Figure 2.

(A) Expression of selected genes in a larger sample set trends in the same direction as in arrays by quantitative RT-PCR, but both fold-changes and significance are reduced compared to the more limited sample set. The exception is CYP1B1, in which both fold change and significance are maintained. Expression is normalized to that of beta-actin and then to expression level in non-carriers; p-values are by Kruskal-Wallis. (B) Expression of CYP1B1 is lower in female, but not male, mutation carriers with PAH compared to unaffected carriers and non-carriers. n = number of individuals in category; * = p < .01 for sex-specific effect in disease by two-way ANOVA on log-transformed values.