Suppr超能文献

rs2841277()与类风湿关节炎的易感性相关,而rs4672495与疾病活动度相关。

rs2841277 () is associated with susceptibility and rs4672495 is associated with disease activity in rheumatoid arthritis.

作者信息

Chen Wei-Chiao, Wang Wen-Chang, Okada Yukinori, Chang Wei-Pin, Chou Yii-Her, Chang Hui-Hua, Huang Jin-Ding, Chen Der-Yuan, Chang Wei-Chiao

机构信息

Institute of Clinical Pharmacy and Pharmaceutical Sciences, College of Medicine, National Cheng Kung University, Tainan, Taiwan.

The Ph.D. Program for Translational Medicine, College of Medical Science and Technology, Taipei Medical University, Taipei, Taiwan.

出版信息

Oncotarget. 2017 Jul 18;8(38):64180-64190. doi: 10.18632/oncotarget.19419. eCollection 2017 Sep 8.

Abstract

Rheumatoid arthritis (RA) is one of the most common autoimmune diseases, can lead to long-term joint damage, chronic pain, and loss of motor function in the hands, and may share some common genetic factors with other autoimmune disorders, such as ankylosing spondylitis (AS). Many single-nucleotide polymorphisms (SNPs) were reported by genome-wide association studies (GWASs) of RA, but some of them have not been examined in the Taiwanese population. In this study, for 15 SNPs reported in previous RA and AS GWASs, we investigated their association with RA in a Taiwanese population. Based on 334 RA patients recruited from the Taichung Veterans General Hospital and 16,036 healthy subjects from the Taiwan Biobank (TWB) project, we observed that subjects having minor allele C at rs2841277 ( ()) have lower susceptibility of RA, compare to those having genotype TT (Odds ratio (OR) = 0.6, = 3.0 × 10). Among the RA patients, we observed that subjects having GG at rs4672495 have a lower proportion of severe RA, compare to other subjects (OR = 0.09, = 5.6 × 10). Results of a bioinformatics approach showed that rs2841277 is able to influence expression of and and rs4672495 is able to influence the expression of . In summary, this study replicated an association of rs2841277 with RA susceptibility and showed an AS-associated SNP, rs4672495, is associated with RA activity in the Taiwanese population.

摘要

类风湿性关节炎(RA)是最常见的自身免疫性疾病之一,可导致长期的关节损伤、慢性疼痛以及手部运动功能丧失,并且可能与其他自身免疫性疾病,如强直性脊柱炎(AS),共享一些共同的遗传因素。类风湿性关节炎的全基因组关联研究(GWAS)报告了许多单核苷酸多态性(SNP),但其中一些尚未在台湾人群中进行检测。在本研究中,针对先前类风湿性关节炎和强直性脊柱炎GWAS报告的15个SNP,我们在台湾人群中调查了它们与类风湿性关节炎的关联。基于从中部荣民总医院招募的334例类风湿性关节炎患者和台湾生物银行(TWB)项目的16036名健康受试者,我们观察到,与基因型为TT的受试者相比,rs2841277位点携带次要等位基因C的受试者患类风湿性关节炎的易感性较低(优势比(OR)=0.6,P = 3.0×10)。在类风湿性关节炎患者中,我们观察到,与其他受试者相比,rs4672495位点基因型为GG的受试者严重类风湿性关节炎的比例较低(OR = 0.09,P = 5.6×10)。生物信息学方法的结果表明,rs2841277能够影响[具体基因1]和[具体基因2]的表达,而rs4672495能够影响[具体基因3]的表达。总之,本研究重复了rs2841277与类风湿性关节炎易感性的关联,并表明一个与强直性脊柱炎相关的SNP,rs4672495,在台湾人群中与类风湿性关节炎活动相关。

相似文献

1
rs2841277 () is associated with susceptibility and rs4672495 is associated with disease activity in rheumatoid arthritis.
Oncotarget. 2017 Jul 18;8(38):64180-64190. doi: 10.18632/oncotarget.19419. eCollection 2017 Sep 8.
2
PLD4 as a novel susceptibility gene for systemic sclerosis in a Japanese population.
Arthritis Rheum. 2013 Feb;65(2):472-80. doi: 10.1002/art.37777.
3
rs657075 (CSF2) Is Associated with the Disease Phenotype (BAS-G) of Ankylosing Spondylitis.
Int J Mol Sci. 2017 Jan 3;18(1):83. doi: 10.3390/ijms18010083.
5
Association of PTPN22 rs2476601 and STAT4 rs7574865 polymorphisms with rheumatoid arthritis: A meta-analysis update.
Immunobiology. 2015 Aug;220(8):1012-24. doi: 10.1016/j.imbio.2015.04.003. Epub 2015 Apr 28.

引用本文的文献

1
Loss-of-function mutations in PLD4 lead to systemic lupus erythematosus.
Nature. 2025 Sep 10. doi: 10.1038/s41586-025-09513-x.
2
Activated human B cells produce phospholipase D4-containing extracellular vesicles.
PLoS One. 2025 Aug 14;20(8):e0329832. doi: 10.1371/journal.pone.0329832. eCollection 2025.
5
Discovery of PLD4 modulators by high-throughput screening and kinetic analysis.
Results Chem. 2024 Jan;7. doi: 10.1016/j.rechem.2024.101349. Epub 2024 Feb 8.
6
Impacts of β-1, 3-N-acetylglucosaminyltransferases (B3GNTs) in human diseases.
Mol Biol Rep. 2024 Mar 29;51(1):476. doi: 10.1007/s11033-024-09405-9.
7
Structural and mechanistic insights into disease-associated endolysosomal exonucleases PLD3 and PLD4.
Structure. 2024 Jun 6;32(6):766-779.e7. doi: 10.1016/j.str.2024.02.019. Epub 2024 Mar 26.
10
PLD3 is a neuronal lysosomal phospholipase D associated with β-amyloid plaques and cognitive function in Alzheimer's disease.
PLoS Genet. 2021 Apr 8;17(4):e1009406. doi: 10.1371/journal.pgen.1009406. eCollection 2021 Apr.

本文引用的文献

1
rs657075 (CSF2) Is Associated with the Disease Phenotype (BAS-G) of Ankylosing Spondylitis.
Int J Mol Sci. 2017 Jan 3;18(1):83. doi: 10.3390/ijms18010083.
3
Recent Advances in Defining the Genetic Basis of Rheumatoid Arthritis.
Annu Rev Genomics Hum Genet. 2016 Aug 31;17:273-301. doi: 10.1146/annurev-genom-090314-045919. Epub 2016 May 23.
4
Genetic data: The new challenge of personalized medicine, insights for rheumatoid arthritis patients.
Gene. 2016 Jun 1;583(2):90-101. doi: 10.1016/j.gene.2016.02.004. Epub 2016 Feb 8.
5
rs10865331 associated with susceptibility and disease severity of ankylosing spondylitis in a Taiwanese population.
PLoS One. 2014 Sep 3;9(9):e104525. doi: 10.1371/journal.pone.0104525. eCollection 2014.
7
A polymorphism of ORAI1 rs7135617, is associated with susceptibility to rheumatoid arthritis.
Mediators Inflamm. 2014;2014:834831. doi: 10.1155/2014/834831. Epub 2014 Apr 8.
10
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
Nature. 2014 Feb 20;506(7488):376-81. doi: 10.1038/nature12873. Epub 2013 Dec 25.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验