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. 2005 Jun;1(1):16-22.

Association study: the aminopeptidase a gene and essential hypertension

Morihiko Sano  1 , Nobuhiro Kuroi, Tomohiro Nakayama, Naoyuki Sato, Yoichi Izumi, Masayoshi Soma
Affiliations

Association study: the aminopeptidase a gene and essential hypertension

Morihiko Sano et al. Int J Biomed Sci. 2005 Jun.

Abstract

Aminopeptidase A (APA) cleaves the N-terminal aspartyl acid residue of angiotensin II (Ang II) to produce angiotensin III (Ang III). It has been reported that the APA knockout mouse exhibits elevated blood pressure. Therefore, the APA gene is thought to be a susceptibility gene for essential hypertension (EH). However, extensive studies have yet to define the relationship between the APA gene and EH. The aims of this study were to genotype some of the single nucleotide polymorphisms (SNPs) for the human APA gene and to perform a haplotype-based case-control study to further assess the association between and the APA gene and EH. We performed a genetic association study using SNPs in 227 EH patients and 221 age-matched normotensive (NT) individuals. Although the overall distribution of the genotype did not significantly differ between the EH and NT groups when the entire group of subjects were evaluated, the frequency of rs2290105 did differ between the two when just women were included in the analysis. The haplotype-based case-control analysis also revealed a significant difference between the women of the EH and NT groups. The A-T-A-C haplotype was significantly higher in the EH versus the NT group. These results suggest that rs2290105 and the A-T-A-C haplotype of the APA gene are genetic markers for EH, and that APA or a neighboring gene might be a susceptibility gene for EH.

Keywords: aminopeptidase A; association study; essential hypertension; genetic; haplotype; single nucleotide polymorphism.

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Figures

Figure 1
Figure 1
Organization of the human APA gene and location of the SNPs used for the association study. Closed black boxes indicate exons (coding region), closed white box indicate exons (non coding region) and lines indicate introns.
See this image and copyright information in PMC

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