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Updated: Sep 3, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A TRPV1 common missense variant affected the prognosis of ischemic cardiomyopathy
Shiyang Li1, Lei Xiao2,3, Yang Sun2,3
1Division of Cardiology, Panzhihua Central Hospital, Panzhihua, China.
Abstract:
The purpose was to identify the Transient receptor potential (TRP) superfamily gene variants associate with the prognosis of ischemic cardiomyopathy (ICM). A whole-exome sequencing study involving 252 ICM and 252 healthy controls participants enrolled from March 2003 to November 2017. Optimal sequence kernel association test and Cox regression dominant was conducted to identify the cause genes of TRP with ICM and association of common SNPs with prognosis of ICM. Rs224534 was verified in the replication population. Besides, the expression of TRPV1 was detectable in human failed heart ventricular tissues. The TRPs was not associated with the risk of ICM (P > .05). Rs224534 was significantly associated with the prognosis of ICM (Hazard ratio, 2.27, 95%CI: 1.31-3.94; P = 3.7 × 10-3), in the replication cohort, (hazard ratio 1.47, 95%CI: 1.04-2.07; P = 2.9 × 10-2), and in combined cohort hazard ratio 1.62 (95%CI: 1.21-2.18; P = 1.1 × 10-3). The common SNP of TRPV1 (rs224534) is associated with the prognosis of ICM, and homozygote rs224534-AA showed an unfavorable prognosis of ICM in the dominant model tested. Genotyping the variant may benefit to further progress judgment of ICM.
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