通过 "山寨 "产生的局部遗传相关性减少了跨性状同配所造成的混杂。

IF 8.1 1区 生物学 Q1 GENETICS & HEREDITY American journal of human genetics Pub Date : 2024-11-07 DOI:10.1016/j.ajhg.2024.10.012
Shiyang Ma, Fan Wang, Richard Border, Joseph Buxbaum, Noah Zaitlen, Iuliana Ionita-Laza
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引用次数: 0

摘要

局部遗传相关性分析是确定具有跨性状共同生物学特性的遗传位点的重要工具。最近,Border 等人的研究表明,这些分析的结果会受到跨性状同配(xAM)的干扰,从而导致许多假阳性结果。在这里,我们介绍一种局部遗传相关方法 LAVA-Knock,它以现有的遗传相关方法 LAVA 为基础,并通过生成合成数据的方式对其进行增强,从而保留局部和长程连锁不平衡(LD),使我们能够减少 xAM 引起的混杂。我们在基于现实 xAM 模型的模拟和针对 630 个性状对的全基因组关联研究(GWAS)应用中表明,相对于 LAVA,LAVA-Knock 能大大减少 xAM 带来的偏差。此外,我们还发现,局部遗传相关性的降低与文献中对跨配偶表型相关性的估计之间存在显著的正相关;特别是,与其他性状对相比,已知具有较高跨配偶表型相关性值的性状对的局部遗传相关性数量的降低幅度明显更高。一些有代表性的例子包括教育与智力、教育与饮酒、注意力缺陷多动障碍与抑郁。这些结果表明,LAVA-Knock 可以减少由 xAM 引起的短程 LD 和长程 LD 所造成的混杂。
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Local genetic correlation via knockoffs reduces confounding due to cross-trait assortative mating.

Local genetic correlation analysis is an important tool for identifying genetic loci with shared biology across traits. Recently, Border et al. have shown that the results of these analyses are confounded by cross-trait assortative mating (xAM), leading to many false-positive findings. Here, we describe LAVA-Knock, a local genetic correlation method that builds off an existing genetic correlation method, LAVA, and augments it by generating synthetic data in a way that preserves local and long-range linkage disequilibrium (LD), allowing us to reduce the confounding induced by xAM. We show in simulations based on a realistic xAM model and in genome-wide association study (GWAS) applications for 630 trait pairs that LAVA-Knock can greatly reduce the bias due to xAM relative to LAVA. Furthermore, we show a significant positive correlation between the reduction in local genetic correlations and estimates in the literature of cross-mate phenotype correlations; in particular, pairs of traits that are known to have high cross-mate phenotype correlation values have a significantly higher reduction in the number of local genetic correlations compared with other trait pairs. A few representative examples include education and intelligence, education and alcohol consumption, and attention-deficit hyperactivity disorder and depression. These results suggest that LAVA-Knock can reduce confounding due to both short-range LD and long-range LD induced by xAM.

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来源期刊
CiteScore
14.70
自引率
4.10%
发文量
185
审稿时长
1 months
期刊介绍: The American Journal of Human Genetics (AJHG) is a monthly journal published by Cell Press, chosen by The American Society of Human Genetics (ASHG) as its premier publication starting from January 2008. AJHG represents Cell Press's first society-owned journal, and both ASHG and Cell Press anticipate significant synergies between AJHG content and that of other Cell Press titles.
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