MEFV gene mutations and their clinical significance in Korean patients with adult-onset Still's disease.
OBJECTIVE
Adult-onset Still's disease (AOSD) and periodic fever syndrome share clinical features in some aspects. Familial Mediterranean fever (MEFV) is a typical periodic fever syndrome and MEFV gene mutations may contribute to the clinical features of certain rheumatic diseases. The purpose of this study is to research the incidence and clinical utility of MEFV gene mutations in Korean AOSD patients.


METHODS
The study included 96 AOSD patients and 165 healthy controls. In both groups, genomic DNA was isolated and genotyped using restriction fragment length polymorphism for 5 MEFV gene mutations (E148Q, P369S, M680I, V726A and M694V). In the AOSD patients, the clinical significance of MEFV mutation was assessed by the laboratory and clinical features.


RESULTS
M680I, V726A and M694V were not found in both groups. P369S was detected in 7 (7.3%) AOSD patients and 10 (6.1%) healthy controls. E148Q mutation was found in 77 (46.7%) among healthy controls with 6 QQ and 44 (45.8%) of AOSD patients with 5 QQ, respectively. The allele frequency of E148Q was 0.25 in AOSD patients, and that of P369S was 0.04. However, there was no significant difference in most clinical manifestations and laboratory findings by the presence and absence of E148Q mutation.


CONCLUSIONS
MEFV mutations including E148Q mutation were not associated with the development of AOSD patients in Korea. Although high incidence of E148Q mutation was found, E148Q mutation did not show major effect on the clinical features of AOSD. But we need to look for association with clinical response to certain treatments and long-term prognosis.
Division of Rheumatology, Department of Internal Medicine, The Hospital for Rheumatic disease, Hanyang University School of Medicine, Seoul, Korea. predocj10@naver.com.
Jin Ju
JJ
Kim
Jae-Kong
JK
Kim
Seung-Cheol
SC
Shim
Jung-Yoon
JY
Choe
Tae-Hwan
TH
Kim
Jae-Bum
JB
Jun
Dae-Hyun
DH
Yoo
D000328:Adult; D017668:Age of Onset; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D000071198:Pyrin; D056910:Republic of Korea / Q000453:epidemiology; D012307:Risk Factors; D016706:Still's Disease, Adult-Onset / Q000208:ethnology / Q000235:genetics*; D055815:Young Adult
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin