南亚基因组。
The South Asian genome.
作者信息
Chambers John C, Abbott James, Zhang Weihua, Turro Ernest, Scott William R, Tan Sian-Tsung, Afzal Uzma, Afaq Saima, Loh Marie, Lehne Benjamin, O'Reilly Paul, Gaulton Kyle J, Pearson Richard D, Li Xinzhong, Lavery Anita, Vandrovcova Jana, Wass Mark N, Miller Kathryn, Sehmi Joban, Oozageer Laticia, Kooner Ishminder K, Al-Hussaini Abtehale, Mills Rebecca, Grewal Jagvir, Panoulas Vasileios, Lewin Alexandra M, Northwood Korrinne, Wander Gurpreet S, Geoghegan Frank, Li Yingrui, Wang Jun, Aitman Timothy J, McCarthy Mark I, Scott James, Butcher Sarah, Elliott Paul, Kooner Jaspal S
机构信息
Epidemiology and Biostatistics, Imperial College London, Norfolk Place, London, United Kingdom; Imperial College Healthcare NHS Trust, London, United Kingdom; MRC-HPA Centre for Environment and Health, Imperial College London, Norfolk Place, London, United Kingdom; Ealing Hospital NHS Trust, Southall, Middlesex, United Kingdom.
Centre for Integrative Systems Biology and Bioinformatics, Imperial College London, London, United Kingdom.
出版信息
PLoS One. 2014 Aug 12;9(8):e102645. doi: 10.1371/journal.pone.0102645. eCollection 2014.
The genetic sequence variation of people from the Indian subcontinent who comprise one-quarter of the world's population, is not well described. We carried out whole genome sequencing of 168 South Asians, along with whole-exome sequencing of 147 South Asians to provide deeper characterisation of coding regions. We identify 12,962,155 autosomal sequence variants, including 2,946,861 new SNPs and 312,738 novel indels. This catalogue of SNPs and indels amongst South Asians provides the first comprehensive map of genetic variation in this major human population, and reveals evidence for selective pressures on genes involved in skin biology, metabolism, infection and immunity. Our results will accelerate the search for the genetic variants underlying susceptibility to disorders such as type-2 diabetes and cardiovascular disease which are highly prevalent amongst South Asians.
占世界人口四分之一的印度次大陆人群的基因序列变异情况尚未得到充分描述。我们对168名南亚人进行了全基因组测序，并对另外147名南亚人进行了全外显子组测序，以更深入地刻画编码区域。我们识别出12,962,155个常染色体序列变异，包括2,946,861个新的单核苷酸多态性（SNP）和312,738个新的插入缺失。这份南亚人SNP和插入缺失目录提供了这一主要人群基因变异的首张全面图谱，并揭示了对涉及皮肤生物学、新陈代谢、感染及免疫的基因存在选择压力的证据。我们的研究结果将加速对2型糖尿病和心血管疾病等在南亚人群中高度流行的疾病易感性相关基因变异的探寻。
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