Peroxisome Proliferator-activated Receptor - Genetics

Genetics

The three main forms are transcribed from different genes:

• PPARα - chromosome 22q12-13.1 (OMIM 170998)
• PPARβ/δ - chromosome 6p21.2-21.1 (OMIM 600409)
• PPARγ - chromosome 3p25 (OMIM 601487).

Hereditary disorders of all PPARs have been described, generally leading to a loss in function and concomitant lipodystrophy, insulin resistance, and/or acanthosis nigricans. Of PPARγ, a gain-of-function mutation has been described and studied (Pro12Ala) which decreased the risk of insulin resistance; it is quite prevalent (allele frequency 0.03 - 0.12 in some populations). In contrast, pro115gln is associated with obesity. Some other polymorphisms have high incidence in populations with elevated body mass indexes.