Hum Genet. 2005 Oct;118(1):1-11. doi: 10.1007/s00439-005-0009-9. Epub 2005 Aug 25.
Indian population, comprising of more than a billion people, consists of 4693 communities with several thousands of endogamous groups, 325 functioning languages and 25 scripts. To address the questions related to ethnic diversity, migrations, founder populations, predisposition to complex disorders or pharmacogenomics, one needs to understand the diversity and relatedness at the genetic level in such a diverse population. In this backdrop, six constituent laboratories of the Council of Scientific and Industrial Research (CSIR), with funding from the Government of India, initiated a network program on predictive medicine using repeats and single nucleotide polymorphisms. The Indian Genome Variation (IGV) consortium aims to provide data on validated SNPs and repeats, both novel and reported, along with gene duplications, in over a thousand genes, in 15,000 individuals drawn from Indian subpopulations. These genes have been selected on the basis of their relevance as functional and positional candidates in many common diseases including genes relevant to pharmacogenomics. This is the first large-scale comprehensive study of the structure of the Indian population with wide-reaching implications. A comprehensive platform for Indian Genome Variation (IGV) data management, analysis and creation of IGVdb portal has also been developed. The samples are being collected following ethical guidelines of Indian Council of Medical Research (ICMR) and Department of Biotechnology (DBT), India. This paper reveals the structure of the IGV project highlighting its various aspects like genesis, objectives, strategies for selection of genes, identification of the Indian subpopulations, collection of samples and discovery and validation of genetic markers, data analysis and monitoring as well as the project's data release policy.
印度人口超过10亿，由4693个社群组成，包含数千个内部通婚群体、325种使用中的语言以及25种文字。为了解决与种族多样性、移民、奠基人群体、复杂疾病易感性或药物基因组学相关的问题，人们需要了解如此多样化人群在基因层面的多样性和关联性。在此背景下，科学与工业研究理事会（CSIR）的六个成员实验室在印度政府的资助下，启动了一个利用重复序列和单核苷酸多态性进行预测医学的网络项目。印度基因组变异（IGV）联盟旨在为来自印度亚群体的15000个人提供超过1000个基因中已验证的单核苷酸多态性（SNP）和重复序列的数据，包括新发现的和已报道的，以及基因复制情况。这些基因是根据它们在许多常见疾病中作为功能和定位候选基因的相关性来选择的，包括与药物基因组学相关的基因。这是对印度人群结构的首次大规模综合研究，具有广泛影响。还开发了一个用于印度基因组变异（IGV）数据管理、分析以及创建IGVdb门户的综合平台。样本采集遵循印度医学研究理事会（ICMR）和印度生物技术部（DBT）的伦理准则。本文揭示了IGV项目的结构，突出了其各个方面，如起源、目标、基因选择策略、印度亚群体的识别、样本采集以及遗传标记的发现与验证、数据分析与监测，以及该项目的数据发布政策。
