ApoE基因单核苷酸多态性与桂西壮族人群泌尿系结石相关性研究

发布时间：2018-04-27 04:11

  本文选题：泌尿系结石 + 壮族　； 参考：《右江民族医学院》2017年硕士论文

【摘要】：目的:研究ApoE及与其他部分血脂(TC、TG、LDL-c、HDL-c、ApoA、ApoB)指标的表达水平与桂西壮族人群泌尿系结石的相关性;筛查ApoE基因上是否有存在与桂西壮族人群泌尿系结石相关的单核苷酸多态性位点;并分析各个单核苷酸多态性位点中哪些基因型和等位基因有增高桂西壮族人群患泌尿系结石的风险。方法:分别选取来我院就诊的100例壮族泌尿系结石患者与100例壮族体检正常者为实验组和对照组,采用全自动生化分析仪测量ApoE及其他部分血脂指标(TC、TG、LDL-c、HDL-c、ApoA、ApoB)表达水平,分析各指标在两组人群中的的差异;采用PCR-直接测序法检测两组人群ApoE基因序列,查看是否存在单核苷酸多态性位点,以及每个位点上各基因型和等位基因频率在两组人群间的差异。因ApoE基因前三个外显子(Exon1,Exon2,Exon3)序列相对较短,检测Exon1,Exon2和Exon3所有位点序列;因ApoE基因第四外显子和启动子附近序列较长,依据NCBI中SNP数据库的检索结果,纳入ApoE基因启动子附近rs449647、rs405509位点和第四外显子区rs429358和rs7412位点四个位点进行检测。结果:两组受检者的血清ApoA、ApoB和LDL-c水平对比差异无统计学意义,而ApoE及TC、TG、HDL-c水平对比差异有统计学意义。在两组受检查者中,未发现ApoE基因Exon1,Exon2和Exon3上存在单核苷酸多态性位点。在ApoE基因rs449647和rs7412位点上,两组人群的基因型、等位基因频率分布差异均无统计学意义。在ApoE基因启动子附近的rs405509位点上,两组人群的基因型频率分布差异无统计学意义,而等位基因型频率分布差异有统计学意义,在泌尿结石组中T出现的频率要显著高于健康对照组,并且T等位基因相较于A等位基因来说,有增加患泌尿系结石的风险(OR=1.53,95%CI:1.02~2.29,P=0.04)。在ApoE基因第四外显子中的rs429358位点上,两组人群的基因型和等位基因频率分布差异均有统计学意义,在泌尿结石组中TC基因型出现的频率要显著高于健康对照组,并且TC基因型相较于TT基因型来说,TC基因型有显著增加患泌尿系结石的风险(OR=2.84,95%CI:1.32~6.14,P=0.006),此外,在泌尿结石组C等位基因出现频率要显著高于健康对照组,并且C等位基因相较于T等位基因来说,有显著增加患泌尿结石的风险(OR=2.57,95%CI:1.32~5.35,P=0.01)。结论:在桂西壮族人群中,高ApoE、TC、TG、水平及低HDL-c水平与泌尿系结石形成相关,而血清ApoA、ApoB和LDL-c水平与泌尿系结石不相关。此外在ApoE基因第1、2、3外显子上未发现与桂西壮族人群泌尿系结石相关的单核苷酸位点。ApoE基因上启动子区附近的rs405509和第四外显子上的rs429358位点的基因多态性与桂西壮族人群泌尿系结石存在相关性,rs405509位点上的T等位基因和rs429358位点上的TC基因型、C等位基因均是桂西壮族人群泌尿系结石发病的易感因子。
[Abstract]:Objective: to study the correlation between the expression of ApoE and TCG-TGG LDL-cApoB and urinary tract stones in Zhuang nationality of western Guangxi, and to screen for the existence of single nucleotide polymorphism (SNP) in the ApoE gene associated with urinary tract stones in Zhuang nationality in western Guangxi. The genotypes and alleles of each single nucleotide polymorphism locus (SNP) were analyzed to increase the risk of urinary calculi in Guanxi Zhuang population. Methods: 100 patients with urolithiasis of Zhuang nationality and 100 healthy persons of Zhuang nationality were selected as experimental group and control group respectively. ApoE and other blood lipid indexes were measured by automatic biochemical analyzer. To analyze the differences of each index in the two groups, and to detect the sequence of ApoE gene by PCR-direct sequencing method, to see if there is a single nucleotide polymorphism locus (SNP) in the two groups. And the frequency of each genotype and allele at each locus was different between the two groups. Because the first three exons of ApoE gene exon 1, exon 2, exon3) were relatively short, all the sequences of Exon1 exon2 and Exon3 were detected, and because of the long sequence near exon 4 and promoter of ApoE gene, according to the results of SNP database retrieval in NCBI, Four loci of rs449647, rs405509 and rs429358 and rs7412 in exon 4 of ApoE gene were detected. Results: there was no significant difference in serum ApoA ApoB and LDL-c levels between the two groups, but there were significant differences in ApoE and TCU TGV HDL-c levels between the two groups. No single nucleotide polymorphisms were found in ApoE gene Exon1 exon2 and Exon3 in the two groups. At the rs449647 and rs7412 loci of ApoE gene, there was no significant difference in genotype and allele frequency distribution between the two groups. At the rs405509 locus near the promoter of ApoE gene, there was no significant difference in genotype frequency distribution between the two groups, but there was significant difference in allele frequency distribution between the two groups. The frequency of T in urolithiasis group was significantly higher than that in healthy control group, and T allele increased the risk of urinary calculi compared with A allele. In the rs429358 locus of exon 4 of ApoE gene, there were significant differences in genotype and allele frequency between the two groups, and the frequency of TC genotype in urolithiasis group was significantly higher than that in healthy control group. Compared with TT genotype, TC genotype significantly increased the risk of urinary calculi. In addition, the frequency of allele C in urolithiasis group was significantly higher than that in healthy control group, and the frequency of allele C in urolithiasis group was significantly higher than that in healthy control group. Compared with T allele, C allele has significantly increased the risk of urinary calculi. Conclusion: in the Zhuang nationality of western Guangxi, the high ApoEG and low HDL-c levels were correlated with the formation of urinary calculi, but the serum ApoAP-ApoB and LDL-c levels were not correlated with urinary calculi. In addition, there was no single nucleotide locus associated with urinary system stone in the exon 1 of ApoE gene. The polymorphism of rs405509 near the promoter region of ApoE gene and the rs429358 locus on exon 4 were not found in Guanxi Zhuang nationality. The T allele at rs405509 locus and the TC genotype C allele at rs429358 locus were all the susceptible factors of urinary calculi in Zhuang nationality in western Guangxi.
【学位授予单位】：右江民族医学院
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R691.4

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