Association study of ACE polymorphisms and systemic lupus erythematosus in Northern Chinese Han population

Abstract

Systemic lupus erythematosus (SLE) is an autoimmune disease, with multiple genetic and environmental factors involving in its etiology. Angiotensin converting enzyme (ACE) gene was reported to have important roles in the development and progression of SLE. In this study, a case-control study was carried out to investigate the effects of seven SNPs and I/D in ACE gene in the development of SLE in Northern China. Seven SNPs including A5466C, T3892C, A240T, C1237T, G2215A, A2350G and C3409T were genotyped by PCR-RFLP method, and I/D was examined by agarose gel electrophoresis followed PCR directly. 314 SLE patients were compared to 320 normal controls in the study. Data were analyzed by SPSS 13.0 and HaploView software. The frequency distribution of SNP A2350G and Alu I/D and five haplotypes (AAAACCCI, AGAACCTD, AAAATCTI, TAAATTTI and TAAATCTI) were demonstrated to be different between case and control groups significantly. Whereas other SNPs and haplotypes had no differences in two cohorts. The results revealed that variations of ACE gene had association with SLE, which indicated ACE gene may play an important role in pathogenesis of SLE in Northern Chinese Han population.

Association between genetic polymorphisms of ACE & eNOS and diabetic nephropathy

“…The SNP has been investigated to have an association with hypertension in Pakistani and Gulf populations [32,33]. In addition, significant association of A2350G was also observed with chronic kidney disease (CKD) in Taiwanese and SLE in Northern Chinese Han [10,34]. The findings indicated the SNP could be served as the regulator to the blood pressure, and thus leading to the renal complications, such as diabetic nephropathy.…”

“…The locations of the SNPs, sequence data and other details may be obtained through the NCBI databases (http://www.ncbi.nlm.nih.gov). The information of SNPs, including primer sequences, restriction enzymes, length of amplification and digested fragments were described before [10,13].…”

“…There are some abnomalities of RAS, including the impaired sensitivity of angiotensin II, aldosterone-renin ratio and increased concentration of angiotensin converting enzyme (ACE) in type 2 diabetes [9]. ACE converts angiotensin I into angiotensin II, and catalyzes the bradykinin to kinin degradation products in RAS [10]. Angioten II is a powerful vasoconstrictor and intra-renal effects of the RAS include changes in renal hemodynamics, such as an increase in intra-glomerular pressure as well as direct stimulation of mesangial cell proliferation and matrix production [2,11,12].…”

“…Angioten II is a powerful vasoconstrictor and intra-renal effects of the RAS include changes in renal hemodynamics, such as an increase in intra-glomerular pressure as well as direct stimulation of mesangial cell proliferation and matrix production [2,11,12]. Many studies have suggested that several SNPs (A240T, A2350G, A5466C, A2215G, T3892C, C1237T and C3409) of ACE gene may affect the risk of certain autoimmune and nephropathy diseases such as IgA nephropathy, systemic lupus erythematosus, lupus nephropathy and DN in different populations [10,13,14]. Thus, we presume these SNPs of ACE gene may also play important role in the molecular mechanisms of diabetic nephropathy in Chinese Han population.…”

Angiotensin-converting enzyme insertion/deletion gene polymorphism is associated with dermatomyositis

“…Moreover, the ACE gene polymorphism had been described in various systemic autoimmune diseases, such as juvenile rheumatoid arthritis, 7 systemic lupus erythematosus, [9][10][11][12]24,25 rheumatoid arthritis, 8,26 spondylarthritis. 27,28 and systemic sclerosis.…”