본문 바로가기
KERD
논문KCI 등재

The presence of MEFV gene mutations in patients with primary osteoarthritis who require surgery

2

조회

0

다운로드

0

인용

0

참고문헌

키워드

주제분류내과학

초록

Background/Aims: Chronic arthritis of familial Mediterranean fever (FMF)involves weight-bearing joints and can occur in patients without a history of acute attack. Our aim was to investigate a possible causal relationship between FMF and osteoarthritis in a population in which FMF is quite common. Methods: Patients with late stage primary osteoarthritis were enrolled, and five MEFV gene mutations were investigated. The frequency of MEFV gene mutations was compared among patients with osteoarthritis and a previous healthy group from our center. Results: One hundred patients with primary osteoarthritis and 100 healthy controls were studied. The frequency of MEFV gene mutations was significantly lower in the osteoarthritis group (9% vs. 19%). M694V was the most frequent mutation (5%) in the osteoarthritis group, whereas in the control group, E148Q was the most common (16%). In subgroup analyses, the mutation frequency of patients with hip osteoarthritis was not different from that of patients with knee osteoarthritis and controls (7.1%, 9.7%, and 19%, respectively). There were no differences among the three groups with respect to MEFV gene mutations other than E148Q (8.1% vs. 3.6%). E148Q was significantly lower in the osteoarthritis group than in the controls (16% vs. 1%), although the mutations did not differ between patients with knee osteoarthritis and controls. Conclusions: In a population with a high prevalence of MEFV gene mutations, we did not find an increased mutation rate in patients with primary osteoarthritis. Furthermore, we found that some mutations were significantly less frequent in patients with osteoarthritis. Although the number of patients studied was insufficient to claim that E148Q gene mutation protects against osteoarthritis, the potential of this gene merits further investigation.

Abstract

Background/Aims: Chronic arthritis of familial Mediterranean fever (FMF)involves weight-bearing joints and can occur in patients without a history of acute attack. Our aim was to investigate a possible causal relationship between FMF and osteoarthritis in a population in which FMF is quite common. Methods: Patients with late stage primary osteoarthritis were enrolled, and five MEFV gene mutations were investigated. The frequency of MEFV gene mutations was compared among patients with osteoarthritis and a previous healthy group from our center. Results: One hundred patients with primary osteoarthritis and 100 healthy controls were studied. The frequency of MEFV gene mutations was significantly lower in the osteoarthritis group (9% vs. 19%). M694V was the most frequent mutation (5%) in the osteoarthritis group, whereas in the control group, E148Q was the most common (16%). In subgroup analyses, the mutation frequency of patients with hip osteoarthritis was not different from that of patients with knee osteoarthritis and controls (7.1%, 9.7%, and 19%, respectively). There were no differences among the three groups with respect to MEFV gene mutations other than E148Q (8.1% vs. 3.6%). E148Q was significantly lower in the osteoarthritis group than in the controls (16% vs. 1%), although the mutations did not differ between patients with knee osteoarthritis and controls. Conclusions: In a population with a high prevalence of MEFV gene mutations, we did not find an increased mutation rate in patients with primary osteoarthritis. Furthermore, we found that some mutations were significantly less frequent in patients with osteoarthritis. Although the number of patients studied was insufficient to claim that E148Q gene mutation protects against osteoarthritis, the potential of this gene merits further investigation.

참고문헌 (24)

