The association of TGF beta1 and AT1R gene polymorphisms with hereditary susceptibility and clinical phenotype of HBV-induced liver cirrhosis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the association of TGF beta1 and AT1R gene polymorphisms with hereditary susceptibility and clinical phenotype of HBV-induced liver cirrhosis.</p><p><b>METHODS</b>Peripheral blood samples were collected from 102 patients with HBV-induced liver cirrhosis and 106 healthy blood donors. The polymorphisms of the promoter site -509C/T of TGF beta1 and 1166A/C of AT1R gene were determined by PCR-RFLP.</p><p><b>RESULTS</b>The frequency of the homozygote CC of -509C/T of TGF beta1 gene in the group of liver cirrhosis was higher than that the control group (P<0.05); and the frequency rate of homozygote CC was higher in group C than in group A and group B of liver cirrhosis (P<0.05), but there was no significant difference in allele frequency among these group (P>0.05). There was no significant difference in genotypes and allele frequency of AT1R gene 1166A/C between the liver cirrhosis group and the control group (P>0.05).</p><p><b>CONCLUSION</b>The polymorphism of the promoter site -509C/T of TGF beta1 gene is associated with hereditary susceptibility to liver cirrhosis and severity of HBV-induced liver cirrhosis; the polymorphism of AT1R gene 1166A/C is not associated with hereditary susceptibility to HBV-induced liver cirrhosis.</p>

Interleukin 10 gene -627 polymorphisms in Chinese patients with early-onset coronary heart disease / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the relationship between interleukin 10 (IL10) gene -627 polymorphisms and serum IL10 level and early-onset coronary heart disease (CHD).</p><p><b>METHODS</b>The genotype and allele frequency of IL10 gene -627 site was assayed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). DNA samples were obtained from 163 patients with CHD and 112 controls. Serum IL10 level was detected by ELISA.</p><p><b>RESULTS</b>No significant difference was found in the distribution of IL10 genotype and allele frequency between the healthy controls and the patients with CHD; Chi-square values were 1.9324 and 1.5703 respectively, P > 0.05. Stratification analyses based on different sex still found no significant difference in the distribution of IL10 genotype and allele frequency between the healthy controls and the CHD patients; the Chi-square values in male groups were 1.2708 versus 0.8595, and in female groups were 0.8254 versus 0.7127, P > 0.05. Serum IL10 level showed significant differences among AA genotype, AC genotype and CC genotype, but no significant difference was noted between healthy controls and CHD patients.</p><p><b>CONCLUSION</b>These results suggest that IL10 gene -627 polymorphisms are not associated with an increased risk of CHD, but it might assume a role in IL10 gene expression.</p>