Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups (original) (raw)

• Short Report
• Published: 15 June 2000
• N Magal1,
• T Shohat1,
• R Lotan1,
• S Koman1,
• A Oron1,
• Y Danon2,
• G J Halpern1,
• Y Lifshitz3 &
• …
• M Shohat1

European Journal of Human Genetics volume 8, pages 307–310 (2000)Cite this article

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Abstract

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterised by recurrent attacks of inflammation of serosal membranes. Amyloidosis leading to renal failure is the most severe complication in untreated patients. In Israel FMF is most frequent among Jews of North African origin. Recently the causative gene (MEFV) has been found and the common mutations characterised. The aim of this study was to investigate the carrier rates of the common MEFV mutations among 400 healthy members of four different ethnic groups (100 in each group) in Israel, and to compare the distribution of the different mutations between FMF carriers and patients. We found a high frequency of carriers among Jews from the various ethnic groups. In North African Jews it was 22%, in Iraqi Jews 39%, in Ashkenazi Jews 21%, and in Iranian Jews 6%. The distribution of the four most common MEFV mutations among healthy individuals (M694V 29%, V726A 16%, M680I 2% and E148Q 53%) was significantly different (P < 0.003) from that found in patients (M694V 84.4%, V726A 9.0%, M680I 0% and E148Q 6.6%). Six healthy asymptomatic individuals were found to carry mutations in both alleles: two homozygotes for E148Q and four compound heterozygotes E148Q/other. These results demonstrate a very high carrier rate among all Jewish ethnic groups. They confirm that mutation E148Q is associated with a milder phenotype, which explains the lower prevalence of FMF among the Ashkenazi and Iraqi Jews. This study raises the question of the need for molecular screening for M694V homozygotes in the Israeli North African Jewish community

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Authors and Affiliations

1. Department of Medical Genetics, FMRC, Schneider Children's Medical Center of Israel, and Rabin Medical Center, Israel
   N Stoffman, N Magal, T Shohat, R Lotan, S Koman, A Oron, G J Halpern & M Shohat
2. Kipper Institute of Immunology, Schneider Children's Medical Center of Israel, Israel
   Y Danon
3. Maternal Health Center, Kupat Holim Klalit, Ramla, and Sackler School of Medicine, Tel Aviv University, Israel
   Y Lifshitz

Authors

1. N Stoffman
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2. N Magal
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3. T Shohat
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4. R Lotan
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5. S Koman
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6. A Oron
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7. Y Danon
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8. G J Halpern
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9. Y Lifshitz
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10. M Shohat
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Correspondence toM Shohat.

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Stoffman, N., Magal, N., Shohat, T. et al. Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups.Eur J Hum Genet 8, 307–310 (2000). https://doi.org/10.1038/sj.ejhg.5200446

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• Received: 21 June 1999
• Revised: 21 October 1999
• Accepted: 02 November 1999
• Published: 15 June 2000
• Issue Date: 01 April 2000
• DOI: https://doi.org/10.1038/sj.ejhg.5200446

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