ABSTRACT
Introduction Angiotensin-converting enzyme (ACE) is crucial in the pathogenesis of systemic lupus erythematosus through angiotensin II which regulates vascular tone and endothelial functions. Objectives To study the frequency of ACE insertion/deletion (I/D) gene polymorphism in Egyptian children with systemic lupus erythematosus and its possible relation to the renal pathology in cases with lupus nephritis. Subjects and methods The frequency of ACE gene insertion/deletion polymorphism genotypes was determined in 78 Egyptian children with systemic lupus erythematosus and compared to a matched group of 140 healthy controls using polymerase chain reaction. Results The DD genotype of the ACE gene was higher in systemic lupus erythematosus patients when compared to controls ( P<0.0001; odds ratio (OR) 2.4; 95% confidence interval (CI) 1.7-3.3) and the D allele was more frequent than the I allele in systemic lupus erythematosus patients in comparison to controls ( P < 0.0001; OR = 2.2; 95% CI = (1.6-3.1). In the lupus nephritis group, the DD genotype was significantly higher in those with proliferative lupus nephritis when compared to those with non-proliferative lupus nephritis ( P = 0.02; OR = 1.45; 95% CI = 1.4-1.6). Also, patients with proliferative lupus nephritis showed a higher frequency of the D allele ( P < 0.001; OR = 1.98; 95% CI = 1.3-2.9). Conclusion The D allele and DD genotype of the ACE gene appear to be a risk factor for the susceptibility of systemic lupus erythematosus and occurrence of proliferative nephritis in Egyptian children.
Subject(s)
Genetic Predisposition to Disease , Lupus Erythematosus, Systemic/genetics , Lupus Nephritis/genetics , Peptidyl-Dipeptidase A/genetics , Adolescent , Case-Control Studies , Child , Child, Preschool , Cross-Sectional Studies , Egypt , Female , Gene Deletion , Gene Frequency , Genotype , Humans , Lupus Erythematosus, Systemic/complications , Lupus Nephritis/physiopathology , Male , Mutagenesis, Insertional , Polymerase Chain Reaction , Polymorphism, Genetic , Risk FactorsABSTRACT
Systemic lupus erythematosus (SLE) is a multi-systemic autoimmune disease that involves almost all the organs in the human body and is characterized by auto antibodies formation. Autoimmune thyroid diseases (AITD) are organ-specific diseases that are associated with a production of a variety of antibodies such as antinuclear antibodies, anti-double-stranded DNA, anti-Ro antibodies, anti-cardiolipin antibodies, and others. The diagnosis of AITD in patients with SLE is well known, but the reverse is rarely reported. We present two cases of adolescent girls in whom SLE evolved one year after being diagnosed with hypothyroidism.
