Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis

被引：144

作者：

Ionita-Laza, Iuliana ^{[2
]}

Rogers, Angela J. ^{[3
,4
]}

Lange, Christoph ^{[2
,3
,4
]}

Raby, Benjamin A. ^{[3
,4
]}

Lee, Charles ^{[1
]}

机构：

[1] Harvard Univ, Brigham & Womens Hosp, Sch Med, Dept Pathol, Boston, MA 02115 USA

[2] Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USA

[3] Harvard Univ, Brigham & Womens Hosp, Sch Med, Div Pulm & Crit Care Med,Channing Lab, Boston, MA 02115 USA

[4] Harvard Univ, Brigham & Womens Hosp, Sch Med, Ctr Genom Med, Boston, MA 02115 USA

来源：

GENOMICS | 2009年 / 93卷 / 01期

关键词：

Copy-number variation; CNV; Structural genetic variation; Disease association study; Complex trait; GENOME-WIDE ASSOCIATION; FAMILY-BASED ASSOCIATION; FACTOR-H POLYMORPHISM; STRUCTURAL VARIATION; FINE-SCALE; SUSCEPTIBILITY; VARIANTS; RISK; PREDISPOSES; SELECTION;

D O I：

10.1016/j.ygeno.2008.08.012

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

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. (C) 2008 Elsevier Inc. All rights reserved.

引用

页码：22 / 26

页数：5

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