Department of Applied Biology and Chemical Technology, The Hong Kong Polytechnic University, Hung Hom, Hong Kong.
Avalon Genomics (Hong Kong) Limited, Shatin, Hong Kong.
Sci Rep. 2018 Jan 30;8(1):1853. doi: 10.1038/s41598-017-19017-y.
The genetic bases of many common diseases have been identified through genome-wide association studies in the past decade. However, the application of this approach on public healthcare planning has not been well established. Using Macau with population of around 650,000 as a basis, we conducted a pilot study to evaluate the feasibility of population genomic research and its potential on public health decisions. By performing genome-wide SNP genotyping of over a thousand Macau individuals, we evaluated the population genetic risk profiles of 47 non-communicable diseases and traits, as well as two traits associated with influenza infection. We found that for most of the diseases, the genetic risks of Macau population were different from those of Caucasian, but with similar profile with mainland Chinese. We also identified a panel of diseases that Macau population may have a high or elevated genetic risks. This pilot study showed that (1) population genomic study is feasible in Asian regions like Macau; (2) Macau may have different profile of population-based genetic risks than Caucasians, (3) the different prevalence of genetic risk profile indicates the importance of Asian-specific studies for Asian populations; and (4) the results generated may have an impact for going forward healthcare planning.
在过去十年中，通过全基因组关联研究已经确定了许多常见疾病的遗传基础。然而，这种方法在公共医疗保健规划中的应用尚未得到很好的建立。我们以人口约 65 万的澳门为基础，进行了一项试点研究，以评估人群基因组研究及其在公共卫生决策中的潜力。通过对一千多名澳门个体进行全基因组 SNP 基因分型，我们评估了 47 种非传染性疾病和特征以及两种与流感感染相关的特征的人群遗传风险概况。我们发现，对于大多数疾病，澳门人群的遗传风险与白种人不同，但与中国大陆人群的风险特征相似。我们还确定了一组澳门人群可能具有较高或升高遗传风险的疾病。这项试点研究表明：(1) 人群基因组研究在澳门等亚洲地区是可行的；(2) 澳门人群的基于人群的遗传风险特征可能与白种人不同；(3) 遗传风险特征的不同流行率表明，亚洲人群需要进行亚洲特有的研究；(4) 研究结果可能会对未来的医疗保健规划产生影响。
