TY - JOUR VL - 54 IS - 2 TI - Peroxisome Proliferator-activated receptor alpha gene variation influences age of onset and progression of type 2 diabetes EP - 586 A1 - Flavell, D.M. A1 - Ireland, H. A1 - Stephens, J.W. A1 - Hawe, E. A1 - Acharya, J. A1 - Mather, H. A1 - Hurel, S.J. A1 - Humphries, S.E. ID - discovery382 SN - 0012-1797 SP - 582 Y1 - 2005/02// UR - http://diabetes.diabetesjournals.org/ N1 - Copyright © 2005 American Diabetes Association. From Diabetes, vol. 54, 2005; 582-586. Reprinted with permission from The American Diabetes Association. JF - Diabetes AV - public N2 - Dysregulation of fatty acid metabolism is important in the pathogenesis of type 2 diabetes. Peroxisome proliferator-activated receptor (PPAR) is a master regulator of fatty acid catabolism, and PPAR activators delay the onset of type 2 diabetes. We examined association between three PPAR gene polymorphisms (an AC variant in intron 1, the L162V variant, and the intron 7 GC variant) and age at diagnosis of type 2 diabetes in 912 Caucasian type 2 diabetic subjects. Individually, PPAR gene variants did not influence age at diagnosis, but in combination, the rare alleles of both the intron 1 AC (P < 0.001) and intron 7 GC (P = 0.025) variants synergistically lowered age at diagnosis (interaction P < 0.001). Overall, the PPAR haplotype signficantly influenced age at diagnosis (P = 0.027), with the C-L-C and C-V-C haplotypes (intron 1-L162V-intron 7) accelerating onset of diabetes by 5.9 (P = 0.02) and 10 (P = 0.03) years, respectively, as compared with the common A-L-G haplotype, and was associated with an odds ratio for early-onset diabetes (age at diagnosis 45 years) of 3.75 (95% CI 1.65?8.56, P = 0.002). Intron 1 C-allele carriers also progressed more rapidly to insulin monotherapy (AA 9.4 ± 1.5 and AC + CC 5.3 ± 1.1 years, P = 0.002). These data indicate that PPAR gene variation influences the onset and progression of type 2 diabetes. ER -