双胞胎研究提供2321血浆蛋白的遗传力估计和评估缺失的SNP遗传力。

IF 3.8 2区 生物学 Q1 BIOCHEMICAL RESEARCH METHODS
Gabin Drouard, Fiona A Hagenbeek, Miina Ollikainen, Zhili Zheng, Xiaoling Wang, Samuli Ripatti, Matti Pirinen, Jaakko Kaprio
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引用次数: 0

摘要

评估血浆蛋白的变异在多大程度上是由遗传或环境因素造成的,对于推进个性化医疗至关重要。虽然大规模研究已经建立了基于snp的血浆蛋白遗传力(SNP-h2)估计,但对蛋白质变异性的总遗传效应的比例知之甚少。我们应用定量遗传双胞胎模型估计了2321种血浆蛋白的遗传力,并评估了SNP-h2估计值占遗传力的比例。研究人员对401对年龄在56-70岁之间的双胞胎进行了蛋白质组学分析,其中包括196对完全同性的双胞胎。平均而言,40%的蛋白质变异可归因于遗传效应。基于双胞胎的遗传力估计值与英国生物银行公布的SNP-h2估计值高度相关(Spearman系数:ρ = 0.80)。然而,平均而言,SNP-h2只覆盖了总遗传力的一半,而另一半(代表总蛋白质表型变异的五分之一)仍然缺失。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Twin Study Provides Heritability Estimates for 2321 Plasma Proteins and Assesses Missing SNP Heritability.

Assessing how much variability in blood plasma proteins is due to genetic or environmental factors is essential for advancing personalized medicine. While large-scale studies have established SNP-based heritability (SNP-h2) estimates for plasma proteins, less is known about the proportion of total genetic effects on protein variability. We applied quantitative genetic twin models to estimate the heritability of 2321 plasma proteins and to assess the proportion of heritability accounted for by SNP-h2 estimates. Olink proteomics data were generated for 401 twins aged 56-70, including 196 complete same-sex twin pairs. On average, 40% of protein variability was attributable to genetic effects. Twin-based heritability estimates were highly correlated with published SNP-h2 estimates from the UK Biobank (Spearman coefficient: ρ = 0.80). However, on average, only half of the total heritability was covered by SNP-h2, and the other half, representing one-fifth of the total protein phenotypic variability, remains missing.

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来源期刊
Journal of Proteome Research
Journal of Proteome Research 生物-生化研究方法
CiteScore
9.00
自引率
4.50%
发文量
251
审稿时长
3 months
期刊介绍: Journal of Proteome Research publishes content encompassing all aspects of global protein analysis and function, including the dynamic aspects of genomics, spatio-temporal proteomics, metabonomics and metabolomics, clinical and agricultural proteomics, as well as advances in methodology including bioinformatics. The theme and emphasis is on a multidisciplinary approach to the life sciences through the synergy between the different types of "omics".
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