不同基因祖先群体的拷贝数变异频率不同。

IF 3.3 Q2 GENETICS & HEREDITY

HGG Advances Pub Date : 2024-10-10 Epub Date: 2024-08-12 DOI:10.1016/j.xhgg.2024.100340

Laura M Schultz, Alexys Knighton, Guillaume Huguet, Zohra Saci, Martineau Jean-Louis, Josephine Mollon, Emma E M Knowles, David C Glahn, Sébastien Jacquemont, Laura Almasy

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引用次数: 0

摘要

拷贝数变异（CNV）与多种神经精神和认知表型有关。我们发现，在英国生物库（UKBB）和美国复制队列（SPARK）中，有害 CNV 在非欧洲血统群体中的发生率低于欧洲血统群体。我们还发现了特定的复发性 CNV，这些 CNV 在英国生物库和 SPARK 的不同祖先群体中的频率一直存在差异。这些与祖先有关的 CNV 发生率差异同时存在于未经选择的社区人群和富含自闭症谱系障碍 (ASD) 患者的家族队列中，这有力地表明，在探究 CNV 与健康结果之间的关联时应考虑遗传祖先的因素。

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Copy-number variants differ in frequency across genetic ancestry groups.

Copy-number variants (CNVs) have been implicated in a variety of neuropsychiatric and cognitive phenotypes. We found that deleterious CNVs are less prevalent in non-European ancestry groups than they are in European ancestry groups of both the UK Biobank (UKBB) and a US replication cohort (SPARK). We also identified specific recurrent CNVs that consistently differ in frequency across ancestry groups in both the UKBB and SPARK. These ancestry-related differences in CNV prevalence present in both an unselected community population and a family cohort enriched with individuals diagnosed with autism spectrum disorder (ASD) strongly suggest that genetic ancestry should be considered when probing associations between CNVs and health outcomes.

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来源期刊

HGG Advances Biochemistry, Genetics and Molecular Biology-Molecular Medicine

CiteScore

4.30

自引率

4.50%

发文量

审稿时长

14 weeks