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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.
Highlights
Analyzing the impact of human migration on genetic disease susceptibility is critical to the understanding of complex disease
Our findings place the genetic basis of disease susceptibility in the context of human migration and increase understanding of the role of population differentiation in complex disease
The HGDPCEPH cohort represents 51 populations from around the world, with .650,000 genotyped single nucleotide polymorphisms (SNPs) per person. We combined this cohort with SNPs from our disease association database and were able to assess the genetic risk of disease of all populations in the Human Genome Diversity Panel (HGDP)-CEPH cohort
Summary
Analyzing the impact of human migration on genetic disease susceptibility is critical to the understanding of complex disease. A worldwide human relationships phylogenetic tree was constructed after genotyping over 50 worldwide populations [1]. This process has enabled researchers to characterize worldwide genetic variation and has provided information regarding migrations that founded entire populations [2,3]. Genome-Wide Association Studies (GWAS) have increased discoveries of disease-associated genetic loci. These developments have paved the way for studies investigating the effects of migration on the genetic basis of disease [4,5,6]
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