title: Genome scans provide evidence for low-HDL-C loci on chromosomes 8q23, 16q24.1-24.2, and 20q13.11 in Finnish families.
abstract: We performed a genomewide scan for genes that predispose to low serum HDL cholesterol (HDL-C) in 25 well-defined Finnish families that were ascertained for familial low HDL-C and premature coronary heart disease. The potential loci for low HDL-C that were identified initially were tested in an independent sample group of 29 Finnish families that were ascertained for familial combined hyperlipidemia (FCHL), expressing low HDL-C as one component trait. The data from the previous genome scan were also reanalyzed for this trait. We found evidence for linkage between the low-HDL-C trait and three loci, in a pooled data analysis of families with low HDL-C and FCHL. The strongest statistical evidence was obtained at a locus on chromosome 8q23, with a two-point LOD score of 4.7 under a recessive mode of inheritance and a multipoint LOD score of 3.3. Evidence for linkage also emerged for loci on chromosomes 16q24.1-24.2 and 20q13.11, the latter representing a recently characterized region for type 2 diabetes. Besides these three loci, loci on chromosomes 2p and 3p showed linkage in the families with low HDL-C and a locus on 2ptel in the families with FCHL.
authors.affiliation: Department of Human Genetics, Gonda Neuroscience and Genetics Research Center, University of California, Los Angeles, CA 90095-7088, USA.
authors.forename: Aino
authors.initials: A
authors.lastname: Soro
authors.forename: Päivi
authors.initials: P
authors.lastname: Pajukanta
authors.forename: Heidi E
authors.initials: HE
authors.lastname: Lilja
authors.forename: Kati
authors.initials: K
authors.lastname: Ylitalo
authors.forename: Tero
authors.initials: T
authors.lastname: Hiekkalinna
authors.forename: Markus
authors.initials: M
authors.lastname: Perola
authors.forename: Rita M
authors.initials: RM
authors.lastname: Cantor
authors.forename: Jorma S A
authors.initials: JS
authors.lastname: Viikari
authors.forename: Marja-Riitta
authors.initials: MR
authors.lastname: Taskinen
authors.forename: Leena
authors.initials: L
authors.lastname: Peltonen
mesh_terms: D000328:Adult; D015992:Body Mass Index; D008076:Cholesterol, HDL / Q000097:blood* / Q000235:genetics*; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics; D005260:Female; D005387:Finland; D005808:Genes, Recessive / Q000235:genetics; D015894:Genome, Human; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D010641:Phenotype
chemical_list: D008076:Cholesterol, HDL