The Relationship Between Single Nucleotide Polymorphisms Of XRCC1 And Caspase9 Genes And Genetic Susceptibility To Hepatocellular Carcinoma In A Family Of Liver Cancer Families In Fusui, Guangxi

ObjectiveTo study the correlations between DNA repair gene XRCC1Arg194Trp, Arg280His, Arg399Gln polymorphism and genetic susceptibility to the heredity of hepatocellular carcinoma(HCC) of the liver cancer family groups in Fusui County of Guangxi.MethodsIn case-control study,21liver cancer family groups were selected as cases and10control family groups. PCR-RFLP were adopted to compare and analyze their XRCC1genetic polymorphism Arg194Trp, Arg280His, Arg399Gln, and then logistic regression model were used to analyze the relationship between XRCC1genetic polymorphism of the above sites and susceptibility to the heredity of hepatocellular carcinoma(HCC).Results 1.In the liver cancer family groups in Fusui County of Guangxi, the Arg and Trp genetic frequency of the gene194Trg is76.20%&23.80%(liver cancer patients),66.37%&33.63%(other healthy people)and51.32%&48.68%(control family groups). The result of chi-square test of liver cancer patients and control family groups is ?2=12.091, P=0.002. The result of chi-square test of liver cancer patients and control family groups is ?2=12.091, P=0.002.2.In the liver cancer family groups in Fusui County of Guangxi, the Arg and Gln genetic frequency of the gene399Gln is69.05%&30.95%(liver cancer patients),79.10%&20.90%(other healthy people) and86.84%&13.16%(control family groups). The result of chi-square test of liver cancer patients and other healthy people is ?=1.848, P=0.397; the result of chi-square test of liver cancer patients and control family groups is?2=6.588, P=0.037.3. In the liver cancer family groups in Fusui County of Guangxi, for people with gene194Arg/Trp and Trp/Trp who are not liver cancer patients, the risk of suffering from HCC is0.473times (95%CI=0.117-1.914, P=0.294) and0.426times (95%CI=0.064-2.858, P=0.380) than those with Arg/Arg. For those with gene194Arg/Trp and Trp/Trp living in control family in liver cancer family, the risk of suffering from HCC is0.206times (95%CI=0.035-1.201, P=0.079) and0.240times (95%CI=0.027-2.168, P=0.204) than those with Arg/Arg.4. In the liver cancer family groups in Fusui County of Guangxi, for people with gene399Arg/Gln and Gln/Gln who are not liver cancer patients, the risk of suffering from HCC is0.811times (95%CI=0.193-3.414, P=0.775) and2.290times (95%CI=0.329-15.919, P=0.402) than those with Arg/Arg. For those living in control family, the risk of suffering from HCC is1.047times (95%CI=0.225-4.876, P=0.953) and1.034E9times (95%CI=0, P=0.999) than those with gene Arg/Arg. Conclusions1. In the liver cancer family groups and control family groups in Fusui County of Guangxi, there is difference between Arg194Trp genetic frequency and Arg399Gln genetic frequency.2. Allele Arg194Trp may be protection gene for the occurrence of HCC.3. Allele Arg399Gln may be risk gene for the occurrence of HCC. ObjectiveTo study the correlations between the cSNP of Caspase9, a apoptosis related protein, and genetic susceptibility to the heredity of hepatocellular carcinoma(HCC) of the liver cancer family groups in Fusui County of Guangxi.MethodsIn case-control study,21liver cancer family groups were selected as cases and10control family groups. PCR-RFLP were adopted to compare and analyze their Caspase9genetic polymorphism Val106Leu/Phe (rs2308938), Ile185Met (rs9282624), Arg221Gln(rs1052576), and then logistic regression model were used to analyze the relationship between Caspase9genetic polymorphism of the above sites and susceptibility to the heredity of hepatocellular carcinoma(HCC).Results 1.The genetic type of all the research object Val106Leu/Phe is homozygous mutant CC(Leu/Leu). The frequency of allele Leu is100%and allele Val0%.2. In the liver cancer family groups in Fusui County of Guangxi, the Ile and Met genetic frequency of the gene185Met is80.95%&19.05%(liver cancer patients),95.46%&4.54%(other healthy people) and93.42%&6.58%(control family groups). The result of chi-square test of liver cancer patients and control family groups is?2=9.016,P=0.003. The result of chi-square test of liver cancer patients and control family groups is ?2=4.896,P=0.027.3. In the liver cancer family groups in Fusui County of Guangxi, for people with gene185Ile/Met who are not liver cancer patients, the risk of suffering from HCC is24.094times(95%CI=1.318-440.598, P=0.032)than those with Ile/Ile. For those with gene185Ile/Met living in control family, the risk of suffering from HCC is13.970times(95%CI=1.213-160.862,P=0.034times)than those with Ile/Ile.4.In the liver cancer family groups in Fusui County of Guangxi, for people with gene221Arg/Gln and Gln/Gln who are not liver cancer patients, the risk of suffering from HCC is0.348times(95%CI=0.050-2.408,P=0.285)and0.320times(95%CI=0, P=0.999)than those with Arg/Arg. For those with gene221Arg/Gln and Gln/Gln living in control family in liver cancer family, the risk of suffering from HCC is0.748times(95%CI=0.032-17.493,P=0.857)and0times(95%CI=0,P=1)than those with Arg/Arg.5.Stratified analyses of HBV infection shows that, for those people with allele185Met in group HBV(+) in the liver cancer family groups in Fusui County of Guangxi, the risk of suffering from HCC is21.602times than those with allele Ile (95%CI=1.799-259.332, P=0.015). Those people with allele185Met in group HBV(-),the risk of suffering from HCC is5.620times than those with allele Ile(95%CI=0.169-187.205, P=0.334).Conclusions1. In the family groups in Fusui County of Guangxi, the genetic type of Val106Leu/Phe is homozygous mutant CC(Leu/Leu).The frequency of allele Leu is100%and allele Val0%.2. In the family groups in Fusui County of Guangxi, The distribution of the frequency of allele Ile185Met reveals obvious differences.3. Allele Ile185Met is risk gene for the occurrence of HCC and it works in coordination with HBV.4. Allele Arg221Gln may reduce the risk of the occurrence of HCC.