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Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations

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Abstract

Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder caused by mutations in the MEFV gene. The disease is especially common among Armenian, Turkish, Jewish and Middle East Arab populations. To identify the frequency and the spectrum of common MEFV mutations in different Iranian populations, we investigated a cohort of 208 unselected asymptomatic individuals and 743 FMF patients. Nine hundred and fifty-one samples were analysed for the presence of 12 MEFV mutations by PCR and reverse-hybridization (FMF StripAssay, ViennaLab, Vienna, Austria). Confirmatory dideoxy sequencing of all MEFV gene exons was performed for 39 patients. Fifty-seven (27.4%) healthy individual carried mutant MEFV alleles. Three hundred and ninety-one (52.6%) FMF patients were found positive for either one (172/743; 23.1%), two or three MEFV mutations. Using dideoxy sequencing, three novel variants, A66P, R202W and H300Q, could be identified. Our analysis revealed an allele frequency and carrier rate of 15.6 and 27.4%, respectively, among healthy Iranians. Still moderate compared to neighbouring Armenia, but higher than in Turkey or Iraq, these data suggest that FMF is remarkably common among Iranian populations. E148Q was most frequent in the group of healthy individuals, whereas M694V was the most common mutation among FMF patients, thereby corroborating previous studies on MEFV mutational spectra in the Middle East. Accordingly, MEFV mutations are frequent in healthy Iranian individuals across different ethnic groups. Based on this finding, the awareness for FMF and the implementation of augmented carrier screening programmes considering the multiethnic nature of the Iranian population should be promoted.

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Acknowledgement

We thank the Iranian FMF patients, their clinicians and healthy individuals for their consent and contributions.

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Authors and Affiliations

  1. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Koodakyar Alley, Daneshjoo Blvd., Evin St., 1985713834, Tehran, Iran

    MARYAM BEHESHTIAN, KIMIA KAHRIZI & HOSSEIN NAJMABADI

  2. Molecular Biology Division, Kariminejad-Najmabadi Pathology and Genetics Center, #2, Fourth St., Hasan Seyf Ave., Sanat Sq., Shahrak Gharb, Tehran, 14667-13713, Iran

    NASIM IZADI, ELHAM PARSI MEHR, MARYAM ROSTAMI, MASOUMEH HOSSEINI, MARYAM AZAD, MONA MONTAJABINIAT, ARIANA KARIMINEJAD & HOSSEIN NAJMABADI

  3. ViennaLab Diagnostics GmbH, Gaudenzdorfer Guertel 43-45, A-1120, Vienna, Austria

    GERNOT KRIEGSHAUSER, STEFAN NEMETH & CHRISTIAN OBERKANINS

  4. Institute of Clinical Chemistry and Laboratory Medicine, General Hospital Steyr, Sierninger Straße 170, A-4400, Steyr, Austria

    GERNOT KRIEGSHAUSER

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  1. MARYAM BEHESHTIAN
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  2. NASIM IZADI
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  3. GERNOT KRIEGSHAUSER
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  4. KIMIA KAHRIZI
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  5. ELHAM PARSI MEHR
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  6. MARYAM ROSTAMI
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  7. MASOUMEH HOSSEINI
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  8. MARYAM AZAD
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  9. MONA MONTAJABINIAT
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  10. ARIANA KARIMINEJAD
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  11. STEFAN NEMETH
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  12. CHRISTIAN OBERKANINS
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  13. HOSSEIN NAJMABADI
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Corresponding authors

Correspondence to CHRISTIAN OBERKANINS or HOSSEIN NAJMABADI.

Additional information

[Beheshtian M., Izadi N., Kriegshauser G., Kahrizi K., Parsi Mehr E., Rostami M., Hosseini M., Azad M., Montajabiniat M., Kariminejad A., Nemeth S., Oberkanins C. and Najmabadi H. 2016 Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations. J. Genet. 95, xx–xx]

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Table 1. Overview of published MEFV mutation frequencies.
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BEHESHTIAN, M., IZADI, N., KRIEGSHAUSER, G. et al. Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations. J Genet 95, 667–674 (2016). https://doi.org/10.1007/s12041-016-0682-6

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  • DOI: https://doi.org/10.1007/s12041-016-0682-6

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