NPHS1、NPHS2基因多態(tài)性與桂西地區(qū)壯族散發(fā)性激素耐藥型腎病綜合征發(fā)病的相關(guān)性研究
發(fā)布時間：2018-11-16 09:46
【摘要】：目的：探討NPHS1、NPHS2基因與桂西地區(qū)壯族散發(fā)性激素耐藥型腎病綜合征（SRNS）的關(guān)聯(lián)，以及對nephrin、podocin蛋白水平和血清水平的影響。 方法：采用聚合酶鏈式反應(yīng)（PCR）和DNA測序方法檢測桂西地區(qū)壯族無血緣關(guān)系的50例健康體檢人群和50例散發(fā)性SRNS患者的NPHS1、NPHS2基因多態(tài)性。使用酶聯(lián)免疫吸附試驗（ELISA）檢測nephrin、podocin血清水平，采用免疫組化法檢測部分患者腎組織中nephrin、podocin蛋白的表達情況，分析其與NPHS1、NPHS2基因多態(tài)性的相關(guān)性。 結(jié)果：散發(fā)性SRNS組和對照組NPHS2基因288CT位點多態(tài)性，在男女性別之間比較，當攜帶CC基因型、C等位基因時，其男女性別之間的分布有差異，呈正相關(guān)（分別為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位點，在男女性別之間比較，攜帶C等位基因時，其分布有差異，呈正相關(guān)（為χ2=5.682，P=0.017；OR=2.377，95%CI：1.151～4.909）；1038AG位點，在男女性別之間比較，攜帶A等位基因時，其分布有差異，呈正相關(guān)（為χ2=5.227，P=0.022；OR=2.250，95%CI：1.110～4.561）。NPHS2基因多態(tài)性對散發(fā)性SRNS患者腎組織podocin蛋白表達和腎臟病理無影響，差異無統(tǒng)計學(xué)意義（P0.05）。散發(fā)性SRNS組血清nephrin、podocin蛋白表達水平均高于對照組，差異有統(tǒng)計學(xué)意義（P0.05）；散發(fā)性SRNS組中NPHS2基因288CT、954CT、1038AG位點基因型間血清podocin水平比較，差異有統(tǒng)計學(xué)意義（P0.05）。 結(jié)論： 1、NPHS2基因288CT位點CC、954CT位點CC基因型是散發(fā)性SRNS的風(fēng)險基因型，288CT位點C、954CT位點C、1038AG位點A等位基因的女性患者發(fā)生散發(fā)性SRNS的風(fēng)險降低。 2、散發(fā)性SRNS患者腎組織存在nephrin、podocin蛋白表達，NPHS2基因多態(tài)性對腎組織podocin蛋白表達、腎臟病理無影響。 3、NPHS2基因多態(tài)性對散發(fā)性SRNS患者血清podocin水平有影響。
[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.
【學(xué)位授予單位】：廣西醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2014
【分類號】：R692
本文編號：2335172
[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.
【學(xué)位授予單位】：廣西醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2014
【分類號】：R692
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