ArticleBMC medical genetics2006
Analysis of common PTPN1 gene variants in type 2 diabetes, obesity and associated phenotypes in the French population.
Article in BMC medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 56 citations in OpenAlex.
- Multimodal fusion of brain imaging and proteomics reveals a brain-body pathway linking depression and metabolic dysfunction.Psychological medicine · 2026Article
- Metabolic gene polymorphisms and type 2 diabetes mellitus risk: A systematic review and meta-analyses.Experimental and therapeutic medicine · 2026Article
- Protein tyrosine phosphatase 1B in metabolic diseases and drug development.Nature reviews. Endocrinology · 2024Review
- Gene-environment interactions in the associations of PFAS exposure with insulin sensitivity and beta-cell function in a Faroese cohort followed from birth to adulthood.Environmental research · 2023Article
- Association of protein tyrosine phosphatase 1B gene polymorphism with the effects of weight reduction therapy on bodyweight and glycolipid profiles in obese patients.Journal of diabetes investigation · 2021Article
- Identification of PTP1B regulators fromIn silico pharmacology · 2021Article
- Obesity pharmacotherapy: current perspectives and future directions.Current cardiology reviews · 2013Review
- Variants of insulin-signaling inhibitor genes in type 2 diabetes and related metabolic abnormalities.International journal of genomics · 2013Article
- Skeletal muscle protein tyrosine phosphatase 1B regulates insulin sensitivity in African Americans.Diabetes · 2012Article
- PTP1B deficiency exacerbates inflammation and accelerates leukocyte trafficking in vivo.Journal of immunology (Baltimore, Md. : 1950) · 2012Article
- The Genetics of PTPN1 and Obesity: Insights from Mouse Models of Tissue-Specific PTP1B Deficiency.Journal of obesity · 2012Article
- Hepatic PTP1B Deficiency: The Promise of a Treatment for Metabolic Syndrome?Journal of clinical metabolism & diabetes · 2010Article
- Expression-based network biology identifies alteration in key regulatory pathways of type 2 diabetes and associated risk/complications.PloS one · 2009Article
- Insulin signaling regulating genes: effect on T2DM and cardiovascular risk.Nature reviews. Endocrinology · 2009Review
- Protein tyrosine phosphatase 1B, a major regulator of leptin-mediated control of cardiovascular function.Circulation · 2009Article
- Functional and genetic analysis in type 2 diabetes of liver X receptor alleles--a cohort study.BMC medical genetics · 2009Article
- Article
- Applying novel genome-wide linkage strategies to search for loci influencing type 2 diabetes and adult height in American Samoa.Human biology · 2008Article
- Protein tyrosine phosphatase 1B is not a major susceptibility gene for type 2 diabetes mellitus or obesity among Pima Indians.Diabetologia · 2007Article
- Genes, diet and type 2 diabetes mellitus: a review.The review of diabetic studies : RDS · 2007Article
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Authors and funding
10 authors at 6 institutions in 2 countries.
Funding
Abstract
backgroundThe 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.
methodsFourteen single nucleotide polymorphisms (SNPs) spanning the PTPN1 locus were selected from previous association reports and from HapMap linkage disequilibrium data. SNPs were evaluated for association with T2D in two case-control groups with 1227 cases and 1047 controls. Association with moderate and severe obesity was also tested in a case-control study design. Association with metabolic traits was evaluated in 736 normoglycaemic, non-obese subjects from a general population. Five SNPs showing a trend towards association with T2D, obesity or metabolic parameters were investigated for familial association.
resultsFrom 14 SNPs investigated, only SNP rs914458, located 10 kb downstream of the PTPN1 gene significantly associated with T2D (p = 0.02 under a dominant model; OR = 1.43 [1.06-1.94]) in the combined sample set. SNP rs914458 also showed association with moderate obesity (allelic p = 0.04; OR = 1.2 [1.01-1.43]). When testing for association with metabolic traits, two strongly correlated SNPs, rs941798 and rs2426159, present multiple consistent associations. SNP rs2426159 exhibited evidence of association under a dominant model with glucose homeostasis related traits (p = 0.04 for fasting insulin and HOMA-B) and with lipid markers (0.02 = p = 0.04). Moreover, risk allele homozygotes for this SNP had an increased systolic blood pressure (p = 0.03). No preferential transmission of alleles was observed for the SNPs tested in the family sample.
conclusionIn our study, PTPN1 variants showed moderate association with T2D and obesity. However, consistent associations with metabolic variables reflecting insulin resistance and dyslipidemia are found for two intronic SNPs as previously reported. Thus, our data indicate that PTPN1 variants may modulate the lipid profile, thereby influencing susceptibility to metabolic disease.
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