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Protein tyrosine kinase 2beta as a candidate gene for hypertension

Kei Kamide1, Yoshihiro Kokubo, Shigetomo Fukuhara

  • 1Divisions of Hypertension, National Cardiovascular Center, Suita, Osaka, Japan. kamide@hsp.ncvc.go.jp

Pharmacogenetics and Genomics
|December 14, 2007
PubMed

Insights

Genetic variations in the Protein tyrosine kinase 2beta (PTK2B) gene are linked to hypertension in Japanese men. Specific PTK2B polymorphisms may increase the risk and diastolic blood pressure, suggesting a role in essential hypertension.

Area of Science:

  • Genetics
  • Cardiovascular Science
  • Molecular Biology

Background:

  • Protein tyrosine kinase 2beta (PTK2B), a focal adhesion kinase family member, is activated by angiotensin II via Ca2+-dependent pathways.
  • PTK2B is implicated in cell growth, vascular contraction, inflammation, and salt/water balance through angiotensin II type 1 receptor activation.

Purpose of the Study:

  • To investigate the contribution of PTK2B genetic variations to hypertension in the Japanese population.
  • To identify specific PTK2B polymorphisms associated with essential hypertension and blood pressure levels.

Main Methods:

  • Sequencing of the PTK2B gene in 48 hypertensive patients to identify polymorphisms.
  • Genotyping of six representative single nucleotide polymorphisms (SNPs) in a population-based case-control study of 3655 Japanese individuals.
  • Multivariate logistic regression and association analyses were performed, adjusting for covariates.

Main Results:

  • The -22A>G polymorphism in PTK2B showed a significant association with hypertension in men (OR=1.27, P=0.030).
  • The 53484A>C (K838T) polymorphism, in linkage disequilibrium with -22A>G, showed a marginal association with hypertension in men (OR=1.25, P=0.059).
  • Men with the AC+CC genotype of 53484A>C had 1.6 mmHg higher diastolic blood pressure than those with the AA genotype (P=0.003).

Conclusions:

  • A specific haplotype in the PTK2B gene may contribute to the development of essential hypertension in Japanese men.
  • The identified polymorphisms are in linkage disequilibrium, suggesting a broader role for PTK2B in hypertension pathogenesis.

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