ArticleDiabetologia2007
ENPP1 K121Q polymorphism and obesity, hyperglycaemia and type 2 diabetes in the prospective DESIR Study.
Article in Diabetologia, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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13 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- Identification of shared genetic susceptibility locus for coronary artery disease, type 2 diabetes and obesity: a meta-analysis of genome-wide studies.Cardiovascular diabetology · 2012Pooled it
- Replication Study of ENPP1 Variants and Haplotypes Associated with Severe Obesity in a Greek Adult Population.Biochemical genetics · 2026Article
- Influence of Single Nucleotide Polymorphism ofLife (Basel, Switzerland) · 2021Article
- Evaluation of NPP1 as a Novel Biomarker of Coronary Artery Disease: A Pilot Study in Human Beings.Advanced pharmaceutical bulletin · 2018Article
- Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes.Diabetologia · 2013Article
- Article
- Insulin signaling regulating genes: effect on T2DM and cardiovascular risk.Nature reviews. Endocrinology · 2009Review
- Genetic variants of the ENPP1/PC-1 gene are associated with hypertriglyceridemia in male subjects.Metabolic syndrome and related disorders · 2009Article
- Recent progress in the genetics of common obesity.British journal of clinical pharmacology · 2009Review
- Possible role for ENPP1 polymorphism in obesity but not for INSIG2 and PLIN variants.Endocrine · 2009Article
- Association of the Q121 variant of ENPP1 gene with decreased kidney function among patients with type 2 diabetes.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2009Article
- Article
- Analysis of novel risk loci for type 2 diabetes in a general French population: the D.E.S.I.R. study.Journal of molecular medicine (Berlin, Germany) · 2008Article
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Authors and funding
9 authors at 6 institutions in 2 countries.
Funding
Abstract
aims/hypothesisWe assessed the predictive value of ectonucleotide pyrophosphatase/phosphodiesterase 1 gene (ENPP1) SNPs with regard to the risk of developing obesity and/or type 2 diabetes in a large French general population.
methodsWe genotyped the ENPP1 SNPs K121Q (rs1044498), IVS20delT-11 (rs1799774) and A/G+1044TGA (rs7754561) in 5,153 middle-aged participants of the Data from an Epidemiological Study on the Insulin Resistance Syndrome (DESIR) cohort.
resultsAt baseline, the K121Q polymorphism was not associated either with BMI (p = 0.98) or with class I obesity (odds ratio [OR] 0.99, p = 0.81), but showed a borderline association with class II obesity (OR 1.65, p = 0.02). The K121Q variant was not associated with any trait during the 9-year follow-up. Pooled analyses both at baseline and at follow-up failed to show any association with hyperglycaemia (OR 1.08, p = 0.28) or type 2 diabetes (OR 1.15, p = 0.38). However, we did show an association of the Q121 allele with the risk of hyperglycaemia (OR 1.45, p = 0.001; n = 265) and type 2 diabetes (OR 1.65, p = 0.01; n = 103) in participants reporting a family history of type 2 diabetes. These results did not remain significant after a Bonferroni correction. The IVS20delT-11 and A/G+1044TGA polymorphisms and the three-allele risk haplotype (K121Q, IVS20delT-11 and A-->G+1044TGA [QdelTG]) were not associated with any trait, either at baseline or at follow-up. CONCLUSIONS/
interpretationIn a general French population we did not find an association of the QdelTG risk haplotype with adult obesity and type 2 diabetes. We detected nominal evidence of association between the K121Q polymorphism and both severe adult obesity at baseline and the risk of hyperglycaemia or type 2 diabetes in participants with a family history of type 2 diabetes in pooled analyses both at baseline and follow-up.
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