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Updated: Aug 17, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
[Association between G894T mutation in endothelial nitric oxide synthase gene and premature coronary heart disease]
Chong-qi Jia1, Yan Ning, Tong-tao Liu
1Department of Epidemiology and Health Statistics, School of Public Health, Shandong University, Jinan 250012, China.
Objective:
To assess the association between G894T (Glu298Asp) mutation in exon 7 of the endothelial nitric oxide synthase gene and premature coronary heart disease (P-CHD).
Methods:
Hospital-based case-control study was conducted. Newly-diagnosed CHD patients were recruited as study subjects. 132 CHD patients diagnosed at/before age 55 for males and 65 for females were assigned to P-CHD case group with other 172 CHD patients as the control group. Polymerase chain reaction with Ban II restriction enzyme digestion was performed to detect the G894T mutation.
Results:
G894T mutant genotypes in P-CHD group (TT, GT and GG frequencies were 6.06%, 20.45% and 73.48%, respectively) were significant higher than those in control group (TT, GT and GG frequencies were 1.74%, 11.63% and 86.63%, respectively) (P = 0.01). Mutant T allele frequency in P-CHD group was also significantly higher than that in control group (16.29% versus 7.56%, P = 0.001, OR = 2.38, 95% CI: 1.38 - 4.16). Stepwise multiple logistic regression analysis at 0.05 significant level with sex, smoking, alcohol drinking, and overweight covariates indicated that G894T mutation also having significant effect on P-CHD (P = 0.01, OR = 2.25, 95% CI: 1.19 - 4.26).
Conclusion:
This study suggested that G894T mutation in endothelial nitric oxide synthase gene might serve as a major risk factor to the pathogenesis of P-CHD in this study population.
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