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

我们进行了一个全基因组的连锁搜索易感基因影响个体间变异的血脂水平在日本人口。我们分析了43个日本家族（172名成员）的高胆固醇血症先证者的352个微卫星标记的基因型数据。采用Haseman-Elston方法对血脂水平进行了QTL分析。我们在D3 S1580、D11 S935和D15 S120上观察到血清总胆固醇水平关联的显著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。仅血清总胆固醇水平与D3 S1580之间的联系已被确定。这些数据表明，D3 S1580周围的染色体区域可能是影响总胆固醇水平变化的易感区域。进一步的研究将是必要的，以确定和测试合理的候选基因，高胆固醇血症和低脂蛋白血症在这一地区。

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.