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Sibpair studies implicate chromosome 18 in essential hypertension.

Sue Rutherford1, Matthew P Johnson, Lyn R Griffiths

  • 1Genomics Research Centre, School of Health Science, Griffith University, Gold Coast, Australia.

American Journal of Medical Genetics. Part A
|April 1, 2004
PubMed
Summary

Chromosome 18 plays a role in essential hypertension. Genetic linkage analysis identified specific markers on chromosome 18, including near the ADCYAP1 gene, associated with hypertension risk.

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Area of Science:

  • Genetics
  • Cardiovascular Disease Research
  • Human Physiology

Background:

  • Previous studies suggest a potential role for chromosome 18 in blood pressure regulation.
  • Essential hypertension is a complex cardiovascular condition with a significant genetic component.

Purpose of the Study:

  • To investigate the involvement of human chromosome 18 in the development of essential hypertension.
  • To identify specific genetic markers on chromosome 18 linked to hypertension.

Main Methods:

  • Utilized a linkage scan approach with twelve microsatellite markers on chromosome 18.
  • Genotyped 177 Australian Caucasian hypertensive sibling pairs.
  • Analyzed linkage data using SPLINK, ANALYZE (Sibpair), and MAPMAKER SIBS.

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Main Results:

  • Significant excess allele sharing was observed for markers D18S61 and D18S59.
  • The adenylate cyclase activating polypeptide 1 (ADCYAP1) gene, located near D18S59, showed a possible association with hypertension.
  • No association was found between ADCYAP1 and obesity.

Conclusions:

  • Chromosome 18 is implicated in essential hypertension.
  • The genomic region near or including the ADCYAP1 gene may play a role in hypertension development.
  • Further research is needed to confirm the role of ADCYAP1 polymorphisms in essential hypertension.