The aim of this study was to investigate association of a missense mutation in plasma PAF acetylhydrolase (G994T) with intima media thickness (IMT) of the carotid arteries. One hundred and forty Japanese type 2 diabetic patients aged from 40 to 79 years without severe nephropathy were enrolled in this study. The genotype of the patients was determined by allele specific PCR. IMT of the carotid arteries of the subjects was recorded by B-mode ultrasound imaging. The patients were divided into two groups by genotyping, one carrying two wild alleles (wild group), and another carrying one or two mutant alleles (mutant group). Each group was further divided into two subgroups according to age; one subgroup consisted of 40s or 50s, and another consisted of 60s or 70s. The prevalence of the G994T mutation in the subjects was 28.6% (24.3% heterozygote, and 4.3% homozygote). IMT of the elderly patients of the mutant group was significantly greater (0.98 +/- 0.22 mm, n = 26) than of the elderly patients of the wild group (0.87 +/- 0.20 mm, n = 50, P = 0.0292). There was no significant difference in clinical characteristics between the two subgroups. The results of this study indicate that the missense mutation in plasma PAF acetylhydrolase is associated with development of atherosclerosis in the elderly.
