Locus for elevated apolipoprotein B levels on chromosome 1p31 in families with familial combined hyperlipidemia
| Autor: | Aldons J. Lusis, Rebecca Mar, Hooman Allayee, Tjerk W.A. de Bruin, Päivi Pajukanta, Carla J.H. van der Kallen, Rita M. Cantor, Jerome I. Rotter, Leena Peltonen, Kelly L. Krass |
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| Přispěvatelé: | Interne Geneeskunde, RS: NUTRIM School of Nutrition and Translational Research in Metabolism, RS: CARIM School for Cardiovascular Diseases |
| Jazyk: | angličtina |
| Rok vydání: | 2002 |
| Předmět: |
Male
medicine.medical_specialty Apolipoprotein B Physiology Hyperlipidemias Receptors Cell Surface Locus (genetics) Genetic determinism Internal medicine medicine Humans Glucose homeostasis Gene Apolipoproteins B Netherlands Family Health Genetics Polymorphism Genetic Leptin receptor biology Chromosome Mapping Endocrinology Chromosomes Human Pair 1 Case-Control Studies Chromosomal region biology.protein Receptors Leptin Microsatellite Female lipids (amino acids peptides and proteins) Carrier Proteins Cardiology and Cardiovascular Medicine |
| Zdroj: | Circulation Research, 90(8), 926-931. LIPPINCOTT WILLIAMS & WILKINS |
| ISSN: | 0009-7330 |
| DOI: | 10.1161/01.res.0000015885.27134.f0 |
| Popis: | Department of Human Genetics, Gonda Genetics Research Center, University of California, Los Angeles 90095, USA. hallayee@ucla.eduFamilial combined hyperlipidemia (FCH), a common cause of premature coronary artery disease, is genetically complex and poorly understood. Recently, a major locus on chromosome 1q21-23 exhibiting highly significant linkage was identified in Finnish FCH families by use of a parametric analysis. We now report highly significant evidence of linkage (maximum LOD score 3.8, recombination fraction 0) of an important FCH phenotype, elevated apolipoprotein B (apoB) levels, to a distinctly separate locus on chromosome 1p31 in Dutch pedigrees. ApoB is the major protein on very low density and low density lipoproteins, and elevated apoB levels have been used as a surrogate trait for FCH. Additional microsatellite markers in the 1p31 region were genotyped, and evidence of linkage improved (maximum LOD score 4.7) in a multipoint analysis of two markers in the peak region. The leptin receptor gene resides within this locus and is involved in obesity and insulin/glucose homeostasis. However, there was no evidence of an association between leptin receptor and apoB levels, raising the possibility that another gene on this chromosomal region contributes to elevated apoB levels in this Dutch population. This is one of the first loci identified for apoB levels in humans and is the second major locus implicated in the genetic etiology of FCH. |
| Databáze: | OpenAIRE |
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