Identification of the susceptive genes for hypercholesterolemia and hypoalphalipoproteinemia by Genome-wide linkage analysis

我们对影响日本人群血脂水平个体间变异的易感基因进行了全基因组连锁搜索。我们分析了43个日本高胆固醇血症先证家族（172个成员）352个微卫星标记的基因型数据。采用Haseman-Elston法对血脂水平进行定量性状位点（QTL）分析。我们观察到D3S1580、D11S935和D15S120上的血清总胆固醇水平的关联有显著的LOD评分。此外，我们还在另外32个日本家庭（138名成员）中观察到显著性。只有血清总胆固醇水平与D3S1580之间的联系已被确定。这些数据表明，D3S1580周围的染色体区域可能是影响总胆固醇水平变异的易感区域。进一步的研究将有必要确定和测试该地区高胆固醇血症和低脂蛋白血症的合理候选基因。

We conducted a genome-wide linkage search for susceptibility gene influencing interindividual variation in serum lipid levels in a Japanese population. We have analyzed genotypic data of 352 microsatellite markers in 43 Japanese families (172 members) of probands with hypercholesterolemia. Quantitative-trait-locus (QTL) analysis for serum lipid levels was carried out by a Haseman-Elston method. We have observed significant LOD scores for the linkage of serum total cholesterol level on D3S1580, D11S935, and D15S120. In addition, we have observed significant in another 32 Japanese families (138 members). Only the linkage between serum total cholesterol level and D3S1580 have been ascertained. These data suggest that the chromosomal region around D3S1580 may be a susceptibility region influencing variation in total cholesterol level. Further investigation will be necessary to identify and test plausible candidate genes for hypercholesterolemia and hypoalphalipoproteinemia in this region.