Sun Qing-Qing, Hua Dong-Jin, Huang Si-Chao, Cen Han, Zhou Li, Shao Song
Department of Preventive Medicine, Medical School of Ningbo University, Ningbo, Zhejiang, China.
Ningbo First Hospital, Department of Rheumatology, Ningbo Hospital of Zhejiang University, Ningbo, Zhejiang, China.
Braz J Med Biol Res. 2018;51(7):e7126. doi: 10.1590/1414-431x20187126. Epub 2018 May 17.
This study was performed to examine whether the AF4/FMR2 family, member 1 (AFF1) rs340630 polymorphism is involved in the genetic background of rheumatoid arthritis (RA) in a Chinese population. Two different study groups of RA patients and controls (328 RA patients and 449 healthy controls in the first study group; 232 RA patients and 313 controls in the second study group) were included in our study. Overall, there was no significant difference in either genotype (P=0.71 and 0.64 in the first and second study group, respectively) nor allele (in the first study group: A vs G, P=0.65, OR=1.05, 95%CI=0.85-1.29; in the second study group: G vs A, P=0.47, OR=1.10, 95%CI=0.86-1.40) frequencies of AFF1 rs340630 polymorphism between RA patients and controls. Our study represents the first report assessing the association of AFF1 rs340630 polymorphism with RA risk. No significant evidence was found for the dominant or recessive models. Further case-control studies with larger sample sizes and fine-mapping studies are needed to clarify the role of AFF1 in the genetic basis of RA.
本研究旨在探讨AF4/FMR2家族成员1（AFF1）rs340630多态性是否参与中国人群类风湿关节炎（RA）的遗传背景。我们的研究纳入了两个不同的研究组，即RA患者组和对照组（第一个研究组有328例RA患者和449例健康对照；第二个研究组有232例RA患者和313例对照）。总体而言，AFF1 rs340630多态性的基因型（第一个和第二个研究组中P分别为0.71和0.64）及等位基因（在第一个研究组中：A与G，P = 0.65，OR = 1.05，95%CI = 0.85 - 1.29；在第二个研究组中：G与A，P = 0.47，OR = 1.10，95%CI = 0.86 - 1.40）频率在RA患者和对照组之间均无显著差异。我们的研究是评估AFF1 rs340630多态性与RA风险关联的首篇报道。未发现显性或隐性模型的显著证据。需要进一步开展更大样本量的病例对照研究和精细定位研究，以阐明AFF1在RA遗传基础中的作用。
