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Localization of a gene for peripheral arterial occlusive disease to chromosome 1p31

Gudmundur Gudmundsson1, Stefan E Matthiasson, Haukur Arason

  • 1deCODE Genetics, Reykjavik, Iceland.

American Journal of Human Genetics
|February 8, 2002
PubMed

Insights

Researchers identified a specific gene locus, PAOD1 on chromosome 1p31, linked to peripheral arterial occlusive disease (PAOD). This finding suggests distinct genetic factors may contribute to vascular disease subtypes.

Area of Science:

  • Genetics
  • Cardiovascular Disease
  • Epidemiology

Background:

  • Peripheral arterial occlusive disease (PAOD) stems from atherosclerosis in major arteries, sharing risk factors like smoking, diabetes, hypertension, and hyperlipidemia with coronary and cerebrovascular diseases.
  • PAOD often presents concurrently with other cardiovascular and cerebrovascular conditions, indicating potential shared underlying mechanisms.

Purpose of the Study:

  • To investigate the genetic underpinnings of peripheral arterial occlusive disease (PAOD) within the Icelandic population.
  • To identify potential genetic loci associated with PAOD through a genomewide scan.

Main Methods:

  • A population-based cohort of 272 Icelandic PAOD patients, identified through angiography/revascularization records, was cross-matched with a national genealogy database.
  • A genomewide scan utilizing microsatellite markers was performed on 116 extended families.
  • Linkage analysis was conducted, including an analysis excluding patients with a history of stroke to refine locus identification.

Main Results:

  • Significant linkage to chromosome 1p31 was detected, designated as PAOD1, with an allele-sharing LOD score of 3.93.
  • Excluding patients with a history of stroke strengthened the linkage, increasing the LOD score to 4.93.
  • The results indicate a specific genetic locus associated with PAOD.

Conclusions:

  • A novel genetic locus, PAOD1 on chromosome 1p31, is significantly associated with peripheral arterial occlusive disease.
  • The findings suggest the existence of genetic factors specific to PAOD, distinct from those contributing to other vascular diseases like stroke, despite shared risk factors.

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