Deficiency of platelet-activating factor acetylhydrolase is a severity factor for asthma.
Asthma, a family of airway disorders characterized by airway inflammation, has an increasing incidence worldwide. Platelet-activating factor (PAF) may play a role in the pathophysiology of asthma. Its proinflammatory actions are antagonized by PAF acetylhydrolase. A missense mutation (V279F) in the PAF acetylhydrolase gene results in the complete loss of activity, which occurs in 4% of the Japanese population. We asked if PAF acetylhydrolase deficiency correlates with the incidence and severity of asthma in Japan. We found that the prevalence of PAF acetylhydrolase deficiency is higher in Japanese asthmatics than healthy subjects and that the severity of this syndrome is highest in homozygous-deficient subjects. We conclude that the PAF acetylhydrolase gene is a modulating locus for the severity of asthma.
Stafforini
D M
DM
Huntsman Cancer Institute, Program in Human Molecular Biology and Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, Utah 84112-5332, USA. diana.stafforini@hci.utah.edu
Numao
T
T
Tsodikov
A
A
Vaitkus
D
D
Fukuda
T
T
Watanabe
N
N
Fueki
N
N
McIntyre
T M
TM
Zimmerman
G A
GA
Makino
S
S
Prescott
S M
SM
D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; D000293:Adolescent; D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D001249:Asthma / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D001483:Base Sequence; D001665:Binding Sites; D002648:Child; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010741:Phospholipases A / Q000097:blood / Q000172:deficiency*; D011110:Polymorphism, Genetic
D010741:Phospholipases A; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase