Analysis of common PTPN1gene variants in type 2 diabetes, obesity and associated phenotypes in the French population

Abstract

Background: The protein tyrosine phosphatase-1B, a negative regulator for insulin and leptin signalling, potentially modulates glucose and energy homeostasis. PTP1B is encoded by the PTPN1 gene located on chromosome 20q13 showing linkage with type 2 diabetes (T2D) in several populations. PTPN1 gene variants have been inconsistently associated with T2D, and the aim of our study was to investigate the effect of PTPN1 genetic variations on the risk of T2D, obesity and on the variability of metabolic phenotypes in the French population.

Protein Tyrosine Phosphatase N1 Gene Variants Associated with Type 2 Diabetes Mellitus and Its Related Phenotypes in the Korean Population

“…The association between the PTPN1 gene and blood pressure was greatly in concordance with previous two reports (Cheyssac et al, 2006;Spencer-Jones et al, 2005). Both reports suggested that PTPN1 gene variants increase blood pressure.…”

“…Two SNPs (rs941798 and rs3787348) effected decreased HDL cholesterol levels in minor allele homozygotes. This result also has been replicated in another report (Cheyssac et al, 2006), but the previous report showed a marginal association, while our results revealed lower p-values (rs941794 p=0.002, and rs3787348 p=0.003). Both SNPs showed a significant association with blood pressure, implying that the increased blood pressure might result in low HDL cholesterol levels and be related to lipid metabolism, which is another molecular pathway of PTPN1 function (Santaniemi et al, 2004).…”

“…We also identified the increased tendency of TG in homozygotes of rs6020612; the minor allele homozygotes were observed in only two individuals. Although this association was reported in other reports (Cheyssac et al, 2006;Spencer-Jones et al, 2005), the associated SNP had a higher frequency of minor allele homozygotes. Therefore, the association between PTPN1 and TG should be confirmed using other SNPs that have been previously reported.…”

Protein tyrosine phosphatase 1B is not a major susceptibility gene for type 2 diabetes mellitus or obesity among Pima Indians

“…In a study of white subjects, Bento et al observed associations between several non-coding singlenucleotide polymorphisms (SNPs) positioned across PTPN1 and type 2 diabetes [2], whereas, in a study of Hispanic American subjects, Palmer et al observed associations between several of the same SNPs and insulin sensitivity and/or fasting glucose levels [3]. Subsequent replication studies of these initial reports have provided weaker or negative results for associations with type 2 diabetes or related phenotypes [4][5][6]. In the current study, we sought to determine whether SNPs in PTPN1 have a role in susceptibility to type 2 diabetes or obesity in the Pima Indian population of Arizona.…”

“…Genotyping of SNPs Thirty-one previously analysed SNPs near or within PTPN1 [2][3][4]6] were genotyped by SNPlex (Applied Biosystems, Foster City, CA, USA) following the manufacture's protocol or by allelic discrimination PCR (Assays-by-Design Service; Applied Biosystems). Genotyping of the SNPs included 100 blind duplicate samples.…”