Literature DB >> 19473580

Common MEFV mutations and polymorphisms in an elderly population: an association with E148Q polymorphism and rheumatoid factor levels.

E T Turanli1, T Beger, D Erdincler, A Curgunlu, S Karaman, E Karaca, S Dasdemir, M Bolayirli, H Yazici.   

Abstract

OBJECTIVES: To analyse the most common MEFV (Mediterranean fever gene) mutations and polymorphisms in an elderly population free of chronic inflammatory disease (n=164), and explore possible associations between hsCRP (high sensitive C-reactive protein) and RF (rheumatoid factor) levels with MEFV mutations and polymorphisms.
METHODS: An elderly group free of chronic inflammatory disease was chosen among the outpatients of the division of geriatric medicine. Total genomic DNA was isolated from blood, and PCR-RFLP analysis was performed using established protocols. Sera were analyzed for hsCRP and RF levels.
RESULTS: The frequencies for 694V (1.8%), 694I (1.8%), 680I (0.6%), 726A (2.1%) and 148Q (5%) alleles were found to be similar to Turkish historic controls, with a carrier frequency of 1/4. Further analyses with rheumatoid factor (RF) levels and mutations revealed a significant association between the presence of the E148Q polymorphism with increased RF levels (>15 mg/dl) (xi2= 7.358, p=0.007, OR=5.41 95% CI 1.41-20.64).
CONCLUSIONS: Common MEFV mutations and polymorphisms were similarly represented among the elderly population compared to historic controls. On the other hand, a significant association was found between the presence of E148Q polymorphism and increased RF levels. This suggests that the previously noted increased RF levels in elderly populations may somehow be related to the now described association of RF with MEFV E148Q polymorphism.

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Year:  2009        PMID: 19473580

Source DB:  PubMed          Journal:  Clin Exp Rheumatol        ISSN: 0392-856X            Impact factor:   4.473


  2 in total

1.  MEFV E148Q polymorphism is associated with Henoch-Schönlein purpura in Chinese children.

Authors:  Xuelian He; Hao Lu; Shixiu Kang; Jiangwei Luan; Zhisheng Liu; Wei Yin; Hui Yao; Yan Ding; Tao Li; Chew-Kiat Heng
Journal:  Pediatr Nephrol       Date:  2010-07-03       Impact factor: 3.714

2.  Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.

Authors:  İlker Karacan; Ayşe Balamir; Serdal Uğurlu; Aslı Kireçtepe Aydın; Elif Everest; Seyit Zor; Merve Özkılınç Önen; Selçuk Daşdemir; Ozan Özkaya; Betül Sözeri; Abdurrahman Tufan; Deniz Gezgin Yıldırım; Selçuk Yüksel; Nuray Aktay Ayaz; Rukiye Eker Ömeroğlu; Kübra Öztürk; Mustafa Çakan; Oğuz Söylemezoğlu; Sezgin Şahin; Kenan Barut; Amra Adroviç; Emire Seyahi; Huri Özdoğan; Özgür Kasapçopur; Eda Tahir Turanlı
Journal:  Rheumatol Int       Date:  2019-02-19       Impact factor: 2.631

  2 in total

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