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分析疾病的遗传基础,结合全球范围内的人类关系和迁移情况。

Analysis of the genetic basis of disease in the context of worldwide human relationships and migration.

机构信息

Division of Systems Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.

出版信息

PLoS Genet. 2013 May;9(5):e1003447. doi: 10.1371/journal.pgen.1003447. Epub 2013 May 23.

Abstract

Genetic diversity across different human populations can enhance understanding of the genetic basis of disease. We calculated the genetic risk of 102 diseases in 1,043 unrelated individuals across 51 populations of the Human Genome Diversity Panel. We found that genetic risk for type 2 diabetes and pancreatic cancer decreased as humans migrated toward East Asia. In addition, biliary liver cirrhosis, alopecia areata, bladder cancer, inflammatory bowel disease, membranous nephropathy, systemic lupus erythematosus, systemic sclerosis, ulcerative colitis, and vitiligo have undergone genetic risk differentiation. This analysis represents a large-scale attempt to characterize genetic risk differentiation in the context of migration. We anticipate that our findings will enable detailed analysis pertaining to the driving forces behind genetic risk differentiation.

摘要

不同人群之间的遗传多样性可以增进对疾病遗传基础的理解。我们在人类基因组多样性面板的 51 个人群中,对 1023 名无亲缘关系的个体进行了 102 种疾病的遗传风险计算。我们发现,随着人类向东亚迁移,2 型糖尿病和胰腺癌的遗传风险降低。此外,胆汁性肝硬化、斑秃、膀胱癌、炎症性肠病、膜性肾病、系统性红斑狼疮、系统性硬皮病、溃疡性结肠炎和白癜风的遗传风险也出现了分化。这一分析代表了在迁移背景下对遗传风险分化进行大规模描述的一次尝试。我们预计,我们的发现将能够对遗传风险分化的驱动力进行详细分析。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2f88/3662561/7db37daa4ff7/pgen.1003447.g001.jpg

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