Family-based analysis of apelin and AGTRL1 gene polymorphisms with hypertension in Han Chinese

J Hypertens. 2009 Jun;27(6):1194-201. doi: 10.1097/HJH.0b013e32832a3eb1.


Objective: Apelin and AGTRL1 (angiotensin receptor-like 1), elements of a newly identified pathway with a role in counter regulating the renin-angiotensin system, have been implicated in blood pressure regulation. This study aims to assess whether the apelin and AGTRL1 genetic polymorphisms might contribute to essential hypertension or its related phenotypes.

Methods: We recruited 1015 Han Chinese from 248 families with essential hypertension. Each individual was genotyped for 6 single nucleotide polymorphisms (SNPs) in apelin and 6 SNPs in AGTRL1. Data were analyzed using the family-based association test (FBAT) and the haplotype-based association test (HBAT).

Results: FBAT analysis showed that two SNPs rs3761581 and T-1860C within apelin conferred significant association with hypertension and its related phenotypes even after correcting for age and gender. Three SNPs (rs7119375, rs10501367 and rs9943582) within AGTRL1 were found to be associated with hypertension, BMI and the onset age of hypertension, whereas after correction, only marginal associations were noted. Of the common haplotypes (with frequencies over 3%), haplotypes (A-T) and (C-C) comprising rs3761581 and T-1860C in apelin and haplotype (G-G) comprising rs10501367 and rs7119375 in AGTRL1 were shown to be significantly associated with hypertension, BMI and the onset age of hypertension, even after a permutation correction.

Conclusions: Our study suggests that genetic variation within apelin and AGTRL1 likely contributes to essential hypertension, BMI and the onset age of hypertension. Future well designed epidemiological or functional studies would be warranted to validate this hypothesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Apelin
  • Apelin Receptors
  • Asian People / genetics*
  • Body Mass Index
  • China
  • Chromosome Mapping
  • Chromosomes, Human, Pair 11 / genetics
  • Chromosomes, Human, X / genetics
  • Female
  • Haplotypes
  • Humans
  • Hypertension / etiology
  • Hypertension / genetics*
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Ligands
  • Male
  • Middle Aged
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Receptors, G-Protein-Coupled / genetics*


  • APLN protein, human
  • APLNR protein, human
  • Apelin
  • Apelin Receptors
  • Intercellular Signaling Peptides and Proteins
  • Ligands
  • Receptors, G-Protein-Coupled