雌激素受体-β基因胞嘧啶-腺嘌呤重复多态性与类风湿关节炎症状的关联。

Association of cytosine-adenine repeat polymorphism of the estrogen receptor-beta gene with rheumatoid arthritis symptoms.

机构信息

Department of Biomedical Sciences, Veterinary Faculty, University of León, León, Spain.

出版信息

Rheumatol Int. 2010 Jul;30(9):1259-62. doi: 10.1007/s00296-010-1423-4. Epub 2010 Mar 28.

PMID:20349239

Abstract

The influence of the polymorphism of the estrogen receptor-beta gene, cytosine-adenine (CA) dinucleotide repeat in intron 6, in the occurrence of rheumatoid arthritis (RA) was investigated. Forty-seven RA patients and 36 control subjects with osteoarthritis (OA) were recruited. CA repeat polymorphism was examined using denaturing high-performance liquid chromatography (WAVE DNA Fragment Analysis System). The mean number of CA repeats was significantly higher in RA than in OA patients. Two groups were established: <or=21 repeats (short S), >or=22 repeats (long L); and 3 kinds of genotypes (SS, SL, LL) were found. In RA patients, the L allele frequency was higher (OR = 2.03; P <or= 0.05 Fisher's test) and more subjects carried the LL genotype (OR = 5.50; P <or= 0.05 Fisher's test) compared to OA patients. It was concluded that the presence of the L allele could be a risk factor for RA, although additional larger scale study is needed.

摘要

研究了雌激素受体-β基因的多态性，即内含子 6 中的胞嘧啶-腺嘌呤（CA）二核苷酸重复，对类风湿关节炎（RA）发生的影响。招募了 47 名 RA 患者和 36 名骨关节炎（OA）对照者。采用变性高效液相色谱法（WAVE DNA 片段分析系统）检测 CA 重复多态性。RA 患者的 CA 重复数平均值明显高于 OA 患者。建立了<or=21 个重复（短 S），>or=22 个重复（长 L）两个组；并发现 3 种基因型（SS、SL、LL）。与 OA 患者相比，RA 患者的 L 等位基因频率更高（OR = 2.03；P <or= 0.05 Fisher 检验），携带 LL 基因型的患者更多（OR = 5.50；P <or= 0.05 Fisher 检验）。结论是，虽然需要更大规模的研究，但 L 等位基因的存在可能是 RA 的一个风险因素。