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The promise of discovering population-specific disease-associated genes in South Asia.
Nature Genetics ( IF 30.8 ) Pub Date : 2017-Sep-01 , DOI: 10.1038/ng.3917
Nathan Nakatsuka , Priya Moorjani , Niraj Rai , Biswanath Sarkar , Arti Tandon , Nick Patterson , Gandham SriLakshmi Bhavani , Katta Mohan Girisha , Mohammed S Mustak , Sudha Srinivasan , Amit Kaushik , Saadi Abdul Vahab , Sujatha M Jagadeesh , Kapaettu Satyamoorthy , Lalji Singh , David Reich , Kumarasamy Thangaraj

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.

中文翻译:

在南亚发现与人口有关的特定疾病相关基因的希望。

正确地认为,居住在南亚的15亿多人口不是一个单一的大人口,而是许多小的内婚群体。我们收集了来自260多个不同南亚群体的2800多个个体的全基因组数据。我们确定了81个独特的群体,其中14个群体的普查规模估计超过100万,这些群体的创始人事件比Ashkenazi犹太人和Finns的极端事件更为极端,而这两个群体都因创始人事件而导致隐性疾病的发生率很高。我们确定了南亚这类创始人事件所致的许多隐性疾病实例。这项研究突显了通过发现和测试与疾病隐性相关的基因来减少南亚人疾病负担的机会不足。
更新日期:2017-08-31
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