title: Angiotensin-converting enzyme insertion/deletion gene polymorphism in Egyptian children with systemic lupus erythematosus: a possible relation to proliferative nephritis.
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.
authors.affiliation: 1 Pediatric Nephrology Unit, Department of Pediatrics, Faculty of Medicine, Mansoura University, Egypt.
authors.forename: A
authors.initials: A
authors.lastname: Hammad
authors.affiliation: 2 Pediatric Genetics Unit, Department of Pediatrics, Faculty of Medicine, Mansoura University, Egypt.
authors.forename: S
authors.initials: S
authors.lastname: Yahia
authors.affiliation: 3 Pediatric Endocrinology Unit, Department of Pediatrics, Faculty of Medicine, Mansoura University, Egypt.
authors.forename: W
authors.initials: W
authors.lastname: Laimon
authors.affiliation: 4 Urology and Nephrology Center, Mansoura University, Egypt.
authors.forename: S M
authors.initials: SM
authors.lastname: Hamed
authors.affiliation: 5 Department of Pediatrics, Faculty of Medicine, Mansoura University, Egypt.
authors.forename: A
authors.initials: A
authors.lastname: Shouma
authors.affiliation: 3 Pediatric Endocrinology Unit, Department of Pediatrics, Faculty of Medicine, Mansoura University, Egypt.
authors.forename: N M
authors.initials: NM
authors.lastname: Shalaby
authors.affiliation: 2 Pediatric Genetics Unit, Department of Pediatrics, Faculty of Medicine, Mansoura University, Egypt.
authors.forename: D
authors.initials: D
authors.lastname: Abdel-Hady
authors.affiliation: 6 Faculty of Dental and Oral Medicine, Delta University for Science and Technology, Gamasa, Egypt.
authors.forename: R
authors.initials: R
authors.lastname: Ghanem
authors.affiliation: 7 Department of Clinical Pathology, Faculty of Medicine, Mansoura University, Egypt.
authors.forename: R M
authors.initials: RM
authors.lastname: El-Farahaty
authors.affiliation: 8 Department of Rheumatology and Rehabilitation, Faculty of Medicine, Mansoura University, Egypt.
authors.forename: S R
authors.initials: SR
authors.lastname: El-Bassiony
authors.affiliation: 8 Department of Rheumatology and Rehabilitation, Faculty of Medicine, Mansoura University, Egypt.
authors.forename: E M
authors.initials: EM
authors.lastname: Hammad
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D004534:Egypt; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000150:complications / Q000235:genetics*; D008181:Lupus Nephritis / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D016254:Mutagenesis, Insertional; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012307:Risk Factors
chemical_list: C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A
keywords: ACE I/D gene polymorphism; Egyptian children; Systemic lupus erythematosus; lupus nephritis