血管内皮生长因子基因变异和单倍型与2型糖尿病视网膜病变易感性相关

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2025-05-14 DOI:10.1016/j.genrep.2025.102258

Nejla Sallami , AmiraTurki , Laila Ben Lamine , Mohamed Ghorbel , Moncef Khairallah , Touhami Mahjoub , Wassim Y. Almawi

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引用次数: 0

摘要

血管内皮生长因子（VEGF）参与2型糖尿病（T2DM）糖尿病视网膜病变（DR）的发病机制，VEGF基因的遗传变异被认为与DR的发生有关。我们评估了VEGFA变异和单倍型与突尼斯T2DM患者DR的关系。方法选取815例T2DM患者，其中无DR (DWR) 307例，伴DR 508例。采用实时PCR对11个VEGFA snp进行基因分型。结果DR患者rs25648的次要等位基因频率（MAF）（12%）显著低于对照组（16%），并与DR风险降低相关(OR [95%CI], 0.71 [0.50-0.99]；p = 0.04)，而rs1570360的MAF显著高于rs1570360。rs3025039（次要）T等位基因也表现出保护作用(OR [95%CI], 0.49 [0.28-0.88]；P = 0.017)， rs833070在基因型水平分析中显著相关。单倍型TACGGTGA (Block-1)(校正OR [95%CI]， 0.58 [0.37-0.92]；p = 0.02)和单倍型CCT (Block-2)(校正OR [95% CI]， 0.51 [0.28-0.92]；p = 0.02)在DR患者中发生率明显降低，提示其具有保护作用。结论本研究证实了VEGFA rs25648和rs3025039 snp以及单倍型TACGGTGA和CCT与DR风险降低相关，提示VEGFA具有保护作用，并强调了VEGFA作为DR遗传风险评估和个性化干预的候选位点。

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Vascular endothelial growth factor gene variants and haplotypes associated with susceptibility to diabetic retinopathy in type 2 diabetes mellitus

Aims

Vascular endothelial growth factor (VEGF) contributes to the pathogenesis of diabetic retinopathy (DR) in type 2 diabetes (T2DM), and genetic variations in the VEGFA gene were suggested to contribute to DR development. We evaluate the association of VEGFA variants and haplotypes with DR in Tunisian patients with T2DM.

Methods

This study was performed on 815 T2DM patients (307 without DR (DWR) and 508 with DR). Genotyping of 11 VEGFA SNPs was done by real-time PCR.

Results

The minor allele frequency (MAF) of rs25648 was significantly lower in DR patients (12 %) than in controls (16 %) and was associated with reduced DR risk (OR [95%CI], 0.71 [0.50–0.99]; p = 0.04), while MAF of rs1570360 was significantly higher. The rs3025039 (minor) T allele also showed a protective effect (OR [95%CI], 0.49 [0.28–0.88]; p = 0.017), and rs833070 was significantly associated in genotype-level analyses. Haplotype TACGGTGA (Block-1) (adjusted OR [95%CI], 0.58 [0.37–0.92]; p = 0.02) and haplotype CCT (Block-2) (adjusted OR [95 % CI], 0.51 [0.28–0.92]; p = 0.02) were significantly less frequent in DR patients, suggesting a protective role.

Conclusion

This study confirms that VEGFA rs25648 and rs3025039 SNPs, and haplotypes TACGGTGA and CCT are associated with reduced DR risk, suggesting a protective role and highlighting VEGFA as a candidate locus for genetic risk assessment and personalized intervention in DR.

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.