Laboratory for Statistical Analysis, Center for Genomic Medicine, RIKEN, Tokyo, Japan.
J Hum Genet. 2012 Mar;57(3):161-9. doi: 10.1038/jhg.2012.2. Epub 2012 Jan 26.
Hematological traits are essential biomedical indicators that are widely used in clinical practice. The elucidation of the etiology that determines an individual's hematological traits would have a substantial impact. Hematological traits are known to be heritable, and it has been suggested that genetic factors contribute significantly to the inter-individual variance of these traits. Here, we review our current knowledge regarding the genetic architecture of hematological traits in humans, most of which has been obtained through recent developments in genome-wide association studies (GWAS). In addition to current knowledge, which is based on the hematological traits of the three major blood-cell lineages (white blood cells; WBC, red blood cells; RBC, and platelets; PLT), we propose future approaches that would be useful as a next step in the post-GWAS era.
血液学特征是临床实践中广泛应用的重要生物医学指标。阐明决定个体血液学特征的病因将产生重大影响。血液学特征是可遗传的，并且有研究表明遗传因素对这些特征的个体间差异有重要贡献。在这里，我们回顾了人类血液学特征的遗传结构的现有知识，其中大部分是通过最近的全基因组关联研究（GWAS）获得的。除了基于三大血细胞谱系（白细胞；WBC、红细胞；RBC 和血小板；PLT）的血液学特征的现有知识外，我们还提出了在 GWAS 后时代的下一步中有用的未来方法。
