ORIGINAL ARTICLE Association of rheumatoid arthritis risk with EGFR genetic polymorphisms in Taiwan’s Han Chinese population Sui-Foon Lo • Lei Wan • Hsiu-Chen Lin • Chung-Ming Huang • Shih-Yin Chen • Su-Ching Liu • Fuu-Jen Tsai Received: 20 December 2010 / Accepted: 8 May 2011 / Published online: 21 May 2011 Ó Springer-Verlag 2011 Abstract The involvement of the epidermal growth fac- tor receptor (EGFR) in the pathogenesis of cancer is well documented. In contrast, its role in rheumatoid arthritis (RA) development is not that well defined although pre- vious studies suggested the possible link between autoim- mune diseases and malignancy. Therefore, we aimed to examine whether there is a link between the EGFR genetic polymorphisms and the RA. Our study gauged the effects of EGFR (rs11543848 and rs17337023) single-nucleotide polymorphisms (SNPs) on RA among Taiwan’s Han Chi- nese population. Polymorphism of EGFR gene was ana- lyzed in 188 RA patients and 128 control subjects. Genotyping for EGFR SNPs was performed by restriction fragment length polymorphism (RFLP) assay. Our data confirmed statistically significant increased risk of RA development in subjects with A carrier at rs17337023 SNP (P \ 0.0001), and subjects with A allele at rs17337023 SNP (odds ratio [OR] = 1.52; 95% confidence interval [CI] = 1.10–2.09). Furthermore, comparison of haplotype frequencies between patients and controls suggested GA and AT haplotypes were more ‘‘at-risk’’ for RA develop- ment (P \ 0.0001 and P \ 0.01, respectively). However, comparisons of the clinical features of RA patients according to different genotypes and haplotypes revealed no significant difference. In conclusion, our data yield the new information on EGFR polymorphisms (rs11543848 and rs17337023) with the susceptibility of RA develop- ment and polymorphism revealed by this study merit fur- ther investigation. Keywords Rheumatoid arthritis Á Epidermal growth factor receptor Á Single-nucleotide polymorphisms Á Haplotype S.-F. Lo Department of Physical Medicine and Rehabilitation, China Medical University Hospital, Taichung, Taiwan L. Wan Á S.-Y. Chen Á S.-C. Liu Á F.-J. Tsai (&) Department of Medical Genetics, China Medical University Hospital, No. 2, Yuh Der Road, Taichung, Taiwan e-mail: d0704@mail.cmuh.org.tw C.-M. Huang Division of Immunology and Rheumatology, Department of Internal Medicine, China Medical University Hospital, Taichung, Taiwan F.-J. Tsai Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan H.-C. Lin Department of Physical Therapy, China Medical University Hospital, Taichung, Taiwan S.-F. Lo Department of Chinese Medicine, China Medical University Hospital, Taichung, Taiwan L. Wan Á S.-Y. Chen Á F.-J. Tsai Graduate Institute of Chinese Medical Science, China Medical University Hospital, Taichung, Taiwan C.-M. Huang Graduate Institute of Integrated Medicine, China Medical University Hospital, Taichung, Taiwan F.-J. Tsai Department of Biotechnology, Asia University, Taichung, Taiwan 123 Rheumatol Int (2012) 32:2301–2306 DOI 10.1007/s00296-011-1961-4