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Prognostic predictive value of TLR4 polymorphisms in Han Chinese population with hypertrophic cardiomyopathy

Ke Han¹, Yan-Ping Li²

¹Department of Cardiovascular Surgery, Yantai Affiliated Hospital of Binzhou Medical University, Shandong Province, China.

The Kaohsiung Journal of Medical Sciences

|October 13, 2018

Insights

Toll-like receptor-4 (TLR4) gene variations are linked to hypertrophic cardiomyopathy (HCM) risk and prognosis in the Han Chinese population. Specific TLR4 polymorphisms correlate with increased susceptibility and poorer survival outcomes in HCM patients.

Area of Science:

Genetics
Cardiology
Immunology

Background:

Hypertrophic cardiomyopathy (HCM) is a primary genetic heart condition and a significant cause of sudden cardiac death.
The role of genetic factors, specifically Toll-like receptor-4 (TLR4) gene polymorphisms, in HCM development and progression requires further investigation.

Purpose of the Study:

To investigate the association between Toll-like receptor-4 (TLR4) gene polymorphisms and hypertrophic cardiomyopathy (HCM) in a Han Chinese population.
To determine if specific TLR4 polymorphisms influence overall survival (OS) and prognosis in HCM patients.

Main Methods:

A case-control study involving 486 HCM patients and 214 healthy controls.
Genotyping of two TLR4 promoter single nucleotide polymorphisms (SNPs): -728G > C (rs11536865) and -2081G > A (rs10983755) using PCR-RFLP.
Analysis of SNP associations with HCM susceptibility, overall survival (Kaplan-Meier, Cox regression), and serum TLR4 levels (ELISA).

Main Results:

Allelic frequencies of C at -728G > C and A at -2081G > A were significantly higher in HCM patients compared to controls (P < 0.001).
Both TLR4 SNPs were associated with HCM susceptibility (P < 0.01) and overall survival (P < 0.001).
The CC genotype (-728G > C) and AA genotype (-2081G > A) were linked to poor HCM prognosis (P < 0.001). HCM patients exhibited elevated serum TLR4 levels (242.6 pg/ml vs. 135.7 pg/ml, P = 0.027).

Conclusions:

TLR4 gene polymorphisms, specifically -728G > C and -2081G > A, represent a genetic susceptibility factor for HCM in the Han Chinese population.
These polymorphisms are associated with increased risk, poorer prognosis, and elevated serum TLR4 levels in HCM patients.
TLR4 may play a significant role in the pathogenesis and clinical course of hypertrophic cardiomyopathy.

Read full analysis

Abstract:

Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiac disease and is an important cause of sudden death in patients of all ages. The aim of this study was to find out whether Toll-like receptor-4 (TLR4) polymorphism is associated with HCM. To explore the association between TLR4 gene polymorphisms and HCM, 486 HCM patients and 214 healthy controls were enrolled in a case-control study of Chinese Han population. Two single nucleotide polymorphisms (SNPs) in the promoter region of TLR4 gene, -728G > C (rs11536865) and -2081G > A (rs10983755), were genotyped by PCR restriction fragment length polymorphism (PCR-RFLP). The associations between TLR4 SNPs and overall survival (OS) of HCM patients were analyzed by the Kaplan-Meier estimation method and Cox proportional hazards regression analysis. Serum TLR4 level was determined by ELISA. Our results showed that the C allelic frequency of -728G > C and A allelic frequency of -2081G > A were higher in HCM patients than those in controls (P < 0.001). The ratios of genotype frequencies for both SNPs were associated with HCM susceptibility under three genetic models (P < 0.01). Two SNPs were also associated with the OS in HCM patients (P < 0.001). The CC genotype of -728G > C and AA genotype of -2081G > A were associated with poor prognosis of HCM (P < 0.001). Moreover, HCM patients had a higher serum TLR4 level compared with the controls (242.6 pg/ml versus 135.7 pg/ml, P = 0.027). In addition, significant associations were observed between CC genotype of -728G > C or AA genotype of -2081G > A and plasma TLR4 level (P < 0.01). The results of this study indicated that TLR4 polymorphisms may be a genetic susceptibility factor for HCM in the Han Chinese population.

Keywords:

Genotype Hypertrophic cardiomyopathy (HCM)Overall survival (OS)Single nucleotide polymorphism (SNP)Toll-like receptor-4 (TLR4)

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