High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 2

Mapping

Soro et al. (2002) performed a genomewide scan for genes that predispose to low serum HDL cholesterol (see 604091) in 25 well-defined Finnish families that had been ascertained for familial low HDL cholesterol and premature coronary heart disease. They found evidence for linkage between the low HDL cholesterol trait and 3 loci, in a pooled data analysis of families with low HDL cholesterol and familial combined hyperlipidemia (FCHL; 144250). The strongest statistical evidence was obtained at a locus on 8q23, with a 2-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 16q24.1-q24.2 and 20q13.11, the latter representing a region to which type II diabetes (125853) has been mapped (NIDDM3; 603694). Low HDL cholesterol is a common feature in type II diabetes.