Research articles
ScienceAsia (): 256-261 |doi:
10.2306/scienceasia1513-1874...256
Association of copy number variation in Fc gamma receptor IIIb gene with risk of Graves' ophthalmopathy
Wen-Ling Liaoa, Yu-Huei Liub,c, Lei Wanc,d,e, Chwen-Tzuei Changf,g, Ching-Chu Chenf,g, Yung-Hsiang Chenc, Fuu-Jen Tsaib,d,e,h,*
ABSTRACT: The functional polymorphism that explains the established association of Fc gamma receptor IIIb (FCGR3B) with Graves' disease (GD) and Graves' ophthalmopathy (GO) remains unidentified, but copy number variation (CNV) might be relevant. The aim of this study was to determine whether CNV for FCGR3B is associated with GD and GO. Genotype analysis involved 624 GD patients, including 397 without GO (GDnonGO) and 227 with GO (GDGO), and 227 healthy controls. The relative copy number (CN) of FCGR3B was determined using a relative real-time quantitative polymerase chain reaction. Our findings indicated the distribution of the relative CN of FCGR3B significantly differed between the GDGO patients and the healthy controls (p=0.02) but not between the total GD patients and the healthy control groups (p=0.06). Individuals with less than 2 CN or more than 2 CN of FCGR3B were at significantly decreased risk of developing GDGO. In addition, GD patients with less than 2 copies of FCGR3B were at reduced risk for developing nodular hyperplasia and vitiligo, but at increased risk for myxedema. Our results suggest that CNV of FCGR3B is associated with the development or progression of GD in Taiwan Chinese population.
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| a |
Centre for Personalized Medicine, China Medical University Hospital, Taichung, Taiwan |
| b |
Department of Medical Research and Medical Genetics, China Medical University Hospital, Taichung, Taiwan |
| c |
Graduate Institute of Integrated Medicine, China Medical University, Taichung, Taiwan |
| d |
School of Chinese Medicine, China Medical University, Taichung, Taiwan |
| e |
Department of Health and Nutrition Biotechnology, Asia University, Taichung, Taiwan |
| f |
Division of Endocrinology and Metabolism, Department of Medicine, China Medical University Hospital, Taichung, Taiwan |
| g |
Department of Endocrinology and Metabolism, College of Chinese Medicine, China Medical University, Taichung, Taiwan |
| h |
Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan |
* Corresponding author, E-mail: d0704@www.cmuh.org.tw
Received 20 Mar 2012, Accepted 9 Aug 2012
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