A Single Nucleotide Polymorphism on Exon-4 of the Gene Encoding PPARδ Is Associated with Reduced Height in Adults and Children

Context: Peroxisome proliferator-activated receptor (PPAR)-δ is a nuclear transcription factor that plays a key role in many metabolic processes, including energy metabolism, and lipid and glucose metabolism. Candidate gene studies have identified a putative functional variant, rs2016520, in the gene encoding PPARδ (PPARD), which is associated in some studies with metabolic traits. In addition, this single-nucleotide polymorphism was associated with adult height in several whole-genome scans, but this association did not achieve whole genome significance. Objective: This study sought to determine whether PPARD variation influenced height. Design: Haplotype tagging analysis across PPARD was performed in about 11,000 individuals from the Wellcome Trust U.K. Type 2 Diabetes Case Control Collection (Go-DARTS2). Results: There was an association between rs2016520 and height in both patients with type 2 diabetes and controls without diabetes (combined P = 5 × 10−5). In a metaanalysis using published data from C...