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Am. J. Respir. Crit. Care Med., Volume 159, Number 3, March 1999, 974-979

Plasma Platelet-activating Factor Acetylhydrolase Deficiency in Japanese Patients with Asthma

NAGATO SATOH, KOICHIRO ASANO, KATSUHIKO NAOKI, KOUICHI FUKUNAGA, MAKIKO IWATA, MINORU KANAZAWA, and KAZUHIRO YAMAGUCHI

Cardiopulmonary Division, Department of Medicine, Keio University School of Medicine, Tokyo, Japan

Platelet-activating factor (PAF), a phospholipid with a wide range of proinflammatory actions, is immediately degraded and inactivated in vivo by PAF acetylhydrolase (PAF-AH). Surprisingly, 4% of the Japanese population lacks the extracellular isoform of this enzyme, plasma PAF-AH, due to a genetic missense (V279F) mutation. We studied the association of this mutation with asthma prevalence and phenotypes in the Japanese adult population. The allele frequency of V279F mutation was 18.6% in 279 patients with asthma (28.7% heterozygotes and 4.3% homozygotes) and 21.7% in 217 healthy subjects (32.3% heterozygotes and 5.5% homozygotes). V279F mutant allele prevalence was consistent regardless of asthma type (16.3% in atopic [n = 156] and 21.6% in nonatopic [n = 123]), or the severity of disease (21.7% in patients with mild [n = 97], 17.5% in those with moderate [n = 131], and 15.8% in those with severe [n = 51] asthma). Plasma PAF-AH activity was inversely proportional to the number of mutant alleles, and did not correlate with asthma prevalence, type, or severity. We concluded that plasma PAF-AH deficiency due to V279F mutation is not essential to the pathophysiology of asthma in the Japanese adult population.




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Copyright © 1999 American Thoracic Society 		  CCM abstracts