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IRAK1 rs3027898 C/A 多态性与类风湿关节炎的风险相关。

IRAK1 rs3027898 C/A polymorphism is associated with risk of rheumatoid arthritis.

机构信息

Department of Orthopedics, The Affiliated Hospital of Nanjing Medical University, Changzhou Second People's Hospital, Changzhou 213003, China.

出版信息

Rheumatol Int. 2013 Feb;33(2):369-75. doi: 10.1007/s00296-012-2379-3. Epub 2012 Mar 27.

Abstract

IRAK1 and miR-499 play an important role in the etiology of rheumatoid arthritis. Few studies to date have focused on the influence of the IRAK1 rs3027898 C/A and hsa-mir-499 rs3746444 T/C polymorphisms in the susceptibility of the Chinese population to rheumatoid arthritis. We hypothesized that these polymorphisms may contribute to rheumatoid arthritis susceptibility. We studied IRAK1 rs3027898 C/A and hsa-mir-499 rs3746444 T/C gene polymorphisms in 214 rheumatoid arthritis cases and 478 controls in a Chinese population. Genotyping was performed by using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS). When the IRAK1 rs3027898 CC homozygote genotype was used as the reference group, the AA genotype was associated with significantly increased risk of rheumatoid arthritis (odds ratio (OR) = 1.91, 95 % confidence interval (CI) = 1.12-3.26, p = 0.017). A significantly increased risk of RA associated with the IRAK1 rs3027898 AA genotype was more evident among females, younger patients, CRP negative patients and both anti-CCP positive and negative patients compared with the IRAK1 rs3027898 CC/CA genotypes. The hsa-mir-499 rs3746444 T/C single nucleotide polymorphism (SNP) was not significantly associated with the risk for rheumatoid arthritis. Our findings suggest that the functional SNP IRAK1 rs3027898 C/A variant allele is associated with the development of rheumatoid arthritis. However, the hsa-mir-499 rs3746444 T/C polymorphism may not be associated with susceptibility to rheumatoid arthritis.

摘要

IRAK1 和 miR-499 在类风湿关节炎的发病机制中发挥着重要作用。迄今为止,很少有研究关注 IRAK1 rs3027898 C/A 和 hsa-mir-499 rs3746444 T/C 多态性对中国人群类风湿关节炎易感性的影响。我们假设这些多态性可能导致类风湿关节炎的易感性。我们在中国人群中研究了 214 例类风湿关节炎病例和 478 例对照的 IRAK1 rs3027898 C/A 和 hsa-mir-499 rs3746444 T/C 基因多态性。采用基质辅助激光解吸电离飞行时间质谱(MALDI-TOF MS)进行基因分型。当 IRAK1 rs3027898 CC 纯合基因型作为参考组时,AA 基因型与类风湿关节炎的发病风险显著增加相关(比值比(OR)=1.91,95%置信区间(CI)=1.12-3.26,p=0.017)。与 IRAK1 rs3027898 CC/CA 基因型相比,IRA-K1 rs3027898 AA 基因型的女性、年轻患者、CRP 阴性患者以及抗 CCP 阳性和阴性患者发生 RA 的风险显著增加。hsa-mir-499 rs3746444 T/C 单核苷酸多态性(SNP)与类风湿关节炎的发病风险无显著相关性。我们的研究结果表明,功能性 SNP IRAK1 rs3027898 C/A 变异等位基因与类风湿关节炎的发生有关。然而,hsa-mir-499 rs3746444 T/C 多态性可能与类风湿关节炎的易感性无关。

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