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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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E148Q variant: a familial Mediterranean fever-causing mutation or a sequence variant?

Elham Orouk Awaad1,2, Lana Khoury1,2, Joeri W van Straalen3

  • 1Department of Pediatrics, Lady Davis Carmel Medical Center, Haifa, Israel.

European Journal of Pediatrics
|August 14, 2024
PubMed
Summary

The p.E148Q variant in Familial Mediterranean Fever (FMF) is linked to mild to moderate disease severity, particularly in specific ethnicities. Colchicine treatment effectively reduced CRP levels in patients with this FMF variant.

Keywords:
DruzeEthnicityFMFFamilial Mediterranean feverp.E148Qp.V726A

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Area of Science:

  • Genetics
  • Immunology
  • Autoinflammatory Diseases

Background:

  • Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disease caused by MEFV gene mutations.
  • The pathogenic role of the p.E148Q variant in FMF remains debated, with varying prevalence across ethnic groups.

Purpose of the Study:

  • To assess clinical characteristics and FMF severity in patients homozygous for the p.E148Q variant.
  • To evaluate the impact of the co-occurring p.V726A variant in these patients.

Main Methods:

  • Retrospective cohort study of FMF patients with p.E148Q/p.E148Q or p.E148Q/p.E148Q + p.V726A variants.
  • Disease severity assessed using the Tel Hashomer Key to Severity Score.
  • Analysis of electronic medical records from Carmel Medical Center, Israel.

Main Results:

  • 61 FMF patients included; 72% were of Druze ethnicity.
  • Most patients (65.5%) had mild FMF, 31.1% had moderate FMF; no severe cases reported.
  • Colchicine treatment significantly reduced C-reactive protein (CRP) levels in all patients.

Conclusions:

  • The p.E148Q variant, alone or with p.V726A, is associated with mild to moderate FMF severity, supporting its pathogenic role in specific ethnicities.
  • Findings aid in understanding the clinical significance of the p.E148Q variant and guide colchicine treatment decisions.