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对无症状抗核抗体生产的遗传分析

Mehmet Hocaoglu, Desiré Casares-Marfil, Amr H Sawalha

medRxiv : the preprint server for health sciences

|September 16, 2024

概括

遗传因素对无症状抗核抗体 (ANA) 阳性没有显著影响. 环境因素可能在ANA发展中发挥更大的作用,无症状ANA阳性个体中没有发现狼的遗传风险增加.

科学领域:

免疫学免疫学免疫学
遗传学遗传学是一个
人口健康人口健康

背景情况:

抗核抗体 (ANA) 在一般人群中很常见,大多数人仍然无症状.
关于无症状ANA阳性的遗传基础的研究有限.

研究的目的:

进行多祖先全基因组关联研究 (GWAS),以调查对无症状ANA阳性的遗传贡献.
估计无症状ANA阳性的遗传性,并评估其与狼遗传风险的关联.

主要方法:

来自我们所有人研究计划的无症状ANA阳性和阴性个体的GWAS数据的多祖先元分析.
对单核酸多态 (SNP) 的归算和对大约600万个SNP的分析.
基于SNP的遗传性的估计和狼遗传风险评分的构建.

主要成果:

对于无症状的ANA阳性,没有发现全基因组显著的位置.
在HLA-DQB1 (rs17211748) 的上游变体中发现了一个暗示性关联.
遗传率估计为24.9%,在ANA阳性个体中没有观察到狼的遗传风险增加.

结论:

无症状的ANA阳性与显著的遗传风险没有强烈的关联.
非遗传因素,可能是环境因素,是ANA生产的主要决定因素.

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相关概念视频

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...