ArticleBiochemical genetics2026
Replication Study of ENPP1 Variants and Haplotypes Associated with Severe Obesity in a Greek Adult Population.
Article in Biochemical genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
The ENPP1 (Ectonucleotide pyrophosphatase/phosphodiesterase 1) gene, encoding a protein that negatively modulates insulin receptor activation, remains relatively understudied in obesity genetics. K121Q (rs1044498; chr6:132,172,368: A > C) and other ENPP1 genetic variants (rs1799774; chr6:132,203,471: insT> delT and rs7754561; chr6:132,212,694: A > G), as well as the risk haplotype Q-delT-G have been investigated for their association with obesity risk mostly in populations from Central and Northern Europe, yielding controversial findings. Given the significance of reproducibility in genetic association studies and the scarcity of data from Southern Europe, we performed a case-control replication study to test the hypothesis that ENPP1 variants and haplotypes are associated with severe obesity in the underexplored and high-risk Greek population. A total of 979 Greek individuals (mean age: 47.6 ± 12.5years old), including 510 adults with severe obesity (BMI≥35Kg/m
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