Negi Vir S, Devaraju Panneer, Gulati Reena
Department of Clinical Immunology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, 605 006, India,
Clin Rheumatol. 2015 Sep;34(9):1545-9. doi: 10.1007/s10067-015-2954-6. Epub 2015 May 10.
SLE is a systemic autoimmune disease with high prevalence of hypertension. Around 40-75 % of SLE patients develop nephritis, a major cause of hypertension and mortality. Angiotensin-converting enzyme (ACE) maintains the blood pressure and blood volume homeostasis. An insertion/deletion (I/D) polymorphism in intron 16 of ACE gene was reported to influence the development of hypertension, nephritis, and cardiovascular diseases in different ethnic populations. Despite compelling evidence for the high prevalence of hypertension in individuals with SLE, underlying factors for its development are not well studied. With this background, we analyzed the influence of ACE insertion/deletion polymorphism on susceptibility to SLE, development of nephritis and hypertension, other clinical features and autoantibody phenotype in South Indian SLE patients. Three hundred patients with SLE and 460 age and sex similar ethnicity matched individuals were included as patients and healthy controls, respectively. The ACE gene insertion/deletion polymorphism was analyzed by PCR. Insertion (I) and deletion (D) alleles were observed to be equally distributed among patients (57 and 43 %) and controls (59 and 41 %), respectively. The mutant (D) allele did not confer significant risk for SLE (II vs. ID: p = 0.4, OR 1.15, 95 % CI 0.8-1.6; II vs. DD: p = 0.34, OR 1.22, 95 % CI 0.8-1.85). There was no association of the ACE genotype or the allele with development of lupus nephritis (II vs. ID: p = 0.19, OR 1.41, 95 % CI 0.84-2.36; II vs. DD: p = 0.41, OR 0.74, 95 % CI 0.38-1.41) or hypertension (II vs. ID: p = 0.85, OR 0.9, 95 % CI 0.43-1.8; II vs. DD: p = 0.66, OR 1.217, 95 % CI 0.5-2.8). The presence of mutant allele (D) was not found to influence any clinical features or autoantibody phenotype. The insertion/deletion polymorphism of the ACE gene is not a genetic risk factor for SLE and does not influence development of hypertension or lupus nephritis in South Indian Tamils.
系统性红斑狼疮（SLE）是一种高血压患病率较高的全身性自身免疫性疾病。约40%-75%的SLE患者会发生肾炎，这是高血压和死亡的主要原因。血管紧张素转换酶（ACE）维持血压和血容量的稳态。据报道，ACE基因第16内含子的插入/缺失（I/D）多态性会影响不同种族人群高血压、肾炎和心血管疾病的发生。尽管有确凿证据表明SLE患者中高血压患病率很高，但其发病的潜在因素尚未得到充分研究。在此背景下，我们分析了ACE插入/缺失多态性对印度南部SLE患者患SLE的易感性、肾炎和高血压的发生、其他临床特征以及自身抗体表型的影响。分别纳入300例SLE患者和460例年龄、性别和种族匹配的个体作为患者组和健康对照组。通过聚合酶链反应（PCR）分析ACE基因的插入/缺失多态性。观察到插入（I）和缺失（D）等位基因在患者（分别为57%和43%）和对照组（分别为59%和41%）中分布均等。突变（D）等位基因并未赋予SLE显著风险（II与ID相比：p = 0.4，OR 1.15，95%CI 0.8-1.6；II与DD相比：p = 0.34，OR 1.22，95%CI 0.8-1.85）。ACE基因型或等位基因与狼疮性肾炎的发生无关联（II与ID相比：p = 0.19，OR 1.41，95%CI 0.84-2.36；II与DD相比：p = 0.41，OR 0.74，95%CI 0.38-1.41）或高血压（II与ID相比：p = 0.85，OR 0.9，95%CI 0.43-1.8；II与DD相比：p = 0.66，OR 1.217，95%CI 0.5-2.8）。未发现突变等位基因（D）的存在会影响任何临床特征或自身抗体表型。ACE基因的插入/缺失多态性不是SLE的遗传危险因素，也不影响印度南部泰米尔人高血压或狼疮性肾炎的发生。
