全基因组关联研究在一个日本人群中的血液学和生物化学特征。

Genome-wide association study of hematological and biochemical traits in a Japanese population.

机构信息

Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, the University of Tokyo, Tokyo, Japan.

出版信息

Nat Genet. 2010 Mar;42(3):210-5. doi: 10.1038/ng.531. Epub 2010 Feb 7.

DOI:10.1038/ng.531

PMID:20139978

Abstract

We report genome-wide association studies for hematological and biochemical traits from approximately 14,700 Japanese individuals. We identified 60 associations for 8 hematological traits and 29 associations for 12 biochemical traits at genome-wide significance levels (P < 5 x 10(-8)). Of these, 46 associations were new to this study and 43 replicated previous reports. We compared these associated loci with those reported in similar GWAS in European populations. When the minor allele frequency was >10% in the Japanese population, 32 (94.1%) and 31 (91.2%) of the 34 hematological loci previously reported to be associated in a European population were replicated with P-values less than 0.05 and 0.01, respectively, and 31 (73.8%) and 27 (64.3%) of the 42 European biochemical loci were replicated.

摘要

我们报告了来自大约 14700 名日本个体的全基因组关联研究，用于血液学和生化特征。我们在全基因组显著水平（P < 5 x 10(-8))）鉴定出了 8 种血液学特征和 12 种生化特征的 60 个关联和 29 个关联。其中，46 个关联是本研究中的新发现，43 个复制了以前的报告。我们将这些相关的基因座与欧洲人群中报道的类似 GWAS 进行了比较。当日本人群中的次要等位基因频率>10%时，34 个先前报道与欧洲人群相关的 34 个血液学基因座中的 32 个（94.1%）和 31 个（91.2%）分别以 P 值小于 0.05 和 0.01 复制，而 42 个欧洲生化基因座中的 31 个（73.8%）和 27 个（64.3%）复制。