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Single nucleotide polymorphisms in promoter of angiotensin II type 1 receptor gene associated with essential hypertension and coronary heart disease in Chinese population

  
@article{APS9004,
	author = {Wei Jin and Yan Liu and Hai-Hui Sheng and Lin Jin and Ya-Yun Shen and Qi Hua and Lin Lu and Jin-De Yu and Wei Huang},
	title = {Single nucleotide polymorphisms in promoter of angiotensin II type 1 receptor gene associated with essential hypertension and coronary heart disease in Chinese population},
	journal = {Acta Pharmacologica Sinica},
	volume = {24},
	number = {11},
	year = {2016},
	keywords = {},
	abstract = {AIM: To discover single nucleotide polymorphisms (SNPs) in the promoter region of angiotensin II type 1 receptor (AT1) gene and evaluate their associations with the occurrence of essential hypertension (EH) and coronary heart disease (CHD) in Chinese Han population. 
METHODS: SNPs detection was performed by PCR-sequencing. The genotype was determined by the same method in a total number of 473 unrelated patients including 160 EH cases, 128 CHD cases, and 185 EH combined with CHD cases as well as 160 healthy controls. 
RESULTS: Six SNPs were discovered in the promoter region of AT1 gene. -810A/T was almost in completely linkage disequilibrium with -713G/T, -214A/C, -213G/C, and -153A/G polymorphisms. No statistically association was found in our population between -810A/T polymorphism and EH, the association of -810A allele and CHD was of borderline significant (chi2=3.649, P=0.056). However, significant differences of genotype distributions were observed in the EH combined with CHD group (TT=126, TA=51, AA=8) compared with the EH patients (TT=127,TA=26, AA=7, chi2=6.410, P=0.041) and the healthy controls (TT=130, TA=24, AA=6, chi2=7.742, P=0.021). The EH combined with CHD patients had a significantly increased A allele frequency than the normal references (0.181 vs 0.106, chi2=7.690, P=0.006) and the EH subjects (0.181 vs 0.125, chi2=4.119, P=0.042). Hypertensive patients carrying TA genotype (OR=1.977, 95 % CI 1.160-3.354, P=0.011) or A allele (OR=1.548, 95 % CI 1.015-2.361, P=0.043) had an increased risk for CHD morbidity. 
CONCLUSION: We firstly report that -810A/T polymorphism in the promoter region of AT1 gene might be a genetic risk factor for the pathogenesis of CHD complicated with EH in Chinese Han population.},
	issn = {1745-7254},	url = {http://www.chinaphar.com/article/view/9004}
}