人类疾病发病机制中拷贝数变异（CNV）的遗传关联分析。
Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis.
作者信息
Ionita-Laza Iuliana, Rogers Angela J, Lange Christoph, Raby Benjamin A, Lee Charles
机构信息
Department of Biostatistics, Harvard School of Public Health, 655 Huntington Avenue, Boston, MA 02115, USA.
出版信息
Genomics. 2009 Jan;93(1):22-6. doi: 10.1016/j.ygeno.2008.08.012. Epub 2008 Oct 19.
Abstract
Structural genetic variation, including copy-number variation (CNV), constitutes a substantial fraction of total genetic variability and the importance of structural genetic variants in modulating human disease is increasingly being recognized. Early successes in identifying disease-associated CNVs via a candidate gene approach mandate that future disease association studies need to include structural genetic variation. Such analyses should not rely on previously developed methodologies that were designed to evaluate single nucleotide polymorphisms (SNPs). Instead, development of novel technical, statistical, and epidemiologic methods will be necessary to optimally capture this newly-appreciated form of genetic variation in a meaningful manner.
摘要
包括拷贝数变异（CNV）在内的结构遗传变异构成了总遗传变异性的很大一部分，并且结构遗传变异在调节人类疾病中的重要性日益得到认可。通过候选基因方法在鉴定与疾病相关的CNV方面取得的早期成功表明，未来的疾病关联研究需要纳入结构遗传变异。此类分析不应依赖于先前开发的旨在评估单核苷酸多态性（SNP）的方法。相反，开发新的技术、统计和流行病学方法对于以有意义的方式最佳地捕捉这种新认识到的遗传变异形式将是必要的。
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