Genetic polymorphisms of the angiotensin II type 1 receptor gene and diastolic heart failure

Cho Kai Wu, Chia Ti Tsai, Yi Cheng Chang, Jing Ling Luo, Yi Chih Wang, Juey Jen Hwang, Jiunn Lee Lin, Chuen Den Tseng, Fu Tien Chiang

Research output: Contribution to journalArticle

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Abstract

OBJECTIVES: The aim of the study was to investigate the association between angiotensin II type 1 receptor (AGTR1) gene polymorphisms and diastolic heart failure (DHF) in a case controlled study. METHODS: Of 1752 consecutive patients analyzed, 176 diagnosed with DHF and confirmed by echocardiography were recruited. Controls were matched one-to-one by age, sex, hypertension, diabetes, renal function, and medication use. We genotyped 11 single nucleotide polymorphisms (SNPs) according to the HapMap Han Chinese Beijing databank across the AGTR1 gene to capture 96% of the haplotype variance in all SNPs with minor allele frequencies at least 5%. We also genotyped A1166C (rs5186) SNP with known associations with cardiovascular disease and analyzed associations of SNPs and haplotypes with DHF and linkage disequilibrium structure of the AGTR1 gene. RESULTS: In a single locus analysis, SNP rs16860760, rs389566, and rs5186 were associated with DHF (allele specific P = 0.004, 0.002, 0.002, respectively; permuted P = 0.045, 0.022, 0.027, respectively). SNP rs389566, with a minor allele frequency of 20.17%, had an odds ratio (OR) 2.03 for the autosomal dominant model [AA + AT: TT, 95% confidence interval (CI) 1.29-3.19; P = 0.0012] and 1.73 for the additive model (95% CI 1.21-2.48; P = 0.0018) corresponding to a population attributable risk fraction of 27.21%. The haplotypes in a linkage disequilibrium block of rs389566 (T-A-G and A-A-G) were also significantly associated with DHF (permuted P = 0.0125 and 0.0105, respectively). CONCLUSION: We identified risk-conferring genetic variants of the AGTR1 gene for DHF in a Chinese population.

Original languageEnglish
Pages (from-to)502-507
Number of pages6
JournalJournal of Hypertension
Volume27
Issue number3
DOIs
Publication statusPublished - Mar 1 2009
Externally publishedYes

Fingerprint

Diastolic Heart Failure
Angiotensin Type 1 Receptor
Genetic Polymorphisms
Single Nucleotide Polymorphism
Haplotypes
Genes
Linkage Disequilibrium
Gene Frequency
Confidence Intervals
HapMap Project
Renal Hypertension
Population
Echocardiography
Cardiovascular Diseases
Alleles
Odds Ratio
Databases

Keywords

  • Angiotensin II type 1 receptor
  • Diastolic heart failure
  • Genetics
  • Polymorphism

ASJC Scopus subject areas

  • Internal Medicine
  • Physiology
  • Cardiology and Cardiovascular Medicine

Cite this

Wu, C. K., Tsai, C. T., Chang, Y. C., Luo, J. L., Wang, Y. C., Hwang, J. J., ... Chiang, F. T. (2009). Genetic polymorphisms of the angiotensin II type 1 receptor gene and diastolic heart failure. Journal of Hypertension, 27(3), 502-507. https://doi.org/10.1097/HJH.0b013e32831fda3a

Genetic polymorphisms of the angiotensin II type 1 receptor gene and diastolic heart failure. / Wu, Cho Kai; Tsai, Chia Ti; Chang, Yi Cheng; Luo, Jing Ling; Wang, Yi Chih; Hwang, Juey Jen; Lin, Jiunn Lee; Tseng, Chuen Den; Chiang, Fu Tien.

In: Journal of Hypertension, Vol. 27, No. 3, 01.03.2009, p. 502-507.

Research output: Contribution to journalArticle

Wu, CK, Tsai, CT, Chang, YC, Luo, JL, Wang, YC, Hwang, JJ, Lin, JL, Tseng, CD & Chiang, FT 2009, 'Genetic polymorphisms of the angiotensin II type 1 receptor gene and diastolic heart failure', Journal of Hypertension, vol. 27, no. 3, pp. 502-507. https://doi.org/10.1097/HJH.0b013e32831fda3a
Wu, Cho Kai ; Tsai, Chia Ti ; Chang, Yi Cheng ; Luo, Jing Ling ; Wang, Yi Chih ; Hwang, Juey Jen ; Lin, Jiunn Lee ; Tseng, Chuen Den ; Chiang, Fu Tien. / Genetic polymorphisms of the angiotensin II type 1 receptor gene and diastolic heart failure. In: Journal of Hypertension. 2009 ; Vol. 27, No. 3. pp. 502-507.
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AU - Hwang, Juey Jen

AU - Lin, Jiunn Lee

AU - Tseng, Chuen Den

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AB - OBJECTIVES: The aim of the study was to investigate the association between angiotensin II type 1 receptor (AGTR1) gene polymorphisms and diastolic heart failure (DHF) in a case controlled study. METHODS: Of 1752 consecutive patients analyzed, 176 diagnosed with DHF and confirmed by echocardiography were recruited. Controls were matched one-to-one by age, sex, hypertension, diabetes, renal function, and medication use. We genotyped 11 single nucleotide polymorphisms (SNPs) according to the HapMap Han Chinese Beijing databank across the AGTR1 gene to capture 96% of the haplotype variance in all SNPs with minor allele frequencies at least 5%. We also genotyped A1166C (rs5186) SNP with known associations with cardiovascular disease and analyzed associations of SNPs and haplotypes with DHF and linkage disequilibrium structure of the AGTR1 gene. RESULTS: In a single locus analysis, SNP rs16860760, rs389566, and rs5186 were associated with DHF (allele specific P = 0.004, 0.002, 0.002, respectively; permuted P = 0.045, 0.022, 0.027, respectively). SNP rs389566, with a minor allele frequency of 20.17%, had an odds ratio (OR) 2.03 for the autosomal dominant model [AA + AT: TT, 95% confidence interval (CI) 1.29-3.19; P = 0.0012] and 1.73 for the additive model (95% CI 1.21-2.48; P = 0.0018) corresponding to a population attributable risk fraction of 27.21%. The haplotypes in a linkage disequilibrium block of rs389566 (T-A-G and A-A-G) were also significantly associated with DHF (permuted P = 0.0125 and 0.0105, respectively). CONCLUSION: We identified risk-conferring genetic variants of the AGTR1 gene for DHF in a Chinese population.

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