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Papers In Press, published online ahead of print July 16, 2004
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Department of Molecular Medicine, National Public Health Institute, Helsinki, Helsinki 00251
Corresponding Author: leena.peltonen{at}ktl.fi
Decreased HDL-cholesterol (HDL-C) and familial combined hyperlipidemia (FCHL) are the two most common familial dyslipidemias predisposing to premature coronary heart disease (CHD). These dyslipidemias share many phenotypic features, suggesting a partially overlapping molecular pathogenesis. This was supported by our previous pooled data analysis of the genome scans for low HDL-C and FCHL, which identified three shared chromosomal regions for a qualitative HDL-C trait on 8q23.1, 16q23.3, and 20q13.32. This study further investigates these regions as well as two other loci we identified earlier for premature CHD on 2q31 and Xq24, and a locus for high serum triglycerides (TGs) on 10q11. We analyzed 67 microsatellite markers in an extended study sample of 1109 individuals from 92 low HDL-C or FCHL families using both qualitative and quantitative lipid phenotypes. These analyses provided evidence for linkage (a lod score of 3.2) on 10q11 using a quantitative HDL-C trait. Importantly, this region, previously linked to TGs, BMI and obesity, provided evidence for association for both quantitative HDL-C and TGs with marker D10S546 (p-value 0.0006). Suggestive evidence for linkage also emerged for HDL-C on 2q31 and for TGs on 20q13.32. Finnish families ascertained for dyslipidemias would thus imply that 10q11, 2q31 and 20q13.32 harbour loci for HDL-C and TGs.
Revised on July 7, 2004
Accepted on July 9, 2004
Locus for quantitative HDL-cholesterol on chromosome 10q in Finnish families with dyslipidemia
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