title: The ENPP1 K121Q polymorphism is not associated with type 2 diabetes in northern Chinese.
abstract: 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.
authors: Key Laboratory of Geriatrics, Institute of Geriatrics, Beijing Hospital, Ministry of Health, Beijing, 100730, China. sxh_cnu@yahoo.com.cn.
authors: Xiaohong
authors: X
authors: Shi
authors: Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, 100101, China.
authors: Li
authors: L
authors: Wang
authors: Key Laboratory of Mental Health, Institute of Psychology, Chinese Academy of Sciences, Beijing, 100101, China.
authors: Feng
authors: F
authors: Jin
authors: Key Laboratory of Geriatrics, Institute of Geriatrics, Beijing Hospital, Ministry of Health, Beijing, 100730, China.
authors: Junfeng
authors: J
authors: Sun
authors: Key Laboratory of Geriatrics, Institute of Geriatrics, Beijing Hospital, Ministry of Health, Beijing, 100730, China.
authors: Liang
authors: L
authors: Sun
authors: Key Laboratory of Geriatrics, Institute of Geriatrics, Beijing Hospital, Ministry of Health, Beijing, 100730, China.
authors: Lei
authors: L
authors: Tang
authors: Key Laboratory of Geriatrics, Institute of Geriatrics, Beijing Hospital, Ministry of Health, Beijing, 100730, China. yangze016@yahoo.com.cn.
authors: Ze
authors: Z
authors: Yang
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D002681:China / Q000453:epidemiology; D003924:Diabetes Mellitus, Type 2 / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011755:Pyrophosphatases / Q000235:genetics*
chemical_list: D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; D011755:Pyrophosphatases