دورية أكاديمية
أعرض في EDS

Association of CIITA (rs8048002) and CLEC2D (rs2114870) gene variants and type 1 diabetes mellitus.

التفاصيل البيبلوغرافية
العنوان: Association of CIITA (rs8048002) and CLEC2D (rs2114870) gene variants and type 1 diabetes mellitus.
المؤلفون: El-Fadeal NMA; Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Suez Canal University, 41522 Ismailia, Egypt.; Department of Biochemistry, Ibn Sina National College for Medical Studies, Jeddah, Saudi Arabia.; Oncology Diagnostic Unit, Faculty of Medicine, Suez Canal University, Ismailia, Egypt.; Center of Excellence in Molecular and Cellular Medicine, Faculty of Medicine, Suez Canal University, Ismailia, Egypt., Saad MA; General Authority of Health Care, Ismailia, Egypt., Mehanna ET; Department of Biochemistry, Faculty of Pharmacy, Suez Canal University, Ismailia, Egypt., Atwa H; Department of Pediatric Medicine, Faculty of Medicine, Suez Canal University, Ismailia, Egypt., Abo-Elmatty DM; Department of Biochemistry, Faculty of Pharmacy, Suez Canal University, Ismailia, Egypt., Hosny N; Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Suez Canal University, 41522 Ismailia, Egypt.; Center of Excellence in Molecular and Cellular Medicine, Faculty of Medicine, Suez Canal University, Ismailia, Egypt.
المصدر: Journal of diabetes and metabolic disorders [J Diabetes Metab Disord] 2024 Apr 18; Vol. 23 (1), pp. 1151-1162. Date of Electronic Publication: 2024 Apr 18 (Print Publication: 2024).
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Springer International Publishing Country of Publication: Switzerland NLM ID: 101590741 Publication Model: eCollection Cited Medium: Print ISSN: 2251-6581 (Print) Linking ISSN: 22516581 NLM ISO Abbreviation: J Diabetes Metab Disord Subsets: PubMed not MEDLINE
أسماء مطبوعة: Publication: 2018- : [Cham] : Springer International Publishing
Original Publication: 2011: Tehran : Tehran University of Medical Sciences, Endocrinology and Metabolism Research Institute
مستخلص: Background: Type I diabetes mellitus (T1DM) is a significant health challenge, especially for children, owing to its chronic autoimmune nature. Although the exact etiology of T1DM remains elusive, the interplay of genetic predisposition, immune responses, and environmental factors are postulated. Genetic factors control immune reactivity against β-cells. Given the pivotal roles of CIITA and CLEC2D genes in modulating a variety of immune pathologies, we hypothesized that genetic variations in CIITA and CLEC2D genes may impact T1DM disease predisposition. This study was designed to explore the association between gene polymorphisms in CIITA (rs8048002) and CLEC2D (rs2114870) and type 1 diabetes (T1DM), with a focus on analyzing the functional consequence of those gene variants.
Methods: The study enlisted 178 healthy controls and 148 individuals with type 1 diabetes (T1DM) from Suez Canal University Hospital. Genotyping for CIITA and CLEC2D was done using allelic-discrimination polymerase chain reaction (PCR). Levels of glycated hemoglobin (HbA1c) and lipid profiles were determined through automated analyzer, while fasting blood glucose and insulin serum levels were measured using the enzyme-linked immunosorbent assay (ELISA) technique. RegulomeDB was used to examine the regulatory functions of CIITA (rs8048002) and CLEC2D (rs2114870) gene variants.
Results: Analysis of the genotype distribution of the CIITA rs8048002 polymorphism revealed a significantly higher prevalence of the rare C allele in T1DM patients compared to the control group (OR = 1.77; P  = 0.001). Both the CIITA rs8048002 heterozygote TC genotype (OR = 1.93; P  = 0.005) and the rare homozygote CC genotype (OR = 3.62; P  = 0.006) were significantly more frequent in children with T1DM when compared to the control group. Conversely, the rare A allele of CLEC2D rs2114870 was found to be significantly less frequent in T1DM children relative to the control group (OR = 0.58; P  = 0.002). The heterozygote GA genotype (OR = 0.61; P  = 0.033) and the rare homozygote AA genotype (OR = 0.25; P  = 0.004) were also significantly less frequent in T1DM patients compared to the control group. Both CIITA (rs8048002) and CLEC2D (rs2114870) gene variants were predicted to have regulatory functions, indicated by a RegulomeDB score of (1f) for each.
Conclusion: The rare C allele of CIITA rs8048002 genetic variant was associated with an increased risk of developing T1DM, while the less common A allele of CLEC2D rs2114870 was associated with a reduced risk of T1DM.
Supplementary Information: The online version contains supplementary material available at 10.1007/s40200-024-01402-w.
Competing Interests: conflicts of interestThe authors declare no conflicts of interest.
(© The Author(s), under exclusive licence to Tehran University of Medical Sciences 2024. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.)
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فهرسة مساهمة: Keywords: CIITA gene (rs8048002); CLEC2D (rs2114870; RegulomeDB; Single nucleotide polymorphisms; T1DM; TaqMan genotyping
تواريخ الأحداث: Date Created: 20240627 Latest Revision: 20240628
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC11196453
DOI: 10.1007/s40200-024-01402-w
PMID: 38932894
قاعدة البيانات: MEDLINE
الوصف
تدمد:2251-6581
DOI:10.1007/s40200-024-01402-w