Population genetics of familial Mediterranean fever: A review

Institute of Man, Yerevan, Armenia.
European Journal of HumanGenetics (Impact Factor: 4.35). 10/2007; 15(9):911-6. DOI: 10.1038/sj.ejhg.5201869
Source: PubMed


In this review, some principal population genetic features of familial Mediterranean fever (FMF) are considered. These relate to the time and the place of founder mutations' origins, the role of ancient migrations and contacts between populations in the spatial spreading of the disorder, the influence of environmental factors and cultural traditions on the rate of FMF incidence, and possible selective advantage in carriers of FMF causing gene (MEFV) mutations.


Available from: Levon Yepiskoposyan, Jun 05, 2014
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    • "Reasons for the differences in the prevalence of the disease in different ethnic groups are still unknown.1,4-7 The influence of environmental factors or a selective advantage of the heterozygote has been suggested in those from the Mediterranean area.8 "
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    ABSTRACT: Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by periodic episodes of fever and recurrent polyserositis. It is caused by a dysfunction of pyrin (or marenostrin) as a result of a mutation within the MEFV gene. It occurs mostly in individuals of Mediterranean origin; however, it has also been reported in non-Mediterranean populations. In this report, we describe the first case of FMF in a Korean child. As eight-year-old boy presented recurrent febrile attacks from an unknown cause, an acute scrotum and renal amyloidosis. He also showed splenomegaly, lymphadenopathy, pleural effusion, ascites and elevated acute phase reactants. After MEFV gene analysis, he was diagnosed as FMF combined with amyloidosis.
    Yonsei medical journal 03/2012; 53(2):454-8. DOI:10.3349/ymj.2012.53.2.454 · 1.29 Impact Factor
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    • "Aside from that association, however, specific MEFV mutations are not the sole determinants of phenotypic features such as age of onset, frequency or duration of attacks, expression of particular symptoms, or response to colchicine. Yepiskoposyan and Harutyunyan (2007) reported FMF inflammatory attacks can be triggered by stress and extreme physical exercise. In general, the effect of environment on the inflammatory attacks in FMF is not surprising and is also seen in other cyclic conditions such as sickle cell anemia. "
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    ABSTRACT: This project was conducted to study Familial Mediterranean Fever (FMF) which is an autosomal recessive condition that primarily affect population of the Mediterranean basin , If undiagnosed effectively and treated with colchicine for life it may lead to serious consequences in terms of renal amyloidosis and renal failure . We aim to check for the presence of FMF mutations among clinically suspected cases among Saudi subjects in Al-Qassim region by PCR technique, also as an important step for family counseling and case management. The study is a pilot study to check for the presence of FMF mutations among suspected cases (24 cases) from Saudi subjects in Al Qassim region, The control subjects (7) were selected from healthy volunteers. We examined FMF mutations by PCR technique for MEFV gene analysis in order to establish a diagnosis of FMF by examining two common mutations, M694V and E148Q.. We found 8.3 % of cohort are positive for M694V mutation , and all cohort are negative for E148Q mutation . Moreover we found no correlation between clinical severity of the disease phenotype and the nature of the mutation. So genetic counseling by PCR technique provides a rapid, reliable, cost-effective, noninvasive, and sensitive test for establishing a diagnosis of FMF in symptomatic patients & also provides a rational basis for medical and genetic counseling and of FMF patients and their families. [Mahmoud El Sayed and Badr Al Jarallah.
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    ABSTRACT: The utility of genetically isolated populations (population isolates) in the mapping and identification of genes is not only limited to the study of rare diseases; isolated populations also provide a useful resource for studies aimed at improved understanding of the biology underlying common diseases and their component traits. Well characterized human populations provide excellent study samples for many different genetic investigations, ranging from genome-wide association studies to the characterization of interactions between genes and the environment.
    Genome biology 09/2008; 9(8):109. DOI:10.1186/gb-2008-9-8-109 · 10.81 Impact Factor
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