线粒体DNA D环基因多态性与慢性肾脏病发病风险关系的研究

Relationship between single nucleotide polymorphisms in Mitochondrial Displacement-loop and the risk of chronic kidney disease

目的探讨线粒体DNA(mtDNA)D环(displacement loop,D-loop)区域基因多态性与慢性肾脏病(chronic kidney disease,CKD)发病风险的关系。方法应用病例对照研究,采用聚合酶链反应(PCR)对98例CKD 5期患者和159例健康对照组的mtDNA D-loop区进行扩增并测序。将测序结果与线粒体文库中的CRS(revised cambridge reference sequencer,CRS)进行比对分析。采用SPSS 17.0软件分析两组人群中mtDNA Dloop区多态位点频率分布的差异。结果与健康对照组相比,CKD患者的年龄、性别分布差异无统计学意义(P>0.05)。两组人群mtDNA D-loop区共发现103个多态性位点。其中,CKD患者73G、146C、150T、195C、16266CA的发生频率明显升高,差异均有统计学意义(P<0.05)。结论 CKD的发病风险可能与mtDNA Dloop区基因位点的多态性有关,对普通人群进行mtDNA D-loop序列分析有助于确定发生慢性肾脏病的高风险人群。

【Objective】 To investigate the relationship between single nucleotide polymorphisms in mitochondrial displacement-loop and the risk of chronic kidney disease. 【Methods】 We selected 98 chronic kidney disease patients who received maintenance hemodialysis in the center of hemodialysis at the Fourth Hospital of Hebei University. We also collected 159 healthy female controls. PCR and sequencing of mitochondrial displacement-loop was performed in patients and controls. The sequence results were compared and analyzed with the revised cambridge reference sequence（rCRS）. 【Results】 No statistical reference exists for distribution frequency of each SNP referring to age and sex. SNPs were detected in 103 sites of the 982 bp mitochondria D-Loop region from blood samples of the chronic kidney disease patients and the healthy controls.A statistically significant increase in SNP frequency for the 73 G, 146 C, 150 T, 195 C, 16266 CA alleles was observed in chronic kidney disease patients（P 〈0.05）. 【Conclusion】 The incidence of CKD are associated with the polymorphisms of some gene points in the D-Loop region of mtDNA. Analyze the sequence of mtDNA Dloop can help to identify the people who are at high risk of chronic kidney disease.