[PDF][PDF] Genome scans provide evidence for low-HDL-C loci on chromosomes 8q23, 16q24. 1-24.2, and 20q13. 11 in Finnish families

A Soro, P Pajukanta, HE Lilja, K Ylitalo… - The American journal of …, 2002 - cell.com
A Soro, P Pajukanta, HE Lilja, K Ylitalo, T Hiekkalinna, M Perola, RM Cantor, JSA Viikari…
The American journal of human genetics, 2002cell.com
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 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.
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