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- Title
Genome-wide copy number variation analysis of hepatitis B infection in a Japanese population.
- Authors
Kikuchi, Masataka; Kobayashi, Kaori; Nishida, Nao; Sawai, Hiromi; Sugiyama, Masaya; Mizokami, Masashi; Tokunaga, Katsushi; Nakaya, Akihiro
- 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. Hepatitis B: Gene copy numbers associated with risk of infection The risk of contracting the hepatitis B virus may be linked to the number of copies of certain genes in an individual's genome. A Japanese team led by Masataka Kikuchi, Osaka University, and Akihiro Nakaya, University of Tokyo, looked for repeated segments of the genome, known as copy number variants (CNVs), that differed between people with hepatitis B infections and those without. Studying around 3000 individuals of Japanese descent, the researchers identified several rare CNVs associated with immune function in hepatitis-affected individuals. They also found a common CNV in a gene called CNTN6 that the hepatitis B virus often uses to integrate itself into the genome of liver cells, a process that can lead to cancer. The findings underscore the importance of CNVs as inherited risk factors for hepatitis B and other viral infections.
- Subjects
HEPATITIS B; DNA copy number variations; IMMUNE system; GERM cells; COMPUTER software
- Publication
Human Genome Variation, 2021, Vol 8, Issue 1, p1
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-021-00154-w