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 journalArticlepeer-review

61 Citations (Scopus)


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
Issue number3
Publication statusPublished - Mar 1 2009
Externally publishedYes


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

ASJC Scopus subject areas

  • Internal Medicine
  • Physiology
  • Cardiology and Cardiovascular Medicine


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