Sami Abdul, Javed Ahsan, Ozsahin Dilber Uzun, Ozsahin Ilker, Muhammad Khalid, Waheed Yasir
NUST School of Health Sciences, National University of Sciences and Technology (NUST), H-12 Sector, Islamabad, 44000, Pakistan.
CMH Institute of Medical Science (CIMS), Multan, 60001, Pakistan.
Diabetol Metab Syndr. 2025 Jun 2;17(1):185. doi: 10.1186/s13098-025-01748-y.
Diabetes mellitus (DM) affects hundreds of millions of people worldwide. Genetic research plays a crucial role in managing diabetes by providing valuable insights into genetic predispositions, facilitating early diagnosis, and enabling personalized treatment strategies. Identification of important genetic markers has paved the way for the creation of targeted therapies, enhancing treatment outcomes and promoting preventive care for both type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus (T2DM). The aim of this study is to explore the role of different genes in the development of DM and its related complications.
A comprehensive literature search was conducted from October 27 to November 14, 2024, to enlist articles related to genes involved in development of DM and its complications in search engines including PubMed, Medline, Google Scholar, and Scopus. We included original articles, case-control studies, cohort studies, review articles, systematic review, and meta-analysis published between January 1, 2014, and November 14, 2024 in our study.
In T1DM; research has historically concentrated on the role of HLA class II genes. However, recent studies have brought attention to the role of HLA class I genes in the disease's development, suggesting a broader role of genetics than previously understood. CTLA4, IL2RA, and PTPN22, genes were also significantly linked to T1DM. In T2DM; TCF7L2 was found to be the most potent gene for its development among others genes such as LCAT, APOE, FTO. For gestational diabetes mellitus (GDM), MTNR1B, CDKAL1, and IRS1 genes played an important role.
Genetics played an important role in the understanding of DM. Researchers have identified new genetic loci that can serve as diagnostic markers for DM and its associated compilations such as diabetic kidney disease (DKD), diabetic neuropathy (DN), diabetic retinopathy (DR) and cardiovascular diseases (CVDs). TCF7L2 and HLA class II are the strongest risk factors for T2DM and T1DM, respectively. Understanding the genetics of DM and its complications is essential for improving early detection, enhancing treatment outcomes, and developing targeted therapies for DM patients.
糖尿病（DM）影响着全球数亿人。基因研究通过提供有关遗传易感性的宝贵见解、促进早期诊断以及制定个性化治疗策略，在糖尿病管理中发挥着至关重要的作用。重要基因标记的识别为靶向治疗的创建铺平了道路，改善了1型糖尿病（T1DM）和2型糖尿病（T2DM）的治疗效果并促进了预防保健。本研究的目的是探讨不同基因在糖尿病及其相关并发症发生发展中的作用。
于2024年10月27日至11月14日进行了全面的文献检索，以在包括PubMed、Medline、谷歌学术和Scopus在内的搜索引擎中查找与参与糖尿病及其并发症发生发展的基因相关的文章。我们纳入了2014年1月1日至2024年11月14日期间发表的原创文章、病例对照研究、队列研究、综述文章、系统评价和荟萃分析。
在T1DM中，历史研究主要集中于HLA II类基因的作用。然而，最近的研究使人们关注到HLA I类基因在该疾病发生发展中的作用，表明遗传学的作用比以前所理解的更为广泛。CTLA4、IL2RA和PTPN22基因也与T1DM显著相关。在T2DM中，发现TCF7L2是其发生发展中比其他基因（如LCAT、APOE、FTO）更具影响力的基因。对于妊娠期糖尿病（GDM），MTNR1B、CDKAL1和IRS1基因发挥了重要作用。
遗传学在糖尿病的认识中发挥了重要作用。研究人员已经确定了新的基因位点，这些位点可作为糖尿病及其相关并发症（如糖尿病肾病（DKD）、糖尿病神经病变（DN）、糖尿病视网膜病变（DR）和心血管疾病（CVDs））的诊断标志物。TCF7L2和HLA II类分别是T2DM和T1DM最强的危险因素。了解糖尿病及其并发症的遗传学对于改善早期检测、提高治疗效果以及为糖尿病患者开发靶向治疗至关重要。
