Khaiz Youssef, Al Idrissi Najib, Bakkali Mohammed, Ahid Samir
Laboratory of Genomics, Bioinformatics and Digital Health, School of Medicine, Mohammed VI University of Science and Health, Casablanca, Morocco.
Departamento de Genética, Facultad de Ciencias, Universidad de Granada, Fuentenueva S/N, 18071, Granada, Spain.
Curr Diabetes Rev. 2025;21(4):38-46. doi: 10.2174/0115733998275617231218101116.
Type 1 diabetes mellitus (T1D) is a complicated illness marked by the death of insulin- producing pancreatic beta cells, which ultimately leads to insulin insufficiency and hyperglycemia. T lymphocytes are considered to destroy pancreatic beta cells in the etiology of T1D as a result of hereditary and environmental factors. Although the latter factors are very important causes of T1D development, this disease is very genetically predisposed, so there is a significant genetic component to T1D susceptibility. Among the T1D-associated gene mutations, those that affect genes that encode the traditional Human Leukocyte Antigens (HLA) entail the highest risk of T1D development. Accordingly, the results of decades of genetic linkage and association studies clearly demonstrate that mutations in the HLA genes are the most associated mutations with T1D. They can, therefore, be used as biomarkers for prediction strategies and may even prove to be of value for personalized treatments. Other immunity-associated genetic loci are also associated with higher T1D risk. Indeed, T1D is considered an autoimmune disease. Its prevalence is rising globally, especially among children and young people. Given the global rise of, and thus interest in, autoimmune diseases, here we present a short overview of the link between immunity, especially HLA, genes and T1D.
1型糖尿病（T1D）是一种复杂的疾病，其特征是产生胰岛素的胰腺β细胞死亡，最终导致胰岛素分泌不足和高血糖。由于遗传和环境因素，T淋巴细胞被认为在T1D的病因中会破坏胰腺β细胞。尽管后一种因素是T1D发展的非常重要的原因，但这种疾病具有很强的遗传易感性，因此T1D易感性存在显著的遗传成分。在与T1D相关的基因突变中，那些影响编码传统人类白细胞抗原（HLA）基因的突变导致T1D发展的风险最高。因此，数十年的遗传连锁和关联研究结果清楚地表明，HLA基因突变是与T1D最相关的突变。因此，它们可以用作预测策略的生物标志物，甚至可能被证明对个性化治疗有价值。其他与免疫相关的基因位点也与较高的T1D风险相关。事实上，T1D被认为是一种自身免疫性疾病。其全球患病率正在上升，尤其是在儿童和年轻人中。鉴于自身免疫性疾病在全球范围内的增加以及由此产生的关注度，在此我们简要概述免疫，尤其是HLA基因与T1D之间的联系。
