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Background  Peroxisome proliferator-activated receptor delta (PPARD) is nuclear hormone receptor involved in colorectal cancer (CRC) differentiation and progression. The purpose of this study was to determine prevalence and spectrum of variants in the  PPARD  gene in CRC, and their contribution to clinicopathological endpoints.    Methods and Findings  Direct sequencing of the  PPARD  gene was performed in 303 primary tumors, in blood samples from 50 patients with ≥3 affected first-degree relatives, 50 patients with 2 affected first-degree relatives, 50 sporadic patients, 360 healthy controls, and in 6 colon cancer cell lines. Mutation analysis revealed 22 different transversions, 7 of them were novel. Three of all variants were somatic (c.548A>G, p.Y183C, c.425-9C>T, and c.628-16G>A). Two missense mutations (p.Y183C and p.R258Q) were pathogenic using  in silico  predictive program. Five recurrent variants were detected in/adjacent to the exons 4 (c.1-87T>C, c.1-67G>A, c.130+3G>A, and c.1-101-8C>T) and exon 7 (c.489T>C). Variant c.489C/C detected in tumors was correlated to worse differentiation ( P  = 0.0397).    Conclusions  We found 7 novel variants among 22 inherited or acquired  PPARD  variants. Somatic and/or missense variants detected in CRC patients are rare but indicate the clinical importance of the  PPARD  gene.

Variants of the PPARD Gene and Their Clinicopathological Significance in Colorectal Cancer