Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression

Figures

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  Figure 1. Linkage disequilibrium (LD) block for (fibrillin-1) FBN1 expression transregulator region at 11q22.3: (a) Cytogenetic localization and sequence coordinates of lead single nucleotide polymorphisms (SNPs) in red; (b) Regional LD map. Data were extracted from HapMap using Haploview. Linkage disequilibrium was measured as r2 values which range from 0 (no correlation) to 1 (complete correlation). SNPs in complete LD (r2 = 1) with SNPs identified by eQTL analysis are highlighted in yellow.

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  Figure 2. Correlation of expression levels between FBN1 SLN and SNX7-ps1 gene. (a) Gene expression levels were assessed using digital droplet PCR (ddPCR). Positive correlation of expression was observed between the nearest gene of the lead SNP, SLN and SNX7-ps1 (r2 = 0.86, p-value < 0.0001). (b) Correlation plot between FBN1 and SLN expression. No correlation was found (r2 = 0.0009, p-value = 0.56). (c) Correlation plot between FBN1 and SNX7-ps1 expression. No correlation was found (r2 < 0.0001, p-value = 0.56).

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  Figure 3. Effect of A23187 on gene expression. Patients’ skin fibroblasts were incubated with DMSO (untreated), 1 µM or 10 µM of A23187 for 4 h, 24 h, and 48 h. (a) FOS gene expression. (b) FBN1 gene expression after treatment with A23187 (Control vs. 4 h: p-value = 0.0082; Control vs. 24 h: p-value < 0.0001; Control vs. 48 h: p-value < 0.0001). (c) FBN1 gene expression according to rs11212346 genotype (Control vs. 4 h: p-value = 0.0906; Control vs. 24 h: p-value = 0.0075; Control vs. 48 h: p-value < 0.0001). Genotype: [CC] (n= number of subject); [CT] (n); [TT] (n). [NS] p-value > 0.05; ** p-value < 0.01; *** p-value < 0.001; **** p-value < 0.0001.