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The promise of discovering population-specific disease-associated genes in South Asia
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The promise of discovering population-specific disease-associated genes in South Asia
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Journal Article
The promise of discovering population-specific disease-associated genes in South Asia
2017
Overview
Kumarasamy Thangaraj, David Reich and colleagues identify 81 South Asian groups descended from extreme founder events, including 14 with a census size of over 1 million people, thus providing an opportunity to test for and decrease the burden of recessive genetic diseases in these populations.
The more than 1.5 billion people who live in South Asia are correctly viewed not as a single large population but as many small endogamous groups. We assembled genome-wide data from over 2,800 individuals from over 260 distinct South Asian groups. We identified 81 unique groups, 14 of which had estimated census sizes of more than 1 million, that descend from founder events more extreme than those in Ashkenazi Jews and Finns, both of which have high rates of recessive disease due to founder events. We identified multiple examples of recessive diseases in South Asia that are the result of such founder events. This study highlights an underappreciated opportunity for decreasing disease burden among South Asians through discovery of and testing for recessive disease-associated genes.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Animal Genetics and Genomics
/ Asia
/ Census
/ Datasets
/ Disease
/ Genes
/ Genetic Predisposition to Disease - ethnology
/ Genetic Predisposition to Disease - genetics
/ Genetics, Population - methods
/ Genome-Wide Association Study
/ Genomes
/ Genotype
/ Humans
/ letter
/ Mutation
/ Polymorphism, Single Nucleotide
/ Principal Component Analysis
