The carrier rate and spectrum of MEFV gene mutations in central and southeastern European populations

Maruša Debeljak, Nataša Toplak, Nora Abazi, Beatrix Szabados, Velma Mulaosmanović, Jelena Radović, Daša Perko, Jelena Vojnović, Tamas Constantin, Dafina Kuzmanovska, Tadej Avčin

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Abstract

OBJECTIVES: Familial Mediterranean fever (FMF) is an autosomal-recessive disorder caused by mutations in MEFV gene. Eastern Mediterranean populations have the highest number of carriers, whereas western Mediterranean populations are less frequently affected. The aim of this study was to determine the carrier rate and spectrum of MEFV gene mutations in apparently healthy populations and in suspected FMF patients from central and southeastern European (CSEE) countries.

METHODS: We screened 507 apparently healthy persons from 5 CSEE countries. Exons 2 and 10 of the MEFV gene were PCR amplified and subsequently sequenced with ABI prism310 genetic analyser. Six most common mutations in the MEFV gene were tested: V726A, K695R, M694V, M694I, M680I in exon 10, and E148Q in exon 2. In suspected FMF patients we screened all MEFV exons in selected cases.

RESULTS: The overall carrier frequency of all MEFV mutations was higher than expected (9.3%). In the whole cohort we did not find any apparently healthy persons with two mutations. Heterozygous mutations were found in apparently healthy subjects from different CSEE countries as follows: Macedonia 16%, Serbia 11%, Bosnia and Herzegovina 8%, Slovenia 6% and Hungary 5%. The most common mutation in healthy controls was K695R, appearing in 40% of mutated alleles. The most common mutation in suspected FMF patients was M694V, followed by K695R.

CONCLUSIONS: We found a higher than expected carrier rate of MEFV gene mutations in populations from CSEE countries. It is interesting to note that 40% of detected carriers carry the K695R mutation.

Original languageEnglish
Pages (from-to)S19-S23
JournalClinical and Experimental Rheumatology
Volume33
Issue number6
Publication statusPublished - Nov 1 2015

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Mutation
Familial Mediterranean Fever
Population
Genes
Exons
Bosnia and Herzegovina
Slovenia
Serbia
Hungary
Healthy Volunteers
Alleles
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Debeljak, M., Toplak, N., Abazi, N., Szabados, B., Mulaosmanović, V., Radović, J., ... Avčin, T. (2015). The carrier rate and spectrum of MEFV gene mutations in central and southeastern European populations. Clinical and Experimental Rheumatology, 33(6), S19-S23.

The carrier rate and spectrum of MEFV gene mutations in central and southeastern European populations. / Debeljak, Maruša; Toplak, Nataša; Abazi, Nora; Szabados, Beatrix; Mulaosmanović, Velma; Radović, Jelena; Perko, Daša; Vojnović, Jelena; Constantin, Tamas; Kuzmanovska, Dafina; Avčin, Tadej.

In: Clinical and Experimental Rheumatology, Vol. 33, No. 6, 01.11.2015, p. S19-S23.

Research output: Contribution to journalArticle

Debeljak, M, Toplak, N, Abazi, N, Szabados, B, Mulaosmanović, V, Radović, J, Perko, D, Vojnović, J, Constantin, T, Kuzmanovska, D & Avčin, T 2015, 'The carrier rate and spectrum of MEFV gene mutations in central and southeastern European populations', Clinical and Experimental Rheumatology, vol. 33, no. 6, pp. S19-S23.
Debeljak M, Toplak N, Abazi N, Szabados B, Mulaosmanović V, Radović J et al. The carrier rate and spectrum of MEFV gene mutations in central and southeastern European populations. Clinical and Experimental Rheumatology. 2015 Nov 1;33(6):S19-S23.
Debeljak, Maruša ; Toplak, Nataša ; Abazi, Nora ; Szabados, Beatrix ; Mulaosmanović, Velma ; Radović, Jelena ; Perko, Daša ; Vojnović, Jelena ; Constantin, Tamas ; Kuzmanovska, Dafina ; Avčin, Tadej. / The carrier rate and spectrum of MEFV gene mutations in central and southeastern European populations. In: Clinical and Experimental Rheumatology. 2015 ; Vol. 33, No. 6. pp. S19-S23.
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abstract = "OBJECTIVES: Familial Mediterranean fever (FMF) is an autosomal-recessive disorder caused by mutations in MEFV gene. Eastern Mediterranean populations have the highest number of carriers, whereas western Mediterranean populations are less frequently affected. The aim of this study was to determine the carrier rate and spectrum of MEFV gene mutations in apparently healthy populations and in suspected FMF patients from central and southeastern European (CSEE) countries.METHODS: We screened 507 apparently healthy persons from 5 CSEE countries. Exons 2 and 10 of the MEFV gene were PCR amplified and subsequently sequenced with ABI prism310 genetic analyser. Six most common mutations in the MEFV gene were tested: V726A, K695R, M694V, M694I, M680I in exon 10, and E148Q in exon 2. In suspected FMF patients we screened all MEFV exons in selected cases.RESULTS: The overall carrier frequency of all MEFV mutations was higher than expected (9.3{\%}). In the whole cohort we did not find any apparently healthy persons with two mutations. Heterozygous mutations were found in apparently healthy subjects from different CSEE countries as follows: Macedonia 16{\%}, Serbia 11{\%}, Bosnia and Herzegovina 8{\%}, Slovenia 6{\%} and Hungary 5{\%}. The most common mutation in healthy controls was K695R, appearing in 40{\%} of mutated alleles. The most common mutation in suspected FMF patients was M694V, followed by K695R.CONCLUSIONS: We found a higher than expected carrier rate of MEFV gene mutations in populations from CSEE countries. It is interesting to note that 40{\%} of detected carriers carry the K695R mutation.",
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AU - Debeljak, Maruša

