Coelho Aline Ruilowa de Pinho, Silveira Luciana Carvalho, Santos Kamilla de Faria, Santos Rodrigo da Silva, Reis Angela Adamski da Silva
Laboratory of Molecular Pathology, Biological Sciences Institute, Federal University of Goiás, Goiânia 74690-090, Brazil.
Department of Biochemistry and Molecular Biology, Biological Sciences Institute, Federal University of Goiás, Goiânia 74690-090, Brazil.
J Pers Med. 2023 Aug 26;13(9):1308. doi: 10.3390/jpm13091308.
Diabetic retinopathy (DR) is a complex and multifactorial pathology encompassing environmental, metabolic, and polygenic influences. Among the genes possibly involved in the development and progression of DR, the () gene stands out, which presents an insertion (I) or deletion (D) polymorphism of a 287 bp Alu repetitive sequence in intron 16. Thus, this study aimed to perform a systematic review with meta-analysis to elucidate the relationship between the gene (I/D) polymorphism (rs1799752) and the development and progression of DR in type 2 diabetic patients. PubMed/MEDLINE, Embase, Web of Science, and Scopus databases were systematically searched to retrieve articles that investigated the association between gene (I/D) polymorphism in DR patients. Sixteen articles were included in the systematic review. The results describe no significant association between the polymorphism and DR risk (OR = 1.12; CI = 0.96-1.31; and = 0.1359) for genotypic analysis by the dominant model (II vs. ID+DD). Moreover, we also observed no significant association between the D allele on the allele frequency analysis (I vs. D) and the DR risk (OR = 1.10; CI = 0.98-1.23; and = 0.1182). Forest plot analysis revealed that the discrepancy between previous studies most likely arose from variations in their sample sizes. In conclusion, I/D polymorphism appears to be not involved in the susceptibility to and progression of the DR in type 2 diabetic patients.
糖尿病视网膜病变（DR）是一种复杂的多因素病理状态，涉及环境、代谢和多基因影响。在可能参与DR发生和发展的基因中，（）基因尤为突出，该基因在第16内含子中有一个287 bp Alu重复序列的插入（I）或缺失（D）多态性。因此，本研究旨在进行一项系统评价并荟萃分析，以阐明（）基因（I/D）多态性（rs1799752）与2型糖尿病患者DR发生和发展之间的关系。系统检索了PubMed/MEDLINE、Embase、Web of Science和Scopus数据库，以获取研究DR患者（）基因（I/D）多态性相关性的文章。16篇文章被纳入系统评价。结果显示，在显性模型（II与ID+DD）的基因型分析中，多态性与DR风险之间无显著相关性（OR = 1.12；CI = 0.96 - 1.31；P = 0.1359）。此外，在等位基因频率分析（I与D）中，我们也未观察到D等位基因与DR风险之间存在显著相关性（OR = 1.10；CI = 0.98 - 1.23；P = 0.1182）。森林图分析显示，先前研究之间的差异很可能源于样本量的不同。总之，I/D多态性似乎与2型糖尿病患者DR的易感性和进展无关。
