Department of Physical Medicine and Rehabilitation, China Medical University Hospital, Taichung, Taiwan.
Rheumatol Int. 2012 Aug;32(8):2301-6. doi: 10.1007/s00296-011-1961-4. Epub 2011 May 21.
The involvement of the epidermal growth factor 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 previous studies suggested the possible link between autoimmune 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 Chinese population. Polymorphism of EGFR gene was analyzed 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 development (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 development and polymorphism revealed by this study merit further investigation.
表皮生长因子受体 (EGFR) 在癌症发病机制中的作用已得到充分证实。相比之下，EGFR 在类风湿关节炎 (RA) 发展中的作用尚未得到明确界定，尽管先前的研究表明自身免疫性疾病和恶性肿瘤之间可能存在联系。因此，我们旨在研究 EGFR 基因多态性与 RA 是否存在关联。本研究评估了 EGFR（rs11543848 和 rs17337023）单核苷酸多态性（SNP）在台湾汉族人群中对 RA 的影响。对 188 例 RA 患者和 128 例对照者的 EGFR 基因多态性进行了分析。采用限制性片段长度多态性 (RFLP) 检测法检测 EGFR SNP。我们的数据证实 rs17337023 SNP 的 A 载体携带者发生 RA 的风险显著增加（P < 0.0001），且 rs17337023 SNP 的 A 等位基因携带者发生 RA 的风险也显著增加（比值比 [OR] = 1.52；95%置信区间 [CI] = 1.10-2.09）。此外，与对照组相比，患者的单倍型频率比较表明 GA 和 AT 单倍型更易发生 RA（P < 0.0001 和 P < 0.01）。然而，根据不同基因型和单倍型对 RA 患者的临床特征进行比较，并未发现显著差异。总之，我们的数据提供了关于 EGFR 多态性（rs11543848 和 rs17337023）与 RA 易感性的新信息，本研究揭示的多态性值得进一步研究。
