rs2267668
This is a intron variant variant in the PPARD gene.
▶Research that mentions this SNP (1)
▶The ENPP1 K121Q polymorphism determines individual susceptibility to the insulin-sensitising effect of lifestyle interventionAssociationN=1,563Müssig K. et al.(2010)· Diabetologia
In a study of 1,563 European ancestry participants at increased type 2 diabetes risk, the ENPP1 K121Q polymorphism (rs1044498) did not show cross-sectional association with insulin sensitivity. However, during a 9-month lifestyle intervention in 342 participants, minor allele (Q) carriers showed significantly impaired improvement in insulin sensitivity (p=0.0067 additive, p=0.0027 dominant), suggesting K121Q determines individual susceptibility to the insulin-sensitizing effects of lifestyle intervention.
About PPARD
This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) family. The encoded protein is thought to function as an integrator of transcriptional repression and nuclear receptor signaling. It may inhibit the ligand-induced transcriptional activity of peroxisome proliferator activated receptors alpha and gamma, though evidence for this effect is inconsistent. Expression of this gene in colorectal cancer cells may be variable but is typically relatively low. Knockout studies in mice suggested a role for this protein in myelination of the corpus callosum, lipid metabolism, differentiation, and epidermal cell proliferation. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Aug 2017]
View all PPARD variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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