新疆维吾尔族IgA肾病血管紧张素转换酶、血管紧张素原和内皮型一氧化氮合酶基因多态性研究

摘要

目的 探讨血管紧张素转换酶(angiotensin converting enzyme,ACE)、血管紧张素原(angiotensinogen,AGT)、内皮型一氧化氮合酶(endothelial nitricoxide synthase,eNOS)基因多态性与新疆维吾尔族IgA肾病相关性.方法 选择2011年6月至2015年5月在新疆维吾尔自治区人民医院经肾脏病理和生化检测[血白蛋白(serum albumin,Alb)、血肌酐、24 h尿蛋白定量等实验室检查]等综合确诊的45例IgA肾病患者为IgA肾病组;另选择健康体检者45例为健康对照.选取直接测序方法检测ACE I/D、AGT M235T、eNOS G894T位点单核苷酸多态性(single nucleotide polymorphism,SNP).结果 ACE I/D和AGT M235T的基因型和等位基因频率在2组之间分布差异无统计学意义(P＞0.05).IgA肾病组eNOS GG基因型和G等位基因的频率(62.2％,75.6％)高于健康对照组(26.7％,50.0％),差异均有统计学意义(x2=11.520,P=0.001;x2 =12.577,P＜0.0001).ACE DD基因型患者的血肌酐[178.00(101.99,204.24) μmol/L]明显高于ACEⅡ基因型的患者[78.27(64.23,112.78) μmol/L],2种基因型间差异有统计学意义(P=0.018).AGT M235T、eNOSG894T各基因型间血肌酐差异无统计学意义(P＞0.05).ACE DD基因型患者的24 h尿蛋白定量[2.66(1.44,3.87)g]明显高于ACEⅡ基因型患者的[1.31(0.14,2.65)g],2组间差异有统计学意义(P=0.023);AGT M235T、eNOS G894T各基因型间24 h尿蛋白定量差异均无统计学意义(P＞0.05);ACE I/D、AGT M235T和eNOS G894T各基因型间血尿差异均无统计学意义(P＞0.05).结论 ACE/AGT与新疆维吾尔族IgA肾病患者的易感性无关,eNOS基因可能是新疆维吾尔族IgA肾病患者的一个易感因素,ACE基因DD基因型与新疆维吾尔族IgA肾病的进展相关.%Objective To investigate the correlation between single nucleotide polymorphism of angiotensin converting enzyme (ACE),angiotensinogen (AGT) and endothelial nitric oxide synthase (eNOS) with IgA nephropathy.Methods A total of 90 Xinjiang Uygur were enrolled,including 45 cases of IgA nephropathy and 45 healthy controls.Results The frequencies of genotype and allele distribution in ACE I/D and AGT M235T showed no significant difference (P＞0.05) between IgA nephropathy and control groups.The frequencies of eNOS G894T GG genotype and G allele (62.2％ and 75.6％,respectively) in IgA nephropathy group were significantly higher than those in control group (x2 =11.520,P=0.001;x2 =12.577,P＜0.0001,respectively).The serum creatinine in ACE DD genotype [178.00 (101.99,204.24) μmol/L] was significantly higher than that of ACE Ⅱ genotype [78.27 (64.23,112.78) μmol/L] with the difference being statistically significant (P =0.018).The association of AGT M235T/eNOS G894T genotypes and serum creatinine showed no statistically significant difference between the two groups (P＞0.05).24-h proteinuria in ACE DD genotype [2.66 (1.44,3.87) g] was significantly higher than that of ACE genotype Ⅱ [1.31 (0.14,2.65) g] (P =0.023),with no significant differences between AGT M235T and eNOS G894T gene (P＞0.05).Association of ACE I/D,AGT M235T and eNOS G894T genotypes and hematuria showed no statistically significant difference between the two groups (P＞0.05).Conclusions ACE I/D,and AGT M235T genes are irrelevant to the susceptibility of patients with IgA nephropathy in Xinjiang Uygur.eNOS gene may be a risk factor in patients with IgA nephropathy.DD genotype in ACE gene is associated with the progression of IgA nephropathy in Xinjiang Uygur.