NPHS1、NPHS2基因多态性与桂西地区壮族散发性激素耐药型肾病综合征发病的相关性研究

发布时间：2018-11-16 09:46

【摘要】：目的：探讨NPHS1、NPHS2基因与桂西地区壮族散发性激素耐药型肾病综合征（SRNS）的关联，以及对nephrin、podocin蛋白水平和血清水平的影响。方法：采用聚合酶链式反应（PCR）和DNA测序方法检测桂西地区壮族无血缘关系的50例健康体检人群和50例散发性SRNS患者的NPHS1、NPHS2基因多态性。使用酶联免疫吸附试验（ELISA）检测nephrin、podocin血清水平，采用免疫组化法检测部分患者肾组织中nephrin、podocin蛋白的表达情况，分析其与NPHS1、NPHS2基因多态性的相关性。结果：散发性SRNS组和对照组NPHS2基因288CT位点多态性，在男女性别之间比较，当携带CC基因型、C等位基因时，其男女性别之间的分布有差异，呈正相关（分别为χ2=4.973，P=0.026；OR=3.306，95%CI：1.112～9.830和χ2=6.739，P=0.009；OR=2.478，95%CI：1.232～4.985）；954CT位点，在男女性别之间比较，携带C等位基因时，其分布有差异，呈正相关（为χ2=5.682，P=0.017；OR=2.377，95%CI：1.151～4.909）；1038AG位点，在男女性别之间比较，携带A等位基因时，其分布有差异，呈正相关（为χ2=5.227，P=0.022；OR=2.250，95%CI：1.110～4.561）。NPHS2基因多态性对散发性SRNS患者肾组织podocin蛋白表达和肾脏病理无影响，差异无统计学意义（P0.05）。散发性SRNS组血清nephrin、podocin蛋白表达水平均高于对照组，差异有统计学意义（P0.05）；散发性SRNS组中NPHS2基因288CT、954CT、1038AG位点基因型间血清podocin水平比较，差异有统计学意义（P0.05）。结论： 1、NPHS2基因288CT位点CC、954CT位点CC基因型是散发性SRNS的风险基因型，288CT位点C、954CT位点C、1038AG位点A等位基因的女性患者发生散发性SRNS的风险降低。 2、散发性SRNS患者肾组织存在nephrin、podocin蛋白表达，NPHS2基因多态性对肾组织podocin蛋白表达、肾脏病理无影响。 3、NPHS2基因多态性对散发性SRNS患者血清podocin水平有影响。
[Abstract]:Objective: to investigate the association of NPHS1,NPHS2 gene with (SRNS) in sporadic sex hormone resistant nephrotic syndrome (SRNS) of Zhuang nationality in western Guangxi and its effect on nephrin,podocin protein level and serum level. Methods: polymerase chain reaction (PCR) and DNA sequencing were used to detect the polymorphism of NPHS1,NPHS2 gene in 50 healthy controls and 50 sporadic SRNS patients. Enzyme linked immunosorbent assay (ELISA) was used to detect the serum level of nephrin,podocin and immunohistochemical method was used to detect the expression of nephrin,podocin protein in renal tissues of some patients. The relationship between the expression of nephrin,podocin protein and the polymorphism of NPHS1,NPHS2 gene was analyzed. Results: the polymorphism of 288CT locus of NPHS2 gene in sporadic SRNS group and control group was compared between male and female. When carrying CC genotype and C allele, there was a positive correlation between male and female (蠂 ~ 2 = 4.973, P = 0.026). OR=3.306,95%CI:1.112~9.830 and 蠂 ~ 2 6.739P ~ (0.009) ~ 2.478 ~ 95 CI: 1.232 ~ 4.985); The distribution of C allele in 954CT locus was positively correlated with that of male and female (蠂 2 = 5.682) (蠂 ~ 2 = 5.682) (蠂 ~ 2 = 5.682) (P < 0.017), and (2.377) ~ (95) CI: 1.151 / 4.909). There was a positive correlation between the distribution of A allele and the 1038AG locus between male and female (蠂 ~ 2 = 5.227) (蠂 ~ (2) = 5.227) (P = 0.022). OR=2.250,95%CI:1.110~4.561). NPHS2 gene polymorphism had no effect on the expression of podocin protein and renal pathology in sporadic SRNS patients (P0.05). The expression of serum nephrin,podocin protein in sporadic SRNS group was significantly higher than that in control group (P0.05). The level of serum podocin in sporadic SRNS group was significantly different among genotypes of NPHS2 gene 288CTN 954CTN 1038AG (P0.05). Conclusion: 1 the CC genotype of CC,954CT locus at 288CT locus of NPHS2 gene is the risk genotype of sporadic SRNS, and the risk of sporadic SRNS is decreased in female patients with Cn954CT locus Cn1038AG A allele at 288CT locus. 2. The expression of nephrin,podocin protein was found in the renal tissues of sporadic SRNS patients, and the expression of podocin protein was not affected by the polymorphism of NPHS2 gene. 3 the polymorphisms of NPHS2 gene had an effect on serum podocin level in sporadic SRNS patients.
【学位授予单位】：广西医科大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R692

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