Correlation Between The Single Nucleotide Polymorphism Of In Apolipoprotein E Gene And Urolithiasis In Zhuang From Guixi

Objective: In this study,we aimed to investigate the relationship between the levels of TC,TG,LDL-c,HDL-c,ApoA,ApoB,ApoE in serum and the urolithiasis in Zhuang from Guixi,and to explore the loci with single nucleotide polymorphism in the gene of ApoE.Besides,we tried to identify which genotypes and alleles in these loci of ApoE gene were associated with the urolithiasis.Methods: We selected 100 cases with urinary calculi as the observation group and 100 healthy subjects as the control group in Zhuang population.The Automatic Biochemical Analyzer was used to measure the levels of TC,TG,LDL-c,HDL-c,ApoA,ApoB,ApoE in serum,then we observed the the differences between the two groups.Besides,the Polymerase chain reaction(PCR)and gene sequencing technology were used to detect the sequence of all in the ApoE gene.So we could find out the loci with single nucleotide polymorphism in the gene of ApoE and identify these genotypes and alleles which are associated with urolithiasis.The sequence of the first three exons(Exon1,Exon2,Exon3)of ApoE gene is relatively short,so we detected all the sequences of Exon1,Exon2 and Exon3.Because the sequence in Exon4 and near the promoter is very long,we only dectected the sequence of rs449647,rs405509(in Exon4)and rs429358,rs7412(near the promoter)according to the retrieval results of the SNP database in NCBI.Results: There was no statistically significant difference found in the levels of LDL-c,ApoA and ApoB in serum between the two groups,but there was statistically significant difference in the levels of ApoE,TC,TG,and HDL-c in serum between the two groups.Wefound no loci with a single nucleotide polymorphism in Exon1,Exon2 and Exon3 in the two groups.There was no statistically significant difference in the frequency distribution of the genotype and the allele between the two groups in the rs449647 and rs7412 of the ApoE gene.We found that there was statistically significant difference in the frequency distribution of the allele in the rs405509(near the promoter of ApoE gene)between the two groups,but there was no statistically significant difference in the frequency distribution of the genotype in the locus,and the frequency of T in the cases was significantly higher than that in the controls.In the rs405509,compared with the allele A,the allele T can increase the risk of suffering from urinary stones(OR= 1.53,95%CI:1.02= 2.29,P= 0.04).Besides,We found that there was statistically significant difference in the frequency distribution of both the genotype and the allele in the rs429358(in Exon4 of ApoE gene)between the two groups,and the frequency of the TC genetype in the cases was significantly higher than that in the controls.In the rs429358,compared with the TT genetype,the TC genetype could increase the risk of suffering from urinary stones(OR=2.84,95%CI:1.32~6.14,P= 0.006).Furthermore,in this locus,compared with the T allele,the C allele can increase the risk of suffering from urinary stones(OR=2.57,95%CI: 1.32~5.35,P= 0.01).Conclusion: In Zhuang from Guixi,the high ApoE,TC,TG level and the low HDL-c level in serum was associated with the urolithiasis,but the level of ApoA,ApoB and LDL-c in serum was not correlated with the urolithiasis.In addition,we found no loci in Exon1,Exon2,Exon3 with a single nucleotide polymorphism which was related to the urolithiasis.But the single nucleotide polymorphism in the rs405509 and the rs429358 was associated with the urolithiasis.The T allele in the rs405509,the TC gentype and C allele in rs429358 are the susceptible factors of the urolithiasis in Zhuang from Guixi.