Key Laboratory of Geriatrics, Institute of Geriatrics, Beijing Hospital, Ministry of Health, Beijing, 100730, China.
Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, 100101, China.
Acta Diabetol. 2011 Dec;48(4):303-310. doi: 10.1007/s00592-011-0281-1. Epub 2011 Mar 31.
The K121Q polymorphism of the ectoenzyme nucleotide pyrophosphate phosphodiesterase 1 (ENPP1) gene has been studied in relation to insulin resistance, type 2 diabetes, and obesity, and conflicting results were observed in various populations. The purpose of the present study was to investigate the prevalence of K121Q polymorphism of ENPP1 gene and to clarify whether this polymorphism is associated with type 2 diabetes susceptibility in northern Chinese population. We studied the association of the ENPP1 K121Q polymorphism with type 2 diabetes (T2D) in 639 unrelated patients and 885 control subjects with normal glucose tolerance of northern China. The patients were diagnosed in accordance with the guidelines of the American Diabetes Association (ADA). Genotypes were determined by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The distribution of KK, KQ, and QQ genotypes among patients was 79.5, 19.2, and 1.3%, similar to that of the control group (79.2, 20.1, and 0.7%). After readjusting for the confounding effects of age, gender, and BMI, no significant effect of genotypes on T2D was found for any of the genetic models tested (recessive model, dominant model, or additive model). All clinical characteristics tested were similar among the different genotypes, and no significant associations were observed both in T2D patients and in controls. When subgroup analyses of T2D patients and non-diabetic controls were stratified according to BMI and waist circumference, the variant was still not associated with T2D. The results showed that the ENPP1 K121Q polymorphism is not associated with genetic susceptibility of type 2 diabetes in the northern Chinese population.
K121Q 多态性的外核苷酸焦磷酸磷酸二酯酶 1（ENPP1）基因已经研究了与胰岛素抵抗，2 型糖尿病和肥胖，并在不同人群中观察到相互矛盾的结果。本研究的目的是探讨 ENPP1 基因 K121Q 多态性的流行情况，并阐明这种多态性是否与中国北方人群 2 型糖尿病易感性有关。我们研究了中国北方 639 例 2 型糖尿病（T2D）患者和 885 例糖耐量正常对照者中 ENPP1 K121Q 多态性与 T2D 的关系。根据美国糖尿病协会（ADA）的指南诊断患者。基因型采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法确定。患者组 KK、KQ 和 QQ 基因型的分布分别为 79.5%、19.2%和 1.3%，与对照组相似（79.2%、20.1%和 0.7%）。在调整年龄、性别和 BMI 的混杂效应后，任何遗传模型（隐性模型、显性模型或加性模型）的基因型对 T2D 均无显著影响。在不同基因型的 T2D 患者和对照组中，所有测试的临床特征均相似，且均无显著相关性。在根据 BMI 和腰围对 T2D 患者和非糖尿病对照组进行亚组分析时，该变体与 T2D 仍无相关性。结果表明，ENPP1 K121Q 多态性与中国北方人群 2 型糖尿病的遗传易感性无关。
