Abstract
MEFV is the first identified autoinflammatory gene related to Familial Mediterranean Fever (FMF) disease. We previously the tested the hypothesize of epigenetic involvement in FMF, mainly based on the occurrence of FMF in patients without mutations and decreased MEFV transcripts in leukocyte samples independent from mutations. Our study showed that higher methylation level of MEFV second exon CpG island in FMF patients compared to healthy controls (p=0.049) and negative correlation between methylation and expression levels in leucocytes (cor=-0.29, p=0.041 in both groups, cor=-0.36, p=0.035 in FMF samples).
Highlights
MEFV is the first identified autoinflammatory gene related to Familial Mediterranean Fever (FMF) disease
We previously the tested the hypothesize of epigenetic involvement in FMF, mainly based on the occurrence of FMF in patients without mutations and decreased MEFV transcripts in leukocyte samples independent from mutations
Our study showed that higher methylation level of MEFV second exon CpG island in FMF patients compared to healthy controls (p=0.049) and negative correlation between methylation and expression levels in leucocytes
Summary
MEFV is the first identified autoinflammatory gene related to Familial Mediterranean Fever (FMF) disease. We previously the tested the hypothesize of epigenetic involvement in FMF, mainly based on the occurrence of FMF in patients without mutations and decreased MEFV transcripts in leukocyte samples independent from mutations. Our study showed that higher methylation level of MEFV second exon CpG island in FMF patients compared to healthy controls (p=0.049) and negative correlation between methylation and expression levels in leucocytes (cor=-0.29, p=0.041 in both groups, cor=-0.36, p=0.035 in FMF samples)
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