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Review
. 2023 Feb 21;10(3):91.
doi: 10.3390/jcdd10030091.

Association between Genetic Variants of CELSR2-PSRC1-SORT1 and Cardiovascular Diseases: A Systematic Review and Meta-Analysis

Rosa Giannina Castillo-Avila  1 , Thelma Beatriz González-Castro  2 , Carlos Alfonso Tovilla-Zárate  3 , José Jaime Martínez-Magaña  4 , María Lilia López-Narváez  5 , Isela Esther Juárez-Rojop  1 , Pedro Iván Arias-Vázquez  3 , Verónica Marusa Borgonio-Cuadra  6 , Nonanzit Pérez-Hernández  7 , José Manuel Rodríguez-Pérez  7
Affiliations
Review

Association between Genetic Variants of CELSR2-PSRC1-SORT1 and Cardiovascular Diseases: A Systematic Review and Meta-Analysis

Rosa Giannina Castillo-Avila et al. J Cardiovasc Dev Dis. .

Abstract

A cluster of three genes CELSR2, PSRC1, and SORT1 has been associated with cardiovascular diseases. Thus, the aim of this study was (i) to perform a systematic review and updated meta-analysis of the association of three polymorphisms (rs646776, rs599839, and rs464218) of this cluster with cardiovascular diseases, and (ii) to explore by PheWAS signals of the three SNPs in cardiovascular diseases and to evaluate the effect of rs599839 with tissue expression by in silico tools. Three electronic databases were searched to identify eligible studies. The meta-analysis showed that the rs599839 (allelic OR 1.19, 95% CI 1.13-1.26, dominant OR 1.22, 95% CI 1.06-1.39, recessive OR 1.23, 95% CI 1.15-1.32), rs646776 (allelic OR 1.46, 95% CI 1.17-1.82) polymorphisms showed an increased risk for cardiovascular diseases. PheWas analysis showed associations with coronary artery disease and total cholesterol. Our results suggest a possible involvement of the CELSR2-PSRC1-SORT1 cluster variants in the risk association of cardiovascular diseases, particularly coronary artery disease.

Keywords: CELSR2; PSRC1; SORT1; cardiovascular diseases; meta-analysis.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Flow chart showing study inclusion and exclusion details.
Figure 2
Figure 2
Previous associations of rs599839 with related phenotypes. (a) p-values for the prior association of rs599839 with coronary artery disease (CAD), total cholesterol, and LDL cholesterol obtained from the PheWAS atlas. (b) NES value for the rs599839 on the transcripts liver expression of the genes included on the cluster of CELSR2-PSRC1-SORT1. NES is the normalized effect size, which is the slope of the linear regression of the alternative compared to the reference allele.
See this image and copyright information in PMC

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