A TRPV1 common missense variant affected the prognosis of ischemic cardiomyopathy

Figures

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  Figure 1.. TRP has not association with the risk of ICM. (A) The workflow of the study. The principal component analysis (PCA) of whole-exome sequencing was performed to populations’ construction defined by smart PCA, the result demonstrated the consistency of study (C). Each column represents 1 of the individuals, and each row represents a gene.The genomic landscape of TRP and mutational signatures. The waterfall plot shows the top 14 most commonly mutated genes of TRP in patients with ICM. The bar chart on the left is the gene’s name, and the right is mutation frequency. There is not association between TRP and risk of ICM which listed in D, and left is the gene’s name; right is P-value by using the SKAT-O test compared from 252 cases, and 252 controls (D).

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  Figure 2.. Rs224534 is associated with the prognosis of heart failure in the discovery cohort. (A) Number of target SNPs (MAF > 0.05) found in holistic variants with WES of TRP superfamily. (B) scatter diagram indicators P-value and MAF for common variants of TRP superfamily genes associated with outcomes of heart failure. Rs224534 is the most statistically significant SNP with cox analysis of dominant model vs others. (C) Forest map illuminates significant SNPs with HF in discovery cohort. (D) Linkage map displays rs224534 strong linkage disequilibrium sites of TRPV1.

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  Figure 3.. The association between genotypes of rs224534 and the outcome of HF. Cox analysis was performed to count rs224534 affect prognosis of HF in the dominant model after adjusting risk parameters (gender, age, hypertension, diabetes, hyperlipidemia, and smoking status) and beta-blocker using. Discovery (A), Replication (B), and combine cohort (C) annotate the rs224534 various genotype (red, AG + GG; blue, AA) distribution tendency.

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  Figure 4.. Rs224534 may not affect the expression of TRPV1. The expression level of TRPV1 on protein (A) and mRNA (B) has not differencein ICM failed human cardiac tissue with the genotype of rs224534-AA and AG. rs224534-AA (n = 4), -AG (n = 4), and the consistency of the results in 293T (C,D) which were normalized to GAPDH levels (GAPDH: glyceraldehyde 3-phosphate dehydrogenase). E. TRPV1 transcript levels in peripheral blood lymphocytes were comprised of rs224534-AA (n = 92), -AG (n = 56), and GG (n = 5) allele.