link Between Telomere Length and Heart Disease.

Circ Res. 2017-7-21

[5]
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Nature. 2017-4-12

[6]
Statistical power considerations in genotype-based recall randomized controlled trials.

Sci Rep. 2016-11-25

[7]
Regulatory T Cell Responses in Participants with Type 1 Diabetes after a Single Dose of Interleukin-2: A Non-Randomised, Open Label, Adaptive Dose-Finding Trial.

PLoS Med. 2016-10-11

[8]
Divergent effects of central melanocortin signalling on fat and sucrose preference in humans.

Nat Commun. 2016-10-4

[9]
Analysis of protein-coding genetic variation in 60,706 humans.

Nature. 2016-8-18

[10]
Insight into rheumatological cause and effect through the use of Mendelian randomization.

Nat Rev Rheumatol. 2016-7-14

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