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The Associations between Nucleotide Polymorphisms and Diabetic Retinopathy Risk: An Umbrella Review

SSRN, ISSN: 1556-5068
2023
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  • Usage
    225
    • Abstract Views
      199
    • Downloads
      26

Article Description

Background: To date, numerous studies have investigated the associations between genetic variants and diabetic retinopathy (DR) risk, but evidence of different candidate genes remained inconclusive. This umbrella review was conducted aiming to evaluate the associations between genetic variations and the development of DR comprehensively and quantitatively. Methods: Several electronic databases (PubMed, EMBASE and Cochrane Library of Systematic Reviews) were systematic searched to identify meta-analyses examining associations between single nucleotide polymorphisms (SNPs) mutations and DR from inception to August 2023, with no language restrictions. We evaluated the methodological quality using the A MeaSurement Tool to Assess systematic Reviews (AMSTAR) 2.0, and estimated the summary effect size by using the random effects model and calculated the 95% prediction intervals (PIs). Evidence from included meta-analyses was graded according to established criteria as follows: convincing, highly suggestive, suggestive, weak, or not significant. Study selection, data extraction and appraising the included reviews were conducted by two independent reviewers. Results: This umbrella review finally included 32 meta-analyses of a total of 52 candidate SNPs. The 12 selected meta-analyses were rated as "high" methodological quality, whereas 11 studies were graded as "low" methodological quality; a further 2 studies were rated as "moderate" methodological quality, and the methodological quality of 7 studies was graded as “critically low”. Carriers of specific genotypes and alleles of transcription factor 7-like 2 C/T (TCF7L2 C/T) polymorphism might be more susceptible to the occurrence of DR in the homozygous and recessive models, and these associations were initially supported by convincing evidence. Significant associations were also found between interleukin-6 (IL-6) -174 G/C or vascular endothelial growth factor (VEGF) polymorphisms and DR risk, but these associations were supported by weak evidence. Conclusions: The TCF7L2 C/T variant could be identified as a definitive genetic risk factor for the development and progression of DR. Data from more and better-designed studies are needed to establish robust evidence for the associations between polymorphisms of IL-6 or VEGF and DR.

Bibliographic Details

Shaofen Huang; Pu Wang; Jingrong Yu; Fangfang Zeng; Yonghui Feng; Ying Sun; Xin Su; Shiyun Chen; Jiazi Liu; Ying Xu

Elsevier BV

Multidisciplinary; Nucleotide polymorphisms; Diabetic Retinopathy; SNPs; umbrella review

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