Lack of association of CTLA-4 +49 A/G polymorphism with predisposition to type 1 diabetes in a cohort of Egyptian families

Kamel, Azza M.; Mira, Marwa F; Mossallam, Ghada I.; Ebid, Gamal; Radwan, Eman R.; El-Din, Nelly H. Aly; Mamdouh, Mona; Amin, Maha M; Badawy, Nora; Bazaraa, Hafez; Ibrahim, Asmaa; Salah, Nermine

doi:10.1016/j.ejmhg.2013.09.002

Cited by 10 publications

(8 citation statements)

References 44 publications

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“…This may be due to the haplotype nature of human genome among varied populations. However, the authors have found that the four SNPs contribute to the altered expression of sCTLA-4 mRNA and subsequently its protein expression [33][34][35]. Thus, our study is in agreement with the above studies and have shown that there is no difference in the expression of sCTLA-4 in both diabetic and control groups.…”

Section: Discussionsupporting

confidence: 93%

Serum sCTLA-4 level is not associated with type 1 diabetes or the coexistence of autoantibodies in children and adolescent patients from the southern region of Saudi Arabia

Al‐Hakami

2020

Autoimmun Highlights

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Background The soluble form of CTLA-4 (sCTLA-4) is associated with several autoimmune diseases. The aim of the study is to measure the serum sCTLA-4 levels in type I diabetic (T1DM) patients and to assess the presence of autoantibodies for a possible association. Methods One hundred forty-two T1DM patients were enrolled in the study. Fifty of them were serologically positive for co-existing autoantibodies. One hundred and five subjects were enrolled in the study, as non-diabetic controls (1–17 years of age; median age—10 years). The serum samples of all the subjects were analyzed with ELISA to detect the concentration of sCTLA-4 and anti-GAD/IA2 IgG. Standard statistical analysis was conducted as required. Results Ninety-four (66%) subjects of T1DM patients and five (4.7%) subjects of the non-diabetic group had antibodies positive for anti-GAD/IA2. Serum sCTLA-4 was low in most of the subjects of both the diabetic and control groups (p = 0.18). In the control group, nine individuals (8.6%) were positive for sCTLA-4. Similarly, only seven patients (4.9%) in the T1DM group had high levels of sCTLA-4, of which two were found to be double positive for anti-thyroid peroxidase and anti-thyroglobulin antibodies. In addition, among the T1DM patients, no significant relationships were observed between sCTLA-4 levels and age of onset (p = 0.43), disease duration (p = 0.09), or glycemic control (p = 0.32). Conclusion Despite the previous findings of high sCTLA-4 levels in autoimmune diseases, serum levels of sCTLA-4 are not significantly different between T1DM patients and non-diabetic adolescents. Furthermore, we did not observe any association with autoantibody presence, glycemic control, or disease duration.

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Section: Discussionsupporting

confidence: 93%

Serum sCTLA-4 level is not associated with type 1 diabetes or the coexistence of autoantibodies in children and adolescent patients from the southern region of Saudi Arabia

Al‐Hakami

2020

Autoimmun Highlights

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“…In contrast, another studis by Egyptian (Kamel et al, 2014) and Japanese (Yanagawa et al, 1999) T1D patients demonstrated no significant association with alleles or genotypes of CTLA-4 +49 polymorphism. Also an Iraqi study show the association of AG genotype with TID but did not show the GG genotype as a protective factor (21).…”

Section: Resultsmentioning

confidence: 75%

Association of Genetic Polymorphisms in a Sample of Iraqi Patients with Type1 Diabetes mellitus

Kandala¹,

Abdulridha²

2016

Int.J.Curr.Microbiol.App.Sci

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“…10 Similarly, a cohort study in several families in Egypt also found no association between CTLA-4 +49 A/G polymorphism genes and the incidence of T1DM. [11][12][13] A previous study concluded that the CTLA-4 +49 A/G gene polymorphism was selective for Caucasian race. 13 Studies in Korea, Turkey, Portugal, Chile, and Azerbaijan also found no evidence of a relationship.…”

Section: Discussionmentioning

confidence: 99%

Polymorphisms associated with type 1 diabetes mellitus

Jaya

Zettyana²,

Bakri

et al. 2018

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Background Type 1 diabetes mellitus (T1DM) is an organ-specific autoimmune disease characterized by T cell-mediated destruction of pancreatic islets. The genetic factors involved consist of at least five vulnerability genes: HLA, INS, CTLA-4, PTPN22, and IL2RA/CD25. Objective To investigate for associations of PTPN22-1123 G>C SNP and CTLA-4 +49A/G polymorphisms with T1DM. Methods Case and control groups underwent CTLA-4 +49A/G gene examination from June to December 2017, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Results The study population consisted of 30 T1DM patients and 30 healthy subjects with no family history of diabetes or autoimmune diseases. With regards to the PTPN22-1123 G>C SNP, significantly more subjects with T1DM had the GC genotype than the GG genotype (OR 7.64; 95%CI 1.48 to 39.29; P=0.007). For the CTLA-4 +49A/G polymorphism, although the total number of G alleles in the case group was more than that of the control group (OR 2.286; 95%CI 0.804 to 6.945; P=0.118), there were no significant relationships between the frequency of G alleles (P=0.248) and genotypes GG or AG (P=0.293) with the incidence of T1DM. However, the PTPN22-1123 G>C SNP had a significantly positive association with T1DM, and may be considered as a risk factor for T1DM. In contrast, the CTLA-4 +49A/G polymorphism was not recognized as a risk susceptibility factor for T1DM. Conclusion These study confirms an association between PTPN22-1123 G>C SNP and T1DM, but no significant association between CTLA-4 +49A/G polymorphism and T1DM.

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Lack of association of CTLA-4 +49 A/G polymorphism with predisposition to type 1 diabetes in a cohort of Egyptian families

Cited by 10 publications

References 44 publications

Serum sCTLA-4 level is not associated with type 1 diabetes or the coexistence of autoantibodies in children and adolescent patients from the southern region of Saudi Arabia

Serum sCTLA-4 level is not associated with type 1 diabetes or the coexistence of autoantibodies in children and adolescent patients from the southern region of Saudi Arabia

Association of Genetic Polymorphisms in a Sample of Iraqi Patients with Type1 Diabetes mellitus

Polymorphisms associated with type 1 diabetes mellitus

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