Comprehensive investigating of cytokine and receptor related genes variants in patients with chronic hepatitis B virus infection

Autor: Junji Ma, Mingbang Wang, Dian-Wu Liu, Yuan Jia, Wenting An, Weili Xu, Lianxia Geng, Yuan Quan, Ning Ma, Fengxue Yu, Chaojun Zhang, Suzhai Tian, Lina Guo, Xuechen Liu, Xiaolin Zhang
Rok vydání: 2017
Předmět:
Zdroj: Cytokine. 103
ISSN: 1096-0023
Popis: Chronic hepatitis B virus (HBV) infection is a global health problem and the outcome are associated with both viral factors and host genetic factors. High Throughput Sequencing (HTS) technology were used to identify variants associated with liver disease.Fifty-five Chronic hepatitis B (CHB) patients, fifty-three self-healing HBV (SH) patients and 53 healthy controls (HC) were recruited, 404 cytokine and cytokine receptor related genes were captured and sequenced at high depth (900X), both variant (Fischer's exact test, P value 0.05) and gene (SKAT-O gene level test, adjust P value 0.05) level association were used to identify variants and genes associated with CHB.Total 5083 variants have been detected, fifty-four variants were found associated with CHB, most (29/32) variants were located in HLA region, including HLA-B, HLA-C, HLA-DQA1, HLA-DQB1, HLA-DQB2, HLA-DRB1 and HLA-DRB5. Several missense variants were found associated with CHB, including p.E226K in PVR (poliovirus receptor), p.E400A and p.C431R in IL4R (interleukin 4 receptor). Four variants located in 3'UTR (untranslated region) have also been found associated with CHB.Our study revealed that high through target region sequencing, combined with association analysis at variant and gene level, would be a good way to found variants and genes associated with CHB even at small sample size. Our data implied that chronic hepatitis B patients who carry these variants need intensive monitoring.
Databáze: OpenAIRE
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