Figure 4 | Scientific Reports

Figure 4

From: Optimization, validation and initial clinical implications of a Luminex-based immunoassay for the quantification of Fragile X Protein from dried blood spots

Figure 4

FXP concentration is reduced in peripheral blood of individuals with FXS. (a) FXP concentration in all individuals across diagnostic categories from DBS eluate. Graphically males and females are separated into individual bars; however, they were grouped as a diagnostic category when analyzed statistically. FXP concentration is significantly lower in the FXS diagnostic group than PMC and TDC diagnostic groups (Mixed-effects analysis with Šídák's multiple comparisons test; main effect of diagnosis, p < 0.0001 F (1.900, 67.46) = 139.8; main effect of sex p < 0.0001 F (1, 110) = 21.67; interaction diagnosis x sex p < 0.0001, F (2, 71) = 27.30; p(FXS vs PMC) < 0.0001, p(FXS vs TDC) < 0.0001, p(PMC vs TDC) = 0.9882). (b) FXP expression is significantly lower in males with FXS than females with FXS (Mann–Whitney U = 20, n1 = 70 n2 = 33, p < 0.0001 two-tailed). There were no significant sex differences in FXP expression in PMC (Unpaired T Test, t(47) = 0.1016, p = 0.9195 two-tailed) or TDC (Mann–Whitney U = 130, n1 = 34 n2 = 11, p = 0.9582 two-tailed). Mean reported with error bars representing SEM. FXP Fragile X Protein, FXS Fragile X Syndrome, DBS Dried Blood Spot, PMC Premutation Carriers, TDC Typically Developing Controls, SEM Standard Error of the Mean, NS Not Significant, ****Indicates p < 0.0001.

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