Fig. 2: rs11740584 and rs2299007 minor allele creates methylated CpG sites and alter KIF3A expression. | Nature Communications

Fig. 2: rs11740584 and rs2299007 minor allele creates methylated CpG sites and alter KIF3A expression.

From: Disease-associated KIF3A variants alter gene methylation and expression impacting skin barrier and atopic dermatitis risk

Fig. 2

Skin tape (a, b), and nasal epithelial cell (c, d), methylation levels at rs11740584 and rs2299007 CpG sites in homozygous and heterozygous alternate allele carriers. A one-way ANOVA was conducted to compare effects of genotype on methylation levels. Each panel includes n = 54 biologically independent samples examined over two independent experiments. Data are presented as mean values ± SD. e Experimental design of allele-specific gene expression illustrating the location of the SNPs, their linkage, and the KIF3A gene. f Fold-change in expression in nasal epithelial and primary keratinocyte cells are provided relative to the C allele. Data are presented as mean values ± SD of three individuals in technical quadruplicates examined over two independent experiments per tissue type. Linear mixed models were performed to access the expression difference between risk allele and reference allele. P values of two-sided testing were reported for all the tests. NEC = nasal epithelial cells. Source data are provided as a Source Data file.

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