Morton N E, Gulbrandsen C L, Rhoads G G, Kagan A, Lew R
Am J Hum Genet. 1978 Nov;30(6):583-9.
In more than 500 families of Japanese ancestry, selected in part through fathers with hyperlipemia or coronary heart disease, a major locus for hyper-beta-cholesterolemia (hyperlipoproteinemia type IIa) is highly significant (chi22 = 24.02), with an allele frequency .002 in the general population. This gene is revealed with about the same power by fasting levels of LDL (low density lipoprotein) cholesterol and total cholesterol. However, VLDL (very low density lipoprotein) cholesterol, HDL (high density lipoprotein) cholesterol, and triglyceride give no convincing evidence for a major locus in this population, nor was a gene for combined hyperlipoproteinemia detected.
在500多个有日本血统的家庭中,部分是通过患有高脂血症或冠心病的父亲挑选出来的,高β-胆固醇血症(IIa型高脂蛋白血症)的一个主要基因座具有高度显著性(χ22 = 24.02),在普通人群中的等位基因频率为0.002。通过低密度脂蛋白(LDL)胆固醇和总胆固醇的空腹水平发现该基因的能力大致相同。然而,极低密度脂蛋白(VLDL)胆固醇、高密度脂蛋白(HDL)胆固醇和甘油三酯并未提供令人信服的证据证明该人群中存在主要基因座,也未检测到混合性高脂蛋白血症的基因。