Document Type

Capstone Experience

Graduation Date

8-2019

Degree Name

Master of Public Health

Department

Biostatistics

First Committee Member

Jiangtao Luo, Ph.D.

Second Committee Member

Haitao Chen, Ph.D.

Third Committee Member

Hongmei Wang, Ph.D.

Abstract

With one third of the Hepatitis B virus (HBV) infection population of the world, chronic Hepatitis B (CHB) has become a top burden in China. CHB is a lifelong infection with HBV which can cause serious health problems, like cirrhosis, liver cancer or even death. HBV infection is known to result in various clinical conditions, including asymptomatic HBV carriers to chronic hepatitis and primary hepatocellular carcinoma. Several studies have shown that host genetic susceptibility could be an important factor that determines these various outcomes of HBV infection. Many Single Nucleotide Polymorphisms (SNPs) and Copy Number Variations (CNVs) have been associated with genetic susceptibility for many diseases including the HBV infection. SNPs and CNVs of the host could determine the CHB outcomes and disease progression. In this project, we conducted SNP-based and copy number polymorphic region (CNPR) - based CNV analysis of the genotyping data generated from 2,689 CHB patients and 1,200 healthy controls in Chinese population by Illumina Human OmniExpress BeadChip and OmniZhonghua BeadChip. Based on the analysis results, we found 8 deletion CNPRs, as well as 3 duplication CNPRs were significantly changed between CHB patients and healthy controls. Moreover, there were nine genes revealed the copy number loss, including FGFR3 (p=1.49X10-7), FGR-3 (p=1.49X10-7), LETM1 (p=1.49X10-7), TACC3 (p=1.49X10-7), TMEM129 (p=1.49X10-7), PANK4 (p=4.55X10-4), PLCH2 (p=4.55X10-4), CED-6 (p=2.04X10-4), DIRC1 (p=2.04X10-4), as well as three genes revealed the copy number gain, including FLJ43080 (p=2.50X10-5), CSMD3 (p=6.288X10-5), MGAT4C (p=1.52X10-4) in CHB patients compared with healthy controls. It is important to understand the functions of these genes and the mechanisms through which these genes are associated with HBV infection and CHB development. Through the CNVs analysis, we provided potential therapeutic targets and novel diagnosis markers for HBV infection and CHB development.

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