Localization of a Gene for Peripheral Arterial Occlusive Disease to Chromosome 1p31

• Published in: American journal of human genetics Vol. 70; no. 3; pp. 586 - 592
• Main Authors: Gudmundsson, Gudmundur, Matthiasson, Stefan E., Arason, Haukur, Johannsson, Halldor, Runarsson, Freyr, Bjarnason, Hjördis, Helgadottir, Katrin, Thorisdottir, Steinthora, Ingadottir, Gudrun, Lindpaintner, Klaus, Sainz, Jesus, Gudnason, Vilmundur, Frigge, Michael L., Kong, Augustine, Gulcher, Jeffrey R., Stefansson, Kari
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01.03.2002; University of Chicago Press; The American Society of Human Genetics
• Subjects: Arterial Occlusive Diseases - complications; Arterial Occlusive Diseases - genetics; Atherosclerosis (general aspects, experimental research); Biological and medical sciences; Blood and lymphatic vessels; Cardiology. Vascular system; Chromosome Mapping; Chromosomes, Human, Pair 1 - genetics; Diabetes Complications; Diabetes Mellitus - genetics; Female; Humans; Hyperlipidemias - complications; Hyperlipidemias - genetics; Hypertension - complications; Hypertension - genetics; Iceland; Lod Score; Male; Medical sciences; Microsatellite Repeats - genetics; Pedigree; Peripheral arterial occlusive disease; Risk Factors; Smoking - adverse effects; Atlantic Ocean Islands; Iceland; Human; Short arm; Linkage; Family study; Pathogenesis; Chromosome A1; Cardiovascular disease; Exploration; Genetic determinism; Arterial disease; Vascular disease; Gene; Risk factor; Database; Occlusive arterial disease; Genome; Locus; Comparative study
• ISSN: 0002-9297; 1537-6605
• DOI: 10.1086/339251

Peripheral arterial occlusive disease (PAOD) results from atherosclerosis of large and medium peripheral arteries, as well as the aorta, and has many risk factors, including smoking, diabetes, hypertension, and hyperlipidemia. PAOD often coexists with coronary artery disease and cerebrovascular disease. Cross-matching a population-based list of Icelandic patients with PAOD who had undergone angiography and/or revascularization procedures with a genealogy database of the entire Icelandic nation defined 116 extended families containing 272 patients. A genomewide scan with microsatellite markers revealed significant linkage to chromosome 1p31 with an allele-sharing LOD score of 3.93 ( P=1.04×10 −5). We designate this locus as “PAOD1.” Subtracting 35 patients with a history of stroke increased the LOD score to 4.93. This suggests that, although PAOD and other vascular diseases share risk factors, genetic factors specific to subtypes of vascular disease may exist.