Knoblauch H, Busjahn A, Münter S, Nagy Z, Faulhaber H D, Schuster H, Luft F C
Franz Volhard Clinic, Berlin, Germany.
Arterioscler Thromb Vasc Biol. 1997 Oct;17(10):2054-60. doi: 10.1161/01.atv.17.10.2054.
We studied 100 healthy monozygotic and 72 dizygotic twin pairs (mean age, 34 +/- 14 years) to test for genetic influences on blood lipids and to examine relevant gene loci. Total cholesterol (TC), LDL cholesterol (LDL-C), HDL cholesterol (HDL-C), and triglyceride (TG) levels were determined after a 12-hour fast. Zygosity was determined with the use of microsatellite markers. Heritability estimates were conducted by using the lisrel 8 program; a sib-pair analysis was conducted by using the sibpal program. Linear regression analyses were carried out between identical-by-descent status and squared within-pair differences of TC, LDL-C, HDL-C, and TG values. Heritability estimates of the lipid serum concentrations ranged from .58 to .66. A significant linkage relationship was found for HDL-C (P = .008) and TGs (P = .05) with D8S261 on chromosome 8p. However, no linkage was found between any of the lipid variables and the lipoprotein lipase gene locus (LPL GZ14/15 and D8S282). Because D8S261 is located approximately halfway between the LPL and macrophage scavenger receptor genes, we examined the nearby markers D8S549 and D8S1731. Linkage was found for HDL-C and D8S549 (P = .001) and for HDL-C and D8S1731 (P = .04). On the other hand, we found no linkage between the LDL receptor gene locus and LDL-C serum concentrations nor between the LPL gene locus and the various other lipid fractions. Our data suggest a significant influence of the macrophage scavenger receptor gene locus on HDL-C and weak influence on TG levels. We suggest that inherited variability in the macrophage scavenger receptor gene has an influence on serum lipid concentrations.
我们研究了100对健康的同卵双胞胎和72对异卵双胞胎（平均年龄34±14岁），以测试遗传因素对血脂的影响并检测相关基因位点。在禁食12小时后测定总胆固醇（TC）、低密度脂蛋白胆固醇（LDL-C）、高密度脂蛋白胆固醇（HDL-C）和甘油三酯（TG）水平。通过使用微卫星标记确定双胞胎的合子性。使用lisrel 8程序进行遗传力估计；使用sibpal程序进行同胞对分析。在同源状态与TC、LDL-C、HDL-C和TG值的配对内平方差之间进行线性回归分析。血脂血清浓度的遗传力估计范围为0.58至0.66。发现HDL-C（P = 0.008）和TGs（P = 0.05）与8号染色体8p上的D8S261存在显著的连锁关系。然而，未发现任何血脂变量与脂蛋白脂肪酶基因位点（LPL GZ14/15和D8S282）之间存在连锁关系。由于D8S261大约位于LPL和巨噬细胞清道夫受体基因之间的中间位置，我们检测了附近的标记D8S549和D8S1731。发现HDL-C与D8S549（P = 0.001）以及HDL-C与D8S1731（P = 0.04）之间存在连锁关系。另一方面，我们未发现低密度脂蛋白受体基因位点与LDL-C血清浓度之间以及LPL基因位点与其他各种血脂组分之间存在连锁关系。我们的数据表明巨噬细胞清道夫受体基因位点对HDL-C有显著影响，对TG水平有微弱影响。我们认为巨噬细胞清道夫受体基因的遗传变异性对血清脂质浓度有影响。
