Department of Cellular and Molecular Medicine, BV Patel Pharmaceutical Education and Research Development Centre, Thaltej-Gandhinagar Highway, Ahmedabad, India.
J Hum Genet. 2012 Jan;57(1):6-13. doi: 10.1038/jhg.2011.108. Epub 2011 Sep 29.
Inter-individual genomic variations have recently become evident with advances in sequencing techniques and genome-wide array comparative genomic hybridization. Among such variations single nucleotide polymorphisms (SNPs) are widely studied and better defined because of availability of large-scale detection platforms. However, insertion-deletions, inversions, copy-number variations (CNVs) also populate our genomes. The large structural variations (>3 Mb) have been known for past 20 years, however, their link to health and disease remain ill-defined. CNVs are defined as the segment of DNA >1 kb in size, and compared with reference genome vary in its copy number. All these types of genomic variations are bound to have vital role in disease susceptibility and drug response. In this review, the discussion is confined to CNVs and their link to health, diseases and drug response. There are several CNVs reported till date, which have important roles in an individual's susceptibility to several complex and common disorders. This review compiles some of these CNVs and analyzes their involvement in diseases in different populations, analyses available evidence and rationalizes their involvement in the development of disease phenotype. Combined with SNP, additional genomic variations including CNV, will provide better correlations between individual genomic variations and health.
个体间基因组变异随着测序技术和全基因组芯片比较基因组杂交技术的进步而逐渐显现。在这些变异中，由于大规模检测平台的可用性，单核苷酸多态性（SNP）得到了广泛的研究和更好的定义。然而，插入-缺失、倒位和拷贝数变异（CNV）也存在于我们的基因组中。大的结构变异（>3Mb）在过去的 20 年中已经被人们所知，但它们与健康和疾病的联系仍未被明确界定。CNV 被定义为大小大于 1kb 的 DNA 片段，与参考基因组相比，其拷贝数存在差异。所有这些类型的基因组变异都可能在疾病易感性和药物反应中发挥重要作用。在这篇综述中，讨论仅限于 CNV 及其与健康、疾病和药物反应的关系。迄今为止，已经有许多 CNV 被报道，它们在个体对多种复杂和常见疾病的易感性中起着重要作用。本综述汇编了其中一些 CNV，并分析了它们在不同人群中疾病中的作用，分析了现有证据，并将其在疾病表型发展中的作用合理化。与 SNP 结合，包括 CNV 在内的其他基因组变异将提供个体基因组变异与健康之间更好的相关性。
