ArticleDiabetes2008
Haplotype structure of the ENPP1 Gene and Nominal Association of the K121Q missense single nucleotide polymorphism with glycemic traits in the Framingham Heart Study.
Article in Diabetes, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
24 citing papers in PubMed, 2 syntheses or guidelines pooled it, 43 citations in OpenAlex.
- A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations.The Journal of allergy and clinical immunology · 2013Pooled it
- A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.Nature genetics · 2012Pooled it
- The association of ENPP1 K121Q with diabetes incidence is abolished by lifestyle modification in the diabetes prevention program.The Journal of clinical endocrinology and metabolism · 2009 · on this mapTrial
- Coronary Heart Disease in Type 2 Diabetes Mellitus: Genetic Factors and Their Mechanisms, Gene-Gene, and Gene-Environment Interactions in the Asian Populations.International journal of environmental research and public health · 2022Review
- Quantile-Dependent Heritability of Glucose, Insulin, Proinsulin, Insulin Resistance, and Glycated Hemoglobin.Lifestyle genomics · 2022Article
- Type 2 diabetes is associated with the MTNR1B gene, a genetic bridge between circadian rhythm and glucose metabolism, in a Turkish population.Molecular biology reports · 2021Article
- ENPP1 and ESR1 genotypes associated with subclassifications of craniofacial asymmetry and severity of temporomandibular disorders.American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics · 2017Article
- Variation in glucose homeostasis traits associated with P2RX7 polymorphisms in mice and humans.The Journal of clinical endocrinology and metabolism · 2015Article
- Deficiency of the bone mineralization inhibitor NPP1 protects mice against obesity and diabetes.Disease models & mechanisms · 2014Article
- Joint effect of insulin signaling genes on cardiovascular events and on whole body and endothelial insulin resistance.Atherosclerosis · 2013Article
- Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene.The British journal of dermatology · 2012Article
- Genetic associations with metabolic syndrome and its quantitative traits by race/ethnicity in the United States.Metabolic syndrome and related disorders · 2011Article
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- ENPP1/PC-1 K121Q polymorphism and genetic susceptibility to type 2 diabetes in North Indians.Molecular and cellular biochemistry · 2010Article
- Hip geometry variation is associated with bone mineralization pathway gene variants: The Framingham Study.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2010Article
- Heritability of insulin sensitivity and lipid profile depend on BMI: evidence for gene-obesity interaction.Diabetologia · 2009Article
- Insulin signaling regulating genes: effect on T2DM and cardiovascular risk.Nature reviews. Endocrinology · 2009Review
- Possible role for ENPP1 polymorphism in obesity but not for INSIG2 and PLIN variants.Endocrine · 2009Article
- Genetic susceptibility to type 2 diabetes and implications for therapy.Journal of diabetes science and technology · 2009Review
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 1 country.
Funding
Abstract
objectiveA recent meta-analysis demonstrated a nominal association of the ectonucleotide pyrophosphatase phosphodiesterase 1 (ENPP1) K-->Q missense single nucleotide polymorphism (SNP) at position 121 with type 2 diabetes. We set out to confirm the association of ENPP1 K121Q with hyperglycemia, expand this association to insulin resistance traits, and determine whether the association stems from K121Q or another variant in linkage disequilibrium with it. RESEARCH DESIGN AND
methodsWe characterized the haplotype structure of ENPP1 and selected 39 tag SNPs that captured 96% of common variation in the region (minor allele frequency > or =5%) with an r(2) value > or =0.80. We genotyped the SNPs in 2,511 Framingham Heart Study participants and used age- and sex-adjusted linear mixed effects (LME) models to test for association with quantitative metabolic traits. We also examined whether interaction between K121Q and BMI affected glycemic trait levels.
resultsThe Q allele of K121Q (rs1044498) was associated with increased fasting plasma glucose (FPG), A1C, fasting insulin, and insulin resistance by homeostasis model assessment (HOMA-IR; all P = 0.01-0.006). Two noncoding SNPs (rs7775386 and rs7773477) demonstrated similar associations, but LME models indicated that their effects were not independent from K121Q. We found no association of K121Q with obesity, but interaction models suggested that the effect of the Q allele on FPG and HOMA-IR was stronger in those with a higher BMI (P = 0.008 and 0.01 for interaction, respectively).
conclusionsThe Q allele of ENPP1 K121Q is associated with hyperglycemia and insulin resistance in whites. We found an adiposity-SNP interaction, with a stronger association of K121Q with diabetes-related quantitative traits in people with a higher BMI.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.