Suppr超能文献

日本人群中乙型肝炎感染的全基因组拷贝数变异分析。

Genome-wide copy number variation analysis of hepatitis B infection in a Japanese population.

作者信息

Kikuchi Masataka, Kobayashi Kaori, Nishida Nao, Sawai Hiromi, Sugiyama Masaya, Mizokami Masashi, Tokunaga Katsushi, Nakaya Akihiro

机构信息

Department of Genome Informatics, Graduate School of Medicine, Osaka University, Osaka, Japan.

Medical Solutions Division, NEC Corporation, Tokyo, Japan.

出版信息

Hum Genome Var. 2021 Jun 8;8(1):22. doi: 10.1038/s41439-021-00154-w.

Abstract

Genome-wide association studies have been performed to identify common genetic variants associated with hepatitis B (HB). However, little is known about copy number variations (CNVs) in HB. In this study, we performed a genome-wide CNV analysis between 1830 healthy controls and 1031 patients with HB infection after quality control. Using signal calling by the Axiom Analysis Suite and CNV detection by PennCNV software, we obtained a total of 4494 CNVs across all individuals. The genes with CNVs that were found only in the HB patients were associated with the immune system, such as antigen processing. A gene-level CNV association test revealed statistically significant CNVs in the contactin 6 (CNTN6) gene. Moreover, we also performed gene-level CNV association tests in disease subgroups, including hepatocellular carcinoma patients, liver cirrhosis patients, and HBV carriers, including asymptomatic carriers and patients with HBV-derived chronic hepatitis. Our findings from germline cells suggested that patient-specific CNVs may be inherent genetic risk factors for HB.

摘要

全基因组关联研究已被用于识别与乙型肝炎(HB)相关的常见基因变异。然而,关于HB中的拷贝数变异(CNV)却知之甚少。在本研究中,我们在质量控制后对1830名健康对照和1031名HB感染患者进行了全基因组CNV分析。使用Axiom分析套件进行信号调用,并通过PennCNV软件进行CNV检测,我们在所有个体中总共获得了4494个CNV。仅在HB患者中发现的具有CNV的基因与免疫系统相关,如抗原加工。基因水平的CNV关联测试显示接触蛋白6(CNTN6)基因存在统计学上显著的CNV。此外,我们还在疾病亚组中进行了基因水平的CNV关联测试,包括肝细胞癌患者、肝硬化患者以及HBV携带者,包括无症状携带者和HBV衍生的慢性肝炎患者。我们在生殖细胞中的研究结果表明,患者特异性CNV可能是HB的内在遗传危险因素。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ca9/8187437/45ee35d9caf2/41439_2021_154_Fig1_HTML.jpg

相似文献

1
Genome-wide copy number variation analysis of hepatitis B infection in a Japanese population.
Hum Genome Var. 2021 Jun 8;8(1):22. doi: 10.1038/s41439-021-00154-w.
3
CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.
Eur J Med Genet. 2020 Jan;63(1):103636. doi: 10.1016/j.ejmg.2019.02.008. Epub 2019 Mar 2.
5
A novel scatterplot-based method to detect copy number variation (CNV).
Front Genet. 2023 Jul 6;14:1166972. doi: 10.3389/fgene.2023.1166972. eCollection 2023.
6
Copy number gain of pro-inflammatory genes in patients with HBV-related acute-on-chronic liver failure.
BMC Med Genomics. 2020 Dec 1;13(1):180. doi: 10.1186/s12920-020-00835-5.
7
Accuracy of CNV Detection from GWAS Data.
PLoS One. 2011 Jan 13;6(1):e14511. doi: 10.1371/journal.pone.0014511.
8
Inter- and intra-breed genome-wide copy number diversity in a large cohort of European equine breeds.
BMC Genomics. 2019 Oct 22;20(1):759. doi: 10.1186/s12864-019-6141-z.
9
Software comparison for evaluating genomic copy number variation for Affymetrix 6.0 SNP array platform.
BMC Bioinformatics. 2011 May 31;12:220. doi: 10.1186/1471-2105-12-220.
10
MCKAT: a multi-dimensional copy number variant kernel association test.
BMC Bioinformatics. 2021 Dec 11;22(1):588. doi: 10.1186/s12859-021-04494-w.

引用本文的文献

本文引用的文献

1
: drawing SVG graphics to visualize and map genome-wide data on the idiograms.
PeerJ Comput Sci. 2020 Jan 20;6:e251. doi: 10.7717/peerj-cs.251. eCollection 2020.
2
Somatic mutations and clonal dynamics in healthy and cirrhotic human liver.
Nature. 2019 Oct;574(7779):538-542. doi: 10.1038/s41586-019-1670-9. Epub 2019 Oct 23.
3
A global view of hepatocellular carcinoma: trends, risk, prevention and management.
Nat Rev Gastroenterol Hepatol. 2019 Oct;16(10):589-604. doi: 10.1038/s41575-019-0186-y. Epub 2019 Aug 22.
4
Genome-wide Analysis of Common Copy Number Variation and Epithelial Ovarian Cancer Risk.
Cancer Epidemiol Biomarkers Prev. 2019 Jul;28(7):1117-1126. doi: 10.1158/1055-9965.EPI-18-0833. Epub 2019 Apr 4.
5
Metascape provides a biologist-oriented resource for the analysis of systems-level datasets.
Nat Commun. 2019 Apr 3;10(1):1523. doi: 10.1038/s41467-019-09234-6.
8
The Molecular Signatures Database (MSigDB) hallmark gene set collection.
Cell Syst. 2015 Dec 23;1(6):417-425. doi: 10.1016/j.cels.2015.12.004.
9
Large-scale imputation of epigenomic datasets for systematic annotation of diverse human tissues.
Nat Biotechnol. 2015 Apr;33(4):364-76. doi: 10.1038/nbt.3157. Epub 2015 Feb 18.
10
Association of VARS2-SFTA2 polymorphisms with the risk of chronic hepatitis B in a Korean population.
Liver Int. 2015 Aug;35(8):1934-40. doi: 10.1111/liv.12740. Epub 2015 Jan 10.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验