Suppr超能文献

评估遗传因素对屈光不正的影响。

Assessing the contribution of genetic nurture to refractive error.

机构信息

School of Optometry & Vision Sciences, Cardiff University, Cardiff, CF24 4HQ, UK.

Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.

出版信息

Eur J Hum Genet. 2022 Nov;30(11):1226-1232. doi: 10.1038/s41431-022-01126-6. Epub 2022 May 27.

Abstract

Parents pass on both their genes and environment to offspring, prompting debate about the relative importance of nature versus nurture in the inheritance of complex traits. Advances in molecular genetics now make it possible to quantify an individual's genetic predisposition to a trait via his or her 'polygenic score'. However, part of the risk captured by an individual's polygenic score may actually be attributed to the genotype of their parents. In the most well-studied example of this indirect 'genetic nurture' effect, about half the genetic contribution to educational attainment was found to be attributed to parental alleles, even if those alleles were not inherited by the child. Refractive errors, such as myopia, are a common cause of visual impairment and pose high economic and quality-of-life costs. Despite strong evidence that refractive errors are highly heritable, the extent to which genetic risk is conferred directly via transmitted risk alleles or indirectly via the environment that parents create for their children is entirely unknown. Here, an instrumental variable analysis in 1944 pairs of adult siblings from the United Kingdom was used to quantify the proportion of the genetic risk ('single nucleotide polymorphism (SNP) heritability') of refractive error contributed by genetic nurture. We found no evidence of a contribution from genetic nurture: non-within-family SNP-heritability estimate = 0.213 (95% confidence interval 0.134-0.310) and within-family SNP-heritability estimate = 0.250 (0.152-0.372). Our findings imply the genetic contribution to refractive error is principally an intrinsic effect from alleles transmitted from parents to offspring.

摘要

父母将自己的基因和环境传递给后代,这促使人们就遗传复杂特征时,基因与环境哪个更重要展开了争论。分子遗传学的进步现在使得通过个体的“多基因分数”来量化其对特征的遗传易感性成为可能。然而,个体多基因分数所捕捉到的部分风险实际上可能归因于其父母的基因型。在这种间接的“遗传教养”效应中研究最充分的例子中,发现教育程度的一半遗传贡献归因于父母的等位基因,即使这些等位基因没有被孩子继承。近视等屈光不正(refractive errors)是视力损害的常见原因,并造成高昂的经济和生活质量成本。尽管有强有力的证据表明屈光不正具有高度遗传性,但遗传风险是通过传递的风险等位基因直接赋予,还是通过父母为子女创造的环境间接赋予,这一点完全未知。在这里,对来自英国的 1944 对成年兄弟姐妹进行了工具变量分析,以量化由遗传教养引起的屈光不正遗传风险(“单核苷酸多态性(SNP)遗传力”)的比例。我们没有发现遗传教养有任何贡献:非家庭内 SNP 遗传力估计值=0.213(95%置信区间 0.134-0.310),家庭内 SNP 遗传力估计值=0.250(0.152-0.372)。我们的研究结果表明,屈光不正的遗传贡献主要是父母传给后代的等位基因的内在效应。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/83a2/9626539/8397062455d8/41431_2022_1126_Fig2_HTML.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验