Prudente Sabrina, Chandalia Manisha, Morini Eleonora, Baratta Roberto, Dallapiccola Bruno, Abate Nicola, Frittitta Lucia, Trischitta Vincenzo
Unit of Diabetes and Endocrinology, Scientific Institute Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Obesity (Silver Spring). 2007 Jan;15(1):1-4. doi: 10.1038/oby.2007.636.
This study investigated the role of the ENPP1/PC-1 gene K121Q polymorphism in predicting BMI (kg/m2) in non-diabetic individuals. Three independent samples (n = 631, n = 304, and n = 505) of adult whites were analyzed. Selection criteria were fasting plasma glucose level <126 mg/dL, absence of severe obesity (BMI > or =40 kg/m2), and lack of treatment known to modulate BMI. In Sample 1, BMI values were different in individuals carrying the K121/K121 (KK), K121/Q121 (KQ), and Q121/Q121 (QQ) genotypes (25.5 +/- 4.3, 25.3 +/- 4.1, and 22.8 +/- 2.5 kg/m2, respectively (adjusted p = 0.022); BMI values in Samples 2 and 3 also tended to be different, although the differences, after adjustment for age and sex, did not reach statistical significance. When data were pooled, BMI values were 25.8 +/- 4.4, 25.6 +/- 4.4, and 23.6 +/- 3.3 kg/m2 in KK, KQ, and QQ individuals (adjusted p = 0.029). According to a recessive model, QQ individuals had lower BMI values than KK and KQ individuals combined (23.6 +/- 3.3 kg/m2 vs. 25.7 +/- 4.4 kg/m2; adjusted p = 0.008). These data suggest that the QQ genotype of the ENPP1/PC-1 gene is associated with lower BMI. If similar results are confirmed in prospective studies, the K121Q polymorphism may help identify people at risk for obesity.
本研究调查了ENPP1/PC-1基因K121Q多态性在预测非糖尿病个体体重指数（kg/m²）中的作用。对三个独立样本（n = 631、n = 304和n = 505）的成年白人进行了分析。选择标准为空腹血糖水平<126 mg/dL、无重度肥胖（体重指数≥40 kg/m²）且无已知可调节体重指数的治疗。在样本1中，携带K121/K121（KK）、K121/Q121（KQ）和Q121/Q121（QQ）基因型的个体的体重指数值不同（分别为25.5±4.3、25.3±4.1和22.8±2.5 kg/m²，校正p = 0.022）；样本2和3中的体重指数值也有差异趋势，尽管在调整年龄和性别后差异未达到统计学显著性。合并数据时，KK、KQ和QQ个体的体重指数值分别为25.8±4.4、25.6±4.4和23.6±3.3 kg/m²（校正p = 0.029）。根据隐性模型，QQ个体的体重指数值低于KK和KQ个体的总和（23.6±3.3 kg/m²对25.7±4.4 kg/m²；校正p = 0.008）。这些数据表明，ENPP1/PC-1基因的QQ基因型与较低的体重指数相关。如果在前瞻性研究中证实了类似结果，K121Q多态性可能有助于识别肥胖风险人群。
