Angiotensin II type 1 receptor gene polymorphism and serum angiotensin-converting enzyme level in Egyptian children with systemic lupus erythematosus

• Published in: Clinical rheumatology Vol. 37; no. 12; pp. 3309 - 3317
• Main Authors: Shoaib, Rasha Mohamed Saleh, Hammad, Ayman, Yahia, Sohier, Elsaid, Afaf, Abdel-Malak, Camelia Adly
• Format: Journal Article
• Language: English
• Published: London Springer London 01.12.2018; Springer Nature B.V
• Subjects: Adolescent; Alleles; Angiotensin; Angiotensin II; Child; Child, Preschool; Children; Cross-Sectional Studies; Egypt - epidemiology; Enzyme-linked immunosorbent assay; Female; Gene Frequency; Gene polymorphism; Genetic Predisposition to Disease; Genotype; Genotyping; Humans; Lupus; Lupus Erythematosus, Systemic - blood; Lupus Erythematosus, Systemic - genetics; Lupus nephritis; Lupus Nephritis - blood; Lupus Nephritis - genetics; Male; Medicine; Medicine & Public Health; Nephritis; Original Article; Peptidyl-dipeptidase A; Peptidyl-Dipeptidase A - blood; Polymerase chain reaction; Polymorphism; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length; Receptor, Angiotensin, Type 1 - genetics; Renin; Restriction fragment length polymorphism; Rheumatology; Systemic lupus erythematosus; Egypt; Serum ACE level; Systemic lupus erythematosus; Egyptian children; AT1R gene polymorphism
• ISSN: 0770-3198; 1434-9949
• DOI: 10.1007/s10067-018-4255-3

Angiotensin II, the major effective molecule of the renin-angiotensin system, plays a vital role in the development of systemic lupus erythematosus (SLE). To study angiotensin II type 1 receptor (AT1R) gene polymorphism at (A1166C) in Egyptian children with SLE and its correlation with serum ACE level and SLE manifestations. AT1R gene polymorphism (A1166C) was done in 123 children with SLE in comparison to 100 healthy controls using polymerase chain reaction-based restriction fragment length polymorphism method (PCR-RFLP) and the tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) to confirm the results of the genotyping. Serum ACE level measurement was done using ELISA technique. The frequencies of C-containing genotypes (AC + CC) and C-allele of AT1R (A1166C) were significantly higher in SLE patients compared to controls ( p  < 0.0001, OR = 4.9, 95% CI = 2.7–8.8; p  ˂ 0.0001, OR = 3.6, 95% CI = 2.2–5.9, respectively). Lupus nephritis (LN) patients had significantly higher frequency of (AC + CC) genotypes and C-allele compared with controls ( p  ˂ 0.0001, OR = 5.1, 95% CI = 2.7–9.7; p  ˂ 0.0001, OR = 3.5, 95% CI = 2.1–6.02, respectively). Mean serum ACE levels were significantly higher in SLE patients compared to controls ( p  ˂ 0.0001). There were no associations between AT1R gene polymorphism and serum ACE level and the clinical manifestations of SLE. The AT1R gene polymorphism can be considered a risk factor for the development of SLE in Egyptian children.