Study on MEFV Gene Methylation and Expression in Familial Mediterranean Fever
Author Information
Author(s): Kirectepe Asli K, Kasapcopur Ozgur, Arisoy Nil, Celikyapi Erdem Gokce, Hatemi Gulen, Ozdogan Huri, Tahir Turanli Eda
Primary Institution: Istanbul Technical University and Istanbul University
Hypothesis
The MEFV transcript level in FMF patients correlates with its methylation level.
Conclusion
The study confirmed that reduced MEFV expression is associated with FMF, and higher methylation levels may play a role in this relationship.
Supporting Evidence
- MEFV expression was significantly lower in FMF patients compared to healthy controls.
- Methylation level of exon 2 of MEFV was slightly higher in FMF patients.
- A negative correlation between MEFV expression and methylation levels was observed.
Takeaway
This study looked at how a gene related to a disease called Familial Mediterranean Fever behaves in patients, finding that changes in the gene's activity might be linked to its chemical modifications.
Methodology
The study involved 51 FMF patients and 21 healthy controls, using quantitative real-time PCR and bisulfite sequencing to assess gene expression and methylation levels.
Limitations
The study's sample size may be underpowered to detect significant differences, and the analysis was limited to total leukocytes without considering different leukocyte types.
Participant Demographics
51 FMF patients (26 female, 25 male) and 21 healthy controls (8 female, 13 male), mean ages 10.3 and 8 years respectively.
Statistical Information
P-Value
0.031
Confidence Interval
95% CI: 1.7302 < O.R. < 14.7894
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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