Clinical significance of germline copy number variation in susceptibility of human diseases

Liwen Hu; Xinyue Yao; Hairong Huang; Zhong Guo; Xi Cheng; Yang Xu; Yi Shen; Biao Xu; Demin Li

doi:10.1016/j.jgg.2018.01.001

Volume 45 Issue 1

Jan. 2018

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Clinical significance of germline copy number variation in susceptibility of human diseases

doi: 10.1016/j.jgg.2018.01.001

Liwen Hu^{a, #},
Xinyue Yao^{b, #},
Hairong Huang^{a, #},
Zhong Guo^a,
Xi Cheng^a,
Yang Xu^a,
Yi Shen^a,
Biao Xu^a,
Demin Li^a

a
Department of Cardiothoracic Surgery, Jinling Hospital, School of Clinical Medicine, Nanjing University, Nanjing 210002, China
b
Institute of Laboratory Medicine, Jinling Hospital, School of Clinical Medicine, Nanjing University, Nanjing 210002, China

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Corresponding author: E-mail address: prof_yishen@sina.com (Yi Shen); E-mail address: xubiao3000@163.com (Biao Xu); E-mail address: thorax_demin@163.com (Demin Li)
Received Date: 2017-02-01
Accepted Date: 2018-01-02
Rev Recd Date: 2017-12-27

Available Online: 2018-01-05

Publish Date: 2018-01-20

Abstract

Abstract

Germline copy number variation (CNV) is considered to be an important form of human genetic polymorphisms. Previous studies have identified amounts of CNVs in human genome by advanced technologies, such as comparative genomic hybridization, single nucleotide genotyping, and high-throughput sequencing. CNV is speculated to be derived from multiple mechanisms, such as nonallelic homologous recombination (NAHR) and nonhomologous end-joining (NHEJ). CNVs cover a much larger genome scale than single nucleotide polymorphisms (SNPs), and may alter gene expression levels by means of gene dosage, gene fusion, gene disruption, and long-range regulation effects, thus affecting individual phenotypes and playing crucial roles in human pathogenesis. The number of studies linking CNVs with common complex diseases has increased dramatically in recent years. Here, we provide a comprehensive review of the current understanding of germline CNVs, and summarize the association of germline CNVs with the susceptibility to a wide variety of human diseases that were identified in recent years. We also propose potential issues that should be addressed in future studies.
- Copy number variation,
- Susceptibility,
- Risk,
- Cancer,
- Neuropsychological disorders

These authors contributed equally to this work.

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References(110)

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