Genome-wide analyses disclose the distinctive HLA architecture and the pharmacogenetic landscape of the Somali population.,Scientific Reports

当前位置： X-MOL 学术 › Sci. Rep. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

Genome-wide analyses disclose the distinctive HLA architecture and the pharmacogenetic landscape of the Somali population.
Scientific Reports ( IF 3.8 ) Pub Date : 2020-03-27 , DOI: 10.1038/s41598-020-62645-0
Abshir A Ali ₁ , Mikko Aalto ₂ , Jon Jonasson ₃ , Abdimajid Osman ₄

Affiliation

African populations are underrepresented in medical genomics studies. For the Somali population, there is virtually no information on genomic markers with significance to precision medicine. Here, we analyzed nearly 900,000 genomic markers in samples collected from 95 unrelated individuals in the North Eastern Somalia. ADMIXTURE program for estimation of individual ancestries revealed a homogenous Somali population. Principal component analysis with PLINK software showed approximately 60% East African and 40% West Eurasian genes in the Somali population, with a close relation to the Cushitic and Semitic speaking Ethiopian populations. We report the unique features of human leukocyte antigens (HLA) in the Somali population, which seem to differentiate from all other neighboring regions compared. Current study identified high prevalence of the diabetes type 1 (T1D) predisposing HLA DR-DQ haplotypes in Somalia. This finding may explain the increased T1D risk observed among Somali children. In addition, ethnic Somalis were found to host the highest frequencies observed thus far for several pharmacogenetic variants, including UGT1A4*2. In conclusion, we report that the Somali population displays genetic traits of significance to health and disease. The Somali dataset is publicly available and will add more information to the few genomic datasets available for African populations.

中文翻译：

全基因组分析揭示了索马里人群独特的HLA结构和药理遗传学前景。

在医学基因组学研究中，非洲人口的代表性不足。对于索马里人来说，实际上没有有关精确医学意义的基因组标志物的信息。在这里，我们分析了从索马里东北部95个无关个体收集的样本中的近90万个基因组标记。用于估计祖先的ADMIXTURE程序显示了索马里人口的均质性。使用PLINK软件进行的主成分分析显示，索马里人口中约60％的东非和40％的西欧亚基因与讲库希提语和闪米特语的埃塞俄比亚人口密切相关。我们报告了索马里人口中人类白细胞抗原（HLA）的独特特征，这似乎与所有其他邻近地区有所区别。当前研究确定了在索马里易患HLA DR-DQ单倍型的1型糖尿病（T1D）患病率较高。这一发现可能解释了在索马里儿童中观察到的T1D风险增加。此外，发现索马里族人拥有迄今为止观察到的几种药物遗传变异体（包括UGT1A4 * 2）的最高频率。总之，我们报告索马里人口显示出对健康和疾病具有重要意义的遗传特征。索马里数据集是公开可用的，它将为少数可用于非洲人口的基因组数据集增加更多信息。包括UGT1A4 * 2。总之，我们报告索马里人口显示出对健康和疾病具有重要意义的遗传特征。索马里数据集是公开可用的，它将为少数可用于非洲人口的基因组数据集增加更多信息。包括UGT1A4 * 2。总之，我们报告索马里人口显示出对健康和疾病具有重要意义的遗传特征。索马里数据集是公开可用的，它将为少数可用于非洲人口的基因组数据集增加更多信息。

更新日期：2020-03-27

点击分享查看原文

点击收藏

公开下载

阅读更多本刊最新论文本刊介绍/投稿指南11