Study on association between vitamin D receptor gene polymorphisms and the outcomes of HBV infection / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore whether the vitamin D receptor gene (VDR) polymorphisms are associated with the outcomes of hepatitis B virus (HBV) infection in Chinese Han population.</p><p><b>METHODS</b>Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the polymorphisms of Fok I locus in exon 2 and Taq I locus in exon 9 of VDR gene. One hundred and eighty-four chronic hepatitis B patients and 205 asymptomatic HBV carriers were recruited to make the comparison of frequencies of genotype and haplotype of the VDR gene between the patients and the carriers.</p><p><b>RESULTS</b>The univariate analysis showed a significant difference in Fok I polymorphism between chronic hepatitis B patients group and asymptomatic HBV carriers group. The FF genotype frequency in chronic hepatitis B patients group was 44.6%,higher than 31.7% in asymptomatic HBV carriers group (P<0.05). After adjusting the confounders by multiple logistic regression analysis, the result still showed a significant difference in Fok I site polymorphism between chronic hepatitis B patients group and asymptomatic HBV carriers group (OR=1.95, P<0.05). The FT haplotype frequency in chronic hepatitis B patients group was higher than that in asymptomatic HBV carriers group (OR=1.45, P<0.05). The fT haplotype frequency in chronic hepatitis B patients group was lower than that in asymptomatic HBV carriers group (OR=0.72, P<0.05).</p><p><b>CONCLUSION</b>VDR gene polymorphism may be an influence factor of genetic susceptibility to HBV infection.</p>

Relationship between polymorphisms of vitamin D receptor gene and familial aggregation of HBsAg carriers / 中国医学科学院学报

<p><b>OBJECTIVE</b>To determine whether -Taq I T/C and -Fok I C/T polymorphisms of vitamin D receptor (VDR) gene are associated with the familial aggregation of hepatitis B virus (HBV) infection.</p><p><b>METHODS</b>Based on a population-based case-control family design, 288 family members from 27 case families and 230 family members from 27 control families were recruited. VDR gene polymorphisms were analyzed. VDR-Taq I T/C and VDR-Fok I C/T polymorphisms were examined by polymerase chain reaction-restriction fragment length polymorphism.</p><p><b>RESULTS</b>The frequency of VDR-Taq I TT genotype in the case families was significantly higher than that in the control families (P < 0.05) , however, the frequency of VDR-Fok I CC genotype in the case families was significantly higher than that in the control families (P < 0.05). The frequency of family members carriying Taq I T-Fok I C haplotype in the case families was significantly higher than that in the control families (OR = 1.67, P < 0.05), however, the frequency of family members carrying Taq I C-Fok I T haplotype in the case families was significantly lower than that in the control families (OR = 0. 24, P < 0.05). The similar results were found in the familial biological kinship relatives with any HBV-infected makers.</p><p><b>CONCLUSION</b>VDR-Taq I and -Fok I gene polymorphisms are likely to play a substantial role in HBsAg familial aggregation.</p>

Association of-238G/A and -857C/T polymorphisms of tumor necrosis factor-alpha gene promoter region with outcomes of hepatitis B virus infection / 生物医学与环境科学（英文）

<p><b>OBJECTIVES</b>To determine whether -238G/A and -857C/T polymorphisms of tumor necrosis factor-alpha (TNF-alpha) gene promoter were associated with outcomes of hepatitis B virus infection.</p><p><b>METHODS</b>A total of 246 HBV self-limited infected subjects and 443 chronic hepatitis B (HB) patients were recruited in this case-control study. TNF-alpha-238G/A and -857C/T gene promoter polymorphisms were examined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).</p><p><b>RESULTS</b>The frequency of TNF-alpha-238 GG (90.7%) in chronic HB group was significantly lower than that (95.1%) in self-limited group (P = 0.041). The frequency of TNF-alpha-857 CC (79.7%) in chronic HB patients was significantly higher than that (70.9%) in self-limited infected subjects (P = 0.021). Multiple logistic regression analysis revealed that both TNF-alpha-238GA and -857CC were independently associated with chronic HB.</p><p><b>CONCLUSIONS</b>TNF-alpha promoter variants are likely to play a substantial role in influencing the outcomes of HBV infection.</p>

Association of TNFA polymorphisms with the outcomes of HBV infection / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore whether the TNFA promoter single nucleotide polymorphisms (SNPs) are associated with the outcomes of hepatitis B virus(HBV) infection in Chinese Han population.</p><p><b>METHODS</b>One hundred and forty-eight self-limited HBV infection subjects and 207 chronic hepatitis B patients were recruited. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and sequence specific primer-PCR(PCR-SSP) were used to detect the SNPs of five sites in TNFA promoter (-238G/A, -308G/A, -857C/T, -863C/A, -1031T/C). The frequency distributions of genotypes and haplotypes in different groups were analyzed by EPI and EH programs.</p><p><b>RESULTS</b>The frequencies of -238GG genotype in chronic hepatitis B patients were significantly higher than that in self-limited infection subjects (P=0.02). The frequencies of -857TT genotype in chronic hepatitis B patients were clearly lower than that in self-limited infection subjects (P=0.02). Haplotypic frequencies of GGCCT (-238/-308/-857/-863/-1031) in chronic hepatitis B patients was significantly lower than that in self-limited infection subjects (P=0.03), and the frequencies of haplotype GGCAT or GGTAT in chronic hepatitis B patients were clearly higher than those in self-limited infection subjects (P=0.0001; P=0.004).</p><p><b>CONCLUSION</b>TNFA promoter polymorphisms are important host genetic factors affecting the outcomes of HBV infection.</p>