Xinyue Yao
Hairong Huang
Zhong Guo
Xi Cheng
Yang Xu
Yi Shen
Biao Xu
Demin Li
aDepartment of Cardiothoracic Surgery, Jinling Hospital, School of Clinical Medicine, Nanjing University, Nanjing 210002, China
bInstitute of Laboratory Medicine, Jinling Hospital, School of Clinical Medicine, Nanjing University, Nanjing 210002, China
More InformationCorresponding 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.Keywords: Copy number variation,
Susceptibility,
Risk,
Cancer,
Neuropsychological disorders
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