Department of Geriatric Pharmacology and Therapeutics, Graduate School of Pharmaceutical Sciences, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba 260-8675, Japan.
Rheumatol Int. 2012 Jul;32(7):2143-8. doi: 10.1007/s00296-011-1947-2. Epub 2011 Apr 27.
To investigate the possible influence of the single nucleotide polymorphism (SNP) of the estrogen receptor-β gene, rs1256049 (Rsa) in exon 5, on the frequency of rheumatoid arthritis (RA), 263 RA patients and 174 control subjects with osteoarthritis (OA) were recruited. Rsa polymorphism was detected using a PCR-RFLP, Polymerase Chain Reaction-Restriction Fragment Length Polymorphism method. The occurrence of both mutant allele (G) and genotype (GG) were significantly higher in RA than in OA patients (allele P = 0.008, OR: 1.501, 95%CI: 1.12-2.02). In RA patients, GG genotype frequency was higher in severe RA patients than mild RA patients. Moreover, there was significant difference between severe RA patients and OA patients (P = 0.009), also the allele distribution was significant different between severe RA, mild RA, and OA patients (P = 0.025, 95%CI = 0.61-0.93). With respect to gender, GG genotype was statistically more frequent in female RA patients than that of OA, while such an association was not observed in men. Above all, the presence of the GG genotype could be a risk factor for RA and such trend might be different in gender, although additional larger scale study is needed.
为了研究雌激素受体-β基因（ER-β）单核苷酸多态性（SNP）rs1256049（Rsa）在 5 号外显子上的单核苷酸多态性（SNP）对类风湿关节炎（RA）频率的可能影响，招募了 263 名 RA 患者和 174 名骨关节炎（OA）对照者。使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测 Rsa 多态性。RA 患者中突变等位基因（G）和基因型（GG）的发生频率明显高于 OA 患者（等位基因 P = 0.008，OR：1.501，95%CI：1.12-2.02）。在 RA 患者中，GG 基因型频率在重症 RA 患者中高于轻症 RA 患者。此外，重症 RA 患者与 OA 患者之间存在显著差异（P = 0.009），重症 RA、轻症 RA 和 OA 患者之间的等位基因分布也存在显著差异（P = 0.025，95%CI = 0.61-0.93）。关于性别，在女性 RA 患者中，GG 基因型的频率明显高于 OA 患者，而在男性中则没有这种关联。总之，GG 基因型的存在可能是 RA 的一个危险因素，而且这种趋势在性别上可能有所不同，尽管需要进行更大规模的研究。
