Open AccessGlobal epidemiology of Familial Mediterranean fever mutations using population exome sequences
Author(s) -
Fujikura Kohei
Publication year - 2015
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.140
Subject(s) - familial mediterranean fever , epidemiology , exome sequencing , exome , medicine , genetics , population , mutation , genetic epidemiology , molecular epidemiology , biology , genotype , disease , pathology , gene , environmental health
Familial Mediterranean fever ( FMF ) is an inherited disorder characterized by recurrent episodes of fever accompanied by sterile peritonitis, arthritis, and pleuritis. Many mutations in the MEFV gene have been identified as causing FMF . However, accompanying epidemiological information remains quite scarce except in some Mediterranean countries, and the degree of penetrance has been a subject of controversy. Here, I established a genetic epidemiology of full FMF mutations using two population exome studies. Of 57 mutations associated with FMF , 22 were detected in a total of 9007 individuals from two exome sequences. Exome‐based epidemiology revealed the carrier rates of FMF in 28 populations in 19 countries by individual mutation and showed strong population specificity for the MEFV mutations. Unexpectedly high carrier rates suggested that some mutations are benign variants with no pathological significance and highlighted the need for caution in analyzing MEFV mutations. Similar approach could be used to uncover the incomplete or no penetrance of mutations in most inherited disorders.