Morrison John A, Gruppo Ralph, Glueck Charles J, Stroop Davis, Fontaine Robert N, Wang Ping, Smith Kathleen L
Division of Cardiology, Children's Hospital Medical Center, Cincinnati, OH, USA.
Metabolism. 2004 Apr;53(4):465-8. doi: 10.1016/j.metabol.2003.10.029.
The K121Q polymorphism of the glycoprotein PC-1 gene was recently reported to associate with insulin resistance (IR) in an all-Caucasian, Sicilian population. Given black-white differences in plasma insulin and IR, we compared the prevalence of the KK, KQ, and QQ genotypes and their associations with insulin and IR in 2 large, biracial pediatric samples: 1 hospital-based (n = 301, 137 blacks and 164 whites) and 1 school-based (n = 639, 344 blacks and 295 whites). The Q allele frequencies in the hospital-based and school-based cohorts in black children were 0.80 and 0.77 and in the white children, 0.15 and 0.13. The K allele frequencies in the hospital-based and school-based cohorts in black children were 0.20 and 0.23 and in the white children, 0.85 and 0.87. Differences in allelic frequencies were highly significant (chi square test, P <.0001) for both the hospital-based cohort and the school-based cohort. Both cohorts were in Hardy-Weinberg equilibrium. Within race, after covariance adjusting for age and body mass index (BMI), there were no significant differences (P >/=.10) among the 3 PC-1 genotypes for insulin, glucose, or homeostasis model assessment (HOMA) IR. After covariance adjusting for age and BMI, black girls had higher insulin (P =.0007) and higher HOMA IR (P =.0002) than white girls. The K121Q polymorphism was not associated with insulin, glucose, or HOMA IR measures in black or white children. However, the QQ genotype was population-specific, encompassing most black children versus 1% to 3% of white children. As such, K121Q genotyping should be useful in epidemiology, population genetics, and forensic anthropology.
最近有报道称，在一个全是西西里白人的群体中，糖蛋白PC - 1基因的K121Q多态性与胰岛素抵抗（IR）相关。鉴于黑人和白人在血浆胰岛素和胰岛素抵抗方面存在差异，我们在两个大型的混血儿儿童样本中比较了KK、KQ和QQ基因型的流行情况及其与胰岛素和胰岛素抵抗的关联：一个是基于医院的样本（n = 301，137名黑人儿童和164名白人儿童），另一个是基于学校的样本（n = 639，344名黑人儿童和295名白人儿童）。在基于医院的队列和基于学校的队列中，黑人儿童的Q等位基因频率分别为0.80和0.77，白人儿童的Q等位基因频率分别为0.15和0.13。在基于医院的队列和基于学校的队列中，黑人儿童的K等位基因频率分别为0.20和0.23，白人儿童的K等位基因频率分别为0.85和0.87。对于基于医院的队列和基于学校的队列，等位基因频率的差异均具有高度显著性（卡方检验，P <.0001）。两个队列均处于哈迪-温伯格平衡。在种族内部，在对年龄和体重指数（BMI）进行协方差调整后，胰岛素、血糖或稳态模型评估（HOMA）胰岛素抵抗在三种PC - 1基因型之间没有显著差异（P≥.10）。在对年龄和BMI进行协方差调整后，黑人女孩的胰岛素水平（P =.0007）和HOMA胰岛素抵抗水平（P =.0002）高于白人女孩。K121Q多态性与黑人或白人儿童的胰岛素、血糖或HOMA胰岛素抵抗指标无关。然而，QQ基因型具有人群特异性，涵盖了大多数黑人儿童，而白人儿童中只有1%至3%。因此，K121Q基因分型在流行病学、群体遗传学和法医人类学中应该是有用的。
