MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever
- 2 May 2007
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 71 (5), 458-467
- https://doi.org/10.1111/j.1399-0004.2007.00789.x
Abstract
Familial Mediterranean fever (FMF) is a disease characterized by recurrent, self-limiting bouts of fever and serositis and caused by altered pyrin due to mutated MEFV gene. FMF is common in the Mediterranean Basin populations, although with varying genetic patterns. The spectrum and clinical significance of MEFV alterations in Greece has yet not been elucidated. The aim of this study was to analyze the spectrum of MEFV alterations in FMF patients and healthy individuals in Greece. A cohort of 152 Greek FMF patients along with 140 Greek healthy controls was enrolled. Non-isotopic RNase cleavage assay (NIRCA) and sequencing allowed mutational and haplotypic analysis of the entire coding sequence of MEFV. The ARLEQUIN 2.0, DNASP 4.0 and PHYLIP software were used for population genetics analysis. Among patients, 127 (83.6%) carried at least one known mutation. The most common mutations identified were M694V (38.1%), M680I (19.7%), V726A (12.2%), E148Q (10.9%) and E230K (6.1%). The total carrier rate among healthy individuals was 0.7%. The presence of R202Q homozygosity in 12 of the remaining 25 MEFV negative FMF patients might be considered as disease related in Greeks. Population genetics analysis revealed that Greeks rely closer to the eastern rather than western populations of the Mediterranean BasinKeywords
This publication has 32 references indexed in Scilit:
- Increased Frequency of Mutations in the Gene Responsible for Familial Mediterranean Fever (MEFV) in a Cohort of Patients with Ulcerative Colitis: Evidence for a Potential Disease-Modifying Effect?Digestive Diseases and Sciences, 2006
- Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patientsAnnals Of The Rheumatic Diseases, 2004
- The west side story:MEFVhaplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination “hot-spot” at theMEFVlocusHuman Mutation, 2004
- DnaSP, DNA polymorphism analyses by the coalescent and other methodsBioinformatics, 2003
- Familial Mediterranean Fever (FMF) Mutations Occur Frequently in the Greek-Cypriot Population of CyprusGenetic Testing, 2002
- The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean feverEuropean Journal of Human Genetics, 2002
- Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish populationEuropean Journal of Human Genetics, 2001
- The spectrum of Familial Mediterranean Fever (FMF) mutationsEuropean Journal of Human Genetics, 2001
- A candidate gene for familial Mediterranean feverNature Genetics, 1997
- Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean FeverCell, 1997