Xiang K S, Cox N J, Sanz N, Huang P, Karam J H, Bell G I
Department of Biochemistry, Howard Hughes Medical Institute, University of Chicago, Illinois 60637.
Diabetes. 1989 Jan;38(1):17-23. doi: 10.2337/diab.38.1.17.
The frequencies of restriction-fragment-length polymorphism (RFLP) alleles as well as RFLP haplotypes at six genetic loci responsible for carbohydrate and lipid metabolism [insulin/insulin-like growth factor II complex, insulin receptor (INSR), HepG2/erythrocyte-type glucose transporter, apolipoprotein A-II, apolipoprotein B (APOB), and the apolipoprotein A-I/C-III/A-IV cluster (APOA1/C3/A4)] were compared between nondiabetic and diabetic Chinese Americans. The disease-association data suggest that genetic variation at the INSR, APOB, and APOA1/C3/A4 loci contributes to the development of non-insulin-dependent diabetes mellitus (NIDDM). The analysis of the INSR locus revealed "protective" haplotypes, and it may be possible to use two of the INSR haplotypes as genetic markers to identify individuals having a very low probability of developing NIDDM regardless of the presence of other genes conferring susceptibility to this disorder. The APOB and APOA1/C3/A4 loci appear to contribute to the development of NIDDM in individuals who are of lean/normal weight and overweight, respectively. The APOA1/C3/A4 locus may account for approximately 8% of the difference between baseline and total possible risk of NIDDM in overweight individuals.
比较了非糖尿病和糖尿病华裔美国人中六个负责碳水化合物和脂质代谢的基因位点[胰岛素/胰岛素样生长因子II复合物、胰岛素受体（INSR）、HepG2/红细胞型葡萄糖转运蛋白、载脂蛋白A-II、载脂蛋白B（APOB）以及载脂蛋白A-I/C-III/A-IV簇（APOA1/C3/A4）]的限制性片段长度多态性（RFLP）等位基因频率和RFLP单倍型。疾病关联数据表明，INSR、APOB和APOA1/C3/A4基因座的遗传变异与非胰岛素依赖型糖尿病（NIDDM）的发生有关。对INSR基因座的分析揭示了“保护性”单倍型，并且有可能使用其中两种INSR单倍型作为遗传标记，以识别无论是否存在其他导致该疾病易感性的基因，患NIDDM概率都非常低的个体。APOB和APOA1/C3/A4基因座似乎分别在体重偏瘦/正常和超重的个体中对NIDDM的发生起作用。APOA1/C3/A4基因座可能占超重个体中NIDDM基线风险与总潜在风险差异的约8%。
