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. 2024 Jul 24;4(6):59.
doi: 10.3892/mi.2024.183. eCollection 2024 Nov-Dec.

Association between polymorphisms of DNA repair genes and intracranial aneurysms: A systematic review and meta‑analysis

Mohamed M Montasr  1 , George Fotakopoulos  1 , Vasiliki Epameinondas Georgakopoulou  2 , Ourania Fotakopoulou  3 , Nikolaos Trakas  4 , Pagona Sklapani  4 , Kostas N Fountas  1
Affiliations

Association between polymorphisms of DNA repair genes and intracranial aneurysms: A systematic review and meta‑analysis

Mohamed M Montasr et al. Med Int (Lond). .

Abstract

Intracranial aneurysms (IAs) are present in ~2% of the general population, and genetic factors cannot be excluded for the risk of their development. The gene factors that result in the changes in the vascular extracellular matrix (ECM) may also be a key reason for IAs being hereditary. The VCAN gene [also known as chondroitin sulfate proteoglycan 2 (CSPG2)] plays various roles in maintaining ECM functions. The present systematic review and meta-analysis aimed to investigate all eligible articles involving IAs on the association with germ line SNPs of DNA repair genes (up to January, 2024). The total number of patients was 2,308 [987 cases (poor outcomes) and 1,321 controls (good outcomes)]. The results revealed that rs2287926 G/G genotype and G allele and rs251124 T/T genotype and minor allele T increased the risk of developing IAs. However, further studies are required to examine these gene polymorphisms as screening markers for IAs.

Keywords: aneurysms; chondroitin sulfate proteoglycan 2 gene; gene associations; intracranial aneurysms; single nucleotide polymorphisms.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Figure 1
Figure 1
Flowchart of the study selection process.
Figure 2
Figure 2
(A) Forest plot for CSPG2-rs188703. The results demonstrate no statistically significant difference between patients with intracranial aneurysms (cases with poor outcomes) and the controls (OR, 1.08; 95% CI, 0.86-1.35; P=0.51), and without heterogeneity (P=0.70 and I2=0%). (B) Funnel plots of the CSPG2-rs188703 with no heterogeneity (P=0.70 and I2=0%) and thus, no publication bias. CSPG2, chondroitin sulfate proteoglycan 2; I2, the percentage of total variation across studies that is due to heterogeneity rather than chance; CI, confidence interval; P, P-value; OR, odds ratio.
Figure 3
Figure 3
(A) Forest plot for CSPG2-rs2287926. The results demonstrate a statistically significant difference between patients with intracranial aneurysms (cases with poor outcomes) and the controls (OR, 1.37; 95% CI, 0.99-1.91; P=0.0500), and with low heterogeneity (P=0.18 and I2=45%). (B) Funnel plots of the CSPG2-rs2287926 with low heterogeneity (P=0.18 and I2=45%) and thus, low publication bias. CSPG2, chondroitin sulfate proteoglycan 2; I2, the percentage of total variation across studies that is due to heterogeneity rather than chance; CI, confidence interval; P, P-value; OR, odds ratio.
Figure 4
Figure 4
(A) Forest plot for CSPG2-rs251124. The results demonstrate a statistically significant difference between patients with intracranial aneurysms (cases with poor outcomes) and the controls (OR, 1.34; 95% CI, 1.05-1.70; and P=0.02), and with no heterogeneity (P=0.48 and I2=0%). (B) Funnel plots of the CSPG2-rs251124 with no heterogeneity (P=0.48 and I2=0%) and thus, no publication bias. CSPG2, chondroitin sulfate proteoglycan 2; I2, the percentage of total variation across studies that is due to heterogeneity rather than chance; CI, confidence interval; P, P-value; OR, odds ratio.
Figure 5
Figure 5
(A) Forest plot for CSPG2-rs173686. The results demonstrate no statistically significant difference between patients with intracranial aneurysms (cases with poor outcomes) and the controls [OR, -0.00; 95% CI, (-0.04)-0.04; P=0.93], and with low heterogeneity (P=0.19 and I2=36%). (B) Funnel plots of the CSPG2-rs173686 with low heterogeneity (P=0.19 and I2=36%) and thus, low publication bias. CSPG2, chondroitin sulfate proteoglycan 2; I2, the percentage of total variation across studies that is due to heterogeneity rather than chance; CI, confidence interval; P, P-value; OR, odds ratio.
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