Tohoku Medical Megabank Organization, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8573, Japan.
Advanced Research Center for Innovations in Next-Generation Medicine, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8573, Japan.
J Biochem. 2021 Oct 12;170(3):399-410. doi: 10.1093/jb/mvab060.
Ethnic-specific SNP arrays are becoming more important to increase the power of genome-wide association studies in diverse population. In the Tohoku Medical Megabank Project, we have been developing a series of Japonica Arrays (JPA) for genotyping participants based on reference panels constructed from whole-genome sequence data of the Japanese population. Here, we designed a novel version of the SNP array for the Japanese population, called Japonica Array NEO (JPA NEO), comprising a total of 666,883 markers. Among them, 654,246 tag SNPs of autosomes and X chromosome were selected from an expanded reference panel of 3,552 Japanese, 3.5KJPNv2, using pairwise r2 of linkage disequilibrium measures. Additionally, 28,298 markers were included for the evaluation of previously identified disease risk markers from the literature and databases, and those present in the Japanese population were extracted using the reference panel. Through genotyping 286 Japanese samples, we found that the imputation quality r2 and INFO score in the minor allele frequency bin >2.5-5% were >0.9 and >0.8, respectively, and >12 million markers were imputed with an INFO score >0.8. From these results, JPA NEO is a promising tool for genotyping the Japanese population with genome-wide coverage, contributing to the development of genetic risk scores.
用于全基因组关联研究的特定于种族的单核苷酸多态性(SNP)阵列对于增加多样化人群中的全基因组关联研究的效力变得越来越重要。在东北医学巨型数据库项目中,我们一直在基于来自日本人群全基因组序列数据构建的参考面板,为参与者开发一系列粳稻阵列(JPA)用于基因分型。在这里,我们为日本人群设计了一种新型 SNP 阵列,称为粳稻阵列 NEO(JPA NEO),总共包含 666,883 个标记。其中,通过使用连锁不平衡测量的成对 r2 从扩展的 3552 个日本人参考面板 3.5KJPNv2 中选择了 654,246 个常染色体和 X 染色体的标签 SNP。此外,还包括了 28,298 个标记,用于评估来自文献和数据库中先前确定的疾病风险标记物,并且使用参考面板提取了存在于日本人群中的标记物。通过对 286 个日本样本进行基因分型,我们发现,在次要等位基因频率 bin >2.5-5%的情况下,估计质量 r2 和 INFO 评分分别>0.9 和>0.8,并且>1200 万个标记具有>0.8 的 INFO 评分。从这些结果来看,JPA NEO 是一种具有全基因组覆盖范围的日本人群基因分型的有前途的工具,有助于遗传风险评分的发展。