The ENPP1 K121Q polymorphism is not associated with type 2 diabetes or obesity in the Chinese Han population

Abstract

Type 2 diabetes (T2D) mellitus is a metabolic disorder characterized by chronic hyperglycemia and insulin resistance. It has been a worldwide public health problem, which is increasing rapidly, especially in developing countries such as China. The ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene, also known as plasma cell membrane glycoprotein 1, has been reported by genetic association studies as being associated with T2D and obesity in various populations, such as Caucasian and African American. However, there are also some controversial results in Asian populations. Our study tried to examine the associations between ENPP1 and T2D and obesity. Rs1044498 (K121Q) and rs7754561 were genotyped in 1912 patients and 2041 control subjects through TaqMan technology on the ABI7900 system. They showed no statistical association with T2D, obesity or any metabolic quantitative traits. Our meta-analysis result was consistent with it. Our study did not replicate the positive association found previously and suggested that K121Q of ENPP1 might not have a major role in the susceptibility to T2D or obesity in the Chinese Han population.

The ENPP1 K121Q polymorphism is associated with type 2 diabetes and related metabolic phenotypes in a Taiwanese population

“…The ENPP1 rs1044498 SNP has been reported to increase the risk of acquiring T2D in South Asians residing in the USA (Abate et al, 2005), India (Abate et al, 2005), and Taiwan (Wang et al, 2012). In contrast, this association has not been replicated in Japanese (Keshavarz et al, 2006), Taiwanese (Chen et al, 2006), Korean (Seo et al, 2008), Indian (Bhatti et al, 2010), and Chinese (Zhao et al, 2011;Shi et al, 2011) populations. Several meta-analysis studies have also suggested that the ENPP1 rs1044498 SNP is associated with an increased risk of developing T2D in European and Asian populations Li, 2012;Jing et al, 2012;Tang et al, 2014).…”

“…Several meta-analysis studies have also suggested that the ENPP1 rs1044498 SNP is associated with an increased risk of developing T2D in European and Asian populations Li, 2012;Jing et al, 2012;Tang et al, 2014). While the ENPP1 rs1044498 SNP has been associated with obesity in Austrian and French subjects (Meyre et al, 2005), a case-control study in Chinese subjects revealed that there was no association (Zhao et al, 2011).…”

A highly sensitive capillary electrophoresis method using p-nitrophenyl 5′-thymidine monophosphate as a substrate for the monitoring of nucleotide pyrophosphatase/phosphodiesterase activities

“…A major function of NPP1 is in bone mineralization and soft-tissue calcification [8][9][10]. Moreover, NPP1 has also been linked to insulin resistance and type 2 diabetes [11][12][13][14][15]. NPP2 has been shown to promote cancer cell invasion, cell migration, lymphocyte trafficking and angiogenesis [1,16].…”

<b><i>ENPP1</i></b> K121Q Functional Variant Enhances Susceptibility to Insulin Resistance and Dyslipidemia with Metabolic Syndrome in Asian Indians

“…Our results are similar to those of a vast majority of studies carried out in different populations. No evidence for an association of the ENPP1 K121Q variant with insulin resistance or type 2 diabetes was reported in Japanese [38], Spanish [39], Danish Caucasian [40], North Indian [13], UK Caucasian [41], and Chinese [42] populations. Besides, a great difference in allele frequencies was observed between the different populations [26,36,43].…”