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Association of epidermal growth factor receptor (EGFR) functional genetic variants and their effect on enzymatic activity in rheumatoid arthritis

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投稿學會:臨床生化學會 收件編號: 分類編號:

第三十屆生物醫學聯合學術年會

投稿摘要表格(正本)

Association of epidermal growth factor receptor (EGFR) functional genetic variants and their effect on enzymatic activity in rheumatoid arthritis

黃春明1,6*

, 黃毓銓2,6, 劉詩平3,5, 蔡輔仁2,4,6, 陳世殷2,6#

Chung-Ming Huang1,6* Yu-Chuen Huang2,6 Shih-Ping Liu3,5 Fuu-Jen Tsai2,4,6 and Shih-Yin Chen2,6#

1

Division of Immunology and Rheumatology, Department of Internal Medicine; 2

Genetic center, Department of Medical Research; 3Center for Neuropsychiatry; 4

Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan; 5

Graduate Institute of Integrated Medicine; 6Graduate Institute of Chinese Medical Science, China Medical University, Taichung, Taiwan;

Abstract

Objective. We have previously described the association of rheumatoid arthritis (RA) prevalence and two epidermal growth factor receptor (EGFR) SNPs (rs17337023 and rs2227983) among Taiwanese population. This present study aimed to elucidate if these SNPs either alter EGFR expression or its function, and change increase the incidence and severity of RA.

Methods. The study cohort included 250 Taiwan’s Han Chinese RA patients and 223 age-, gender-matched healthy controls. Questionnaires, that measures functional status, joint count and quality of life, were given to outpatients. Blood samples collected from RA patients were analyzed to determine serum EGFR levels. The complete blood count, lipid profile, liver enzymes, renal function and RA biomarkers were also performed to determine the inflammatory statuses of RA patients and possibly organ dysfunction happened to them.

Results. Our data evidenced the prevalence of RA increase with individuals carrying AA or AT (p ˂ 0.001) at rs17337023 SNP. Although the data did not reach statistical significance, AA/AT patients tended to have lower mean anti-cyclic citrullinated peptide antibodies (anti-CCP), rheumatoid factor (RF), C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) values than TT controls. Besides, abnormal copy number variation (CNV) was found in 4.2% RA patients who participated in the study. Increased expression of EGFR was also observed in RA patients (p ˂ 0.001). Conclusion. Our study showed a correlation of increased EGFR expression and its gene polymorphism with the prevalence and may affect RA severity. These findings suggest EGFR worth further investigation as a therapeutic target for treatment of RA.

第一作者中文姓名: 黃春明 傳真: 電話: 04-22052121#2033 手機: 0961070222 E-mail:

[email protected]

地址:台中市北區學士路 91 號 中醫系

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