  1. Lawrence RC, "Estimates of the prevalence of arthritis and selected musculoskeletal disorders in the United States", Arthritis Rheum, 41, pp.778~799 (1998)
  2. Ehrlich GE, "Osteoarthritis beginning with inflammation. Definitions and correlations", JAMA, 232, pp.1975~1232 (1975)
  3. Heller H, "The arthritis of familial Mediterranean fever (FMF)", Arthritis Rheum, 9, pp.1~17 (1966)
  4. Garcia-Gonzalez A, "The arthritis of familial Mediterranean fever", Semin Arthritis Rheum, 22, pp.139~150 (1992)
  5. Sneh E, "Protracted arthritis in familial Mediterranean fever", Rheumatol Rehabil, 16, pp.102~106 (1977)
  6. Younes M, "Hip involvement in patients with familial Mediterranean fever: a review of ten cases", Joint Bone Spine, 69, pp.560~565 (2002)
  7. Bhat A, "Genetics and new treatment modalities for familial Mediterranean fever", Ann N Y Acad Sci, 1110, pp.201~208 (2007)
  8. Stehlik C, "The PAAD", PYRIN-family protein ASC is a dual regulator of a conserved step in nuclear factor kappaB activation pathways, 2002, pp.196, 1605~1615
  9. Booth DR, "Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148", QJM, 94, pp.527~531 (2001)
  10. Cosan F, "Association of familial Mediterranean fever-related MEFV gene M694V mutation with ankylosing spondylitis", Arthritis Rheum, 54, pp.465~466 (2006)
  11. Rabinovich E, "Severe disease in patients with rheumatoid arthritis carrying a mutation in the Mediterranean fever gene", Ann Rheum Dis, 64, pp.1009~1014 (2005)
  12. Rabinovich E, "Common FMF alleles may predispose to development of Behcet's disease with increased risk for venous thrombosis", Scand J Rheumatol, 36, pp.48~52 (2007)
  13. Giaglis S, "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?", Dig Dis Sci, 51, pp.687~692 (2006)
  14. Ozen S, "Mutations in the gene for familial Mediterranean fever: do they predispose to inflammation?", J Rheumatol, 30, pp.2014~2018 (2003)
  15. Neame RL, "Genetic risk of knee osteoarthritis: a sibling study", Ann Rheum Dis, 63, pp.1022~1027 (2004)
  16. Lanyon P, "Assessment of a genetic contribution to osteoarthritis of the hip: sibling study", BMJ, 321, pp.1179~1183 (2000)
  17. Valdes AM, "The contribution of genes to osteoarthritis", Med Clin North Am, 93, pp.45~66 (2009)
  18. Valdes AM, "The genetic epidemiology of osteoarthritis", Curr Opin Rheumatol, 22, pp.139~143 (2010)
  19. Tunca M, "Acute phase response and evolution of familial Mediterranean fever", Lancet, 353, pp.1415~ (1999)
  20. Lachmann HJ, "Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations", Rheumatology, 45, pp.746~750 (2006)
  21. Yilmaz E, "Mutation frequency of familial Mediterranean fever and evidence for a high carrier rate in the Turkish population", Eur J Hum Genet, 9, pp.553~555 (2001)
  22. Ben-Chetrit E, "The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?", Hum Mutat, 15, pp.385~386 (2000)
  23. Tchernitchko D, "The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever", Hum Mutat, 22, pp.339~340 (2003)
  24. Koc B, "The rate of pyrin mutations in critically ill patients with systemic inf lammatory response syndrome and sepsis: a pilot study", J Rheumatol, 34, pp.2070~2075 (2007)

관련 논문AI추천

Bloody Diarrhea as a Presentation Manifestation of Familial Mediterranean Fever in a Patient with Compound Heterozygote Mutations of the MEFV GeneGholamhossein Fallahi, Nima Rezaei, Nooshin Sadjadei거트앤리버 소화기연관학회협의회 · Gut and Liver2013 · 제7권 제4호TNF-α and TNF-β Polymorphisms are Associated with Susceptibility to Osteoarthritis in a Korean Population남석우, 박용규, 박원상, 송주현, 윤정환, 이석우, 이정용, 최유진, Lin Han대한병리학회 · Journal of Pathology and Translational Medicine2012 · 제46권 제1호Growth Differentiation Factor 5 (GDF5) Core Promoter Polymorphism Is Not Associated with Susceptibility to Osteoarthritis of the Knee in the Korean Population조장, 남석우, 박용규, 박원상, 송재휘, 윤정환, 이정용, 이화성대한병리학회 · Journal of Pathology and Translational Medicine2010 · 제44권 제4호The First Report on Clinical Manifestation of Cryopyrin-Associated Periodic Syndrome in Korean ChildrenHyunju Lee, Jina Lee, Joong Gon Kim, KWANG-YEON KIM, Sae Yun Kim, Soyoung Lee, Su Eun Park대한소아감염학회 · Pediatric Infection and Vaccine2018 · 제25권 제3호Prominent Inflammatory Features of Monocytes/Macrophages in Acute Calcium Pyrophosphate Crystal Arthritis: a Comparison with Acute Gouty Arthritis유빈, 김용길, 오지선, 이정선, 이창근, 정재형, 정지혜, 홍석찬대한면역학회 · Immune Network2019 · 제19권 제3호The role of neutrophil lymphocyte ratio to leverage the differential diagnosis of familial Mediterranean fever attack and acute appendicitisAdem Kucuk, Ali Ugur Uslu, Asiye Mukaddes Erol, Deniz Tihan, Emir Eroler, Havvanur Alparslan Yumun, Mehmet Fatih Erol, Soner Senel, Tevfik Kucukkartallar, Ugur Duman, Yalcin Solak대한내과학회 · The Korean Journal of Internal Medicine2016 · 제31권 제2호

이 간행물의 다른 논문 (10건)