Effect of sex and haplotype on plasma tryptase levels in healthy adults

Background: The total level of alpha-tryptase and beta-tryptase in serum or plasma is used as a clinical indicator of the mast cell burden. Objective: The effect of the tryptase haplotype and of sex on the total tryptase level of healthy individuals was determined. Methods: A novel hot-stop PCR technique was used to determine the tryptase genotype, and a standard fluoroenzyme immunoassay was used to measure total plasma tryptase levels in 106 healthy subjects. Mx modeling and the QTL association routine of Mendel 5.0 were used to analyze the data. Results: Tryptase haplotypes exhibit a 1 (betaalpha/betaalpha):2 (betabeta/betabeta) distribution, monomorphic for beta at 1 position and allelic for beta and alpha at the other position. The betaalpha haplotype has a frequency of 0.49. The Bet haplotype increases total tryptase levels by 0.5 ng/mL from the overall mean, whereas female sex increases the level by 0.2 ng/mL from the mean. Conclusion: The tryptase haplotype and sex each have a statistically significant effect on the total plasma tryptase level of healthy subjects.