ACE基因I/D多态性与原发肾小球疾病及SLE肾脏病变关系的研究

目的：探讨血管紧张素转换酶（ＡＣＥ）基因Ｉ／Ｄ多态性与系统性红斑狼疮（ＳＬＥ）肾脏易感性、原发肾小球疾病的关系。方法：用ＰＣＲ法和比色法分别测定ＳＬＥ５８例，原发性肾小球疾病２１例和正常对照４０例的ＡＣＥ基因型和血清ＡＣＥ活性，结合相应的临床资料进行分析。结果：ＡＣＥ基因ＤＤ型和Ｄ等位基因分布频率ＳＬＥ组明显高于正常对照组，临床有肾脏受累表现的ＳＬＥ组明显高于临床无肾脏受累表现的ＳＬＥ组。ＳＬＥ携有Ｄ等位基因且临床有肾脏受累表现组血清ＡＣＥ活性明显高于正常对照组。原发肾小球疾病组ＡＣＥ基因型和ＡＣＥ活性与正常对照组差别不显著。结论：ＡＣＥ基因的Ｄ等位基因可能是ＳＬＥ肾脏易感性的一个危险因子，其在临床有肾脏受累表现的ＳＬＥ病人中对ＡＣＥ基因的表达起明显激活作用。ＡＣＥ基因型和ＡＣＥ活性水平可作为推测ＳＬＥ肾脏易感性的参考指标。

The Relationship Between ACE Gene I/D Polymorphism and Primary Glomeruli Disease, SLE Renal Lesion

Objective:Our aim was to investigate the relationship between the insertion/deletion (I/D) polymorphism of angiotensin converting enzyme (ACE) gene and renal predisposition of systemic lupus erythematosus (SLE), primary glomeruli disease.Methods:PCR and spectrophotometric assay method were used to determine ACE genotype and serum ACE activity of 58 SLE patients, 21 primary glomeruli disease patients, and 40 normal controls. Results:SLE had higher frequency of ACE DD genotype and D allele than that of normal controls, SLE group with clinical renal lesion also had higher frequency of ACE DD genotype and D allele than the SLE group without clinical renal lesion. SLE patients with D allele and clinical renal lesion had higher serum ACE activity than normal controls. There was no significant difference of ACE genotype and ACE activity between primary glomeruli disease and normal controls.Conclusion: The D allele of ACE gene polymorphism was a possible susceptible factor of renal lesion for SLE patients. Examing ACE genotype and serum ACE activity might be useful to predict renal predisposition in SLE patients.