Association of CTLA-4 exon 1(+49 A/G) polymorphism and susceptibility to SLE in Egyptian children and adolescents.
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Arab Faika, Saleh Sarah A, Ibrahim Dina M, Barakat Amany N, Yousef Aly A, Abdulhay Mohamed, Haridi Mohammed K, Al-Fahham Marwa M, Selim Dalia M, Ismail Ahmed H, Younis Mohammed M S, Soliman Attia A, Shehata Hassan, Ashraf Bassem, Nabil Rehab M, Abdelnaser Mostafa M, AbdelKareem Mohammed Z, Afify Mona R, Bakhsh Wesam K, Alkashgari Hossam R, Almoraie Laila M, Shalabi Maher S, Khazindar Abdullah R, Bawazir Yasser, Mustafa Mohammad, Daghistani Yassir, Alomari Reem A, Balkhair Abrar A, Alhusaini Wejdan Ibrahim, Abdel Raouf Batoul M, Elmikaty Hani A, Taha Sherif, El-Gaaly Sonya A A, Ayad Ayman S A M, Abdalla Hytham, Sayed Mohamed Elwan, Shoaeir Mohamed Z, Abass Awad S, Abdel-Aziz Tarek M, Emam Ahmed A
Аннотация
BackgroundRecently, Cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) gene has emerged as an attractive candidate gene implicated in susceptibility to autoimmune disease such as Juvenile-onset SLE (JSLE).ObjectiveTo investigate CTLA-4 exon 1 + 49A/G (rs231775) SNP as a genetic marker for susceptibility to JSLE and lupus nephritis in Egyptian children and adolescents.MethodsThis prospective case-control study included 260 patients diagnosed with Juvenile-onset SLE, and 260 healthy controls. We genotyped all participants for CTLA-4 (A/G) (rs231775) SNP located in exon 1 at position 49 by polymerase chain reaction.ResultsThe CTLA-4 exon 1 + 49G/G gene variant and G allele were significantly more represented in JSLE patients than healthy controls (27% vs 8%; ORs = 4.2; [95% CI: 2.4 - 7.3]; for the G/G genotype) and (47.5% vs 35%; ORs: 1.7; [95% CIs: 1.3 - 2.2]; for G allele); P < .01. The CTLA-4 G/G genotype and G allele were identified as possible risk factors for development of lupus nephritis (for G/G genotype; ORs: 5.09; [95% CIs: 1.7 - 13.9]; P = .0001, and for G-allele; ORs: 2.4; [95% CIs: 1.5 - 3.78]; P = .004).ConclusionThe CTLA-4 exon 1 + 49A/G polymorphism may confer susceptibility to Juvenile-onset SLE. Moreover, CTLA-4 G/G genotype and G allele at exon 1 + 49 may constitute independent risk factors for development of lupus nephritis in Egyptian children and adolescents.