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Genomic prediction of celiac disease targeting HLA-positive individuals

机译:针对HLA阳性个体的乳糜泻的基因组预测

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Background Genomic prediction aims to leverage genome-wide genetic data towards better disease diagnostics and risk scores. We have previously published a genomic risk score (GRS) for celiac disease (CD), a common and highly heritable autoimmune disease, which differentiates between CD cases and population-based controls at a clinically-relevant predictive level, improving upon other gene-based approaches. HLA risk haplotypes, particularly HLA-DQ2.5, are necessary but not sufficient for CD, with at least one HLA risk haplotype present in up to half of most Caucasian populations. Here, we assess a genomic prediction strategy that specifically targets this common genetic susceptibility subtype, utilizing a supervised learning procedure for CD that leverages known HLA-DQ2.5 risk.
机译:背景技术基因组预测旨在利用全基因组遗传数据来更好地进行疾病诊断和风险评分。我们之前已经发表了乳糜泻(CD)的基因组风险评分(GRS),这是一种常见且高度可遗传的自身免疫性疾病,可在临床相关的预测水平上区分CD病例和基于人群的对照,并改善了其他基于基因的疾病方法。 HLA危险单倍型,特别是HLA-DQ2.5,对于CD是必要的,但还不足以解决问题,大多数高加索人口中至少有一半存在HLA危险单倍型。在这里,我们利用针对CD的监督学习程序,利用已知的HLA-DQ2.5风险,评估了专门针对这种常见遗传易感性亚型的基因组预测策略。

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