AU - Toplak, Nataša

AU - Abazi, Nora

AU - Szabados, Beatrix

AU - Mulaosmanović, Velma

AU - Radović, Jelena

AU - Perko, Daša

AU - Vojnović, Jelena

AU - Constantin, Tamas

AU - Kuzmanovska, Dafina

AU - Avčin, Tadej

PY - 2015/11/1

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N2 - OBJECTIVES: Familial Mediterranean fever (FMF) is an autosomal-recessive disorder caused by mutations in MEFV gene. Eastern Mediterranean populations have the highest number of carriers, whereas western Mediterranean populations are less frequently affected. The aim of this study was to determine the carrier rate and spectrum of MEFV gene mutations in apparently healthy populations and in suspected FMF patients from central and southeastern European (CSEE) countries.METHODS: We screened 507 apparently healthy persons from 5 CSEE countries. Exons 2 and 10 of the MEFV gene were PCR amplified and subsequently sequenced with ABI prism310 genetic analyser. Six most common mutations in the MEFV gene were tested: V726A, K695R, M694V, M694I, M680I in exon 10, and E148Q in exon 2. In suspected FMF patients we screened all MEFV exons in selected cases.RESULTS: The overall carrier frequency of all MEFV mutations was higher than expected (9.3%). In the whole cohort we did not find any apparently healthy persons with two mutations. Heterozygous mutations were found in apparently healthy subjects from different CSEE countries as follows: Macedonia 16%, Serbia 11%, Bosnia and Herzegovina 8%, Slovenia 6% and Hungary 5%. The most common mutation in healthy controls was K695R, appearing in 40% of mutated alleles. The most common mutation in suspected FMF patients was M694V, followed by K695R.CONCLUSIONS: We found a higher than expected carrier rate of MEFV gene mutations in populations from CSEE countries. It is interesting to note that 40% of detected carriers carry the K695R mutation.

AB - OBJECTIVES: Familial Mediterranean fever (FMF) is an autosomal-recessive disorder caused by mutations in MEFV gene. Eastern Mediterranean populations have the highest number of carriers, whereas western Mediterranean populations are less frequently affected. The aim of this study was to determine the carrier rate and spectrum of MEFV gene mutations in apparently healthy populations and in suspected FMF patients from central and southeastern European (CSEE) countries.METHODS: We screened 507 apparently healthy persons from 5 CSEE countries. Exons 2 and 10 of the MEFV gene were PCR amplified and subsequently sequenced with ABI prism310 genetic analyser. Six most common mutations in the MEFV gene were tested: V726A, K695R, M694V, M694I, M680I in exon 10, and E148Q in exon 2. In suspected FMF patients we screened all MEFV exons in selected cases.RESULTS: The overall carrier frequency of all MEFV mutations was higher than expected (9.3%). In the whole cohort we did not find any apparently healthy persons with two mutations. Heterozygous mutations were found in apparently healthy subjects from different CSEE countries as follows: Macedonia 16%, Serbia 11%, Bosnia and Herzegovina 8%, Slovenia 6% and Hungary 5%. The most common mutation in healthy controls was K695R, appearing in 40% of mutated alleles. The most common mutation in suspected FMF patients was M694V, followed by K695R.CONCLUSIONS: We found a higher than expected carrier rate of MEFV gene mutations in populations from CSEE countries. It is interesting to note that 40% of detected carriers carry the K695R mutation.

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