期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

AIRE基因与陕西汉族类风湿关节炎遗传易感性关联研究

Association of AIRE gene polymorphisms with susceptibility to rheumatoid arthritis among ethnic Han Chinese from Shaanxi
原文传递
导出
摘要 目的探讨AIRE基因单核苷酸多态性（single nucleotide polymorphisms，SNP）与陕西汉族类风湿关节炎（rheumatoid arthritis，RA）的相关性。方法收集陕西汉中地区人群样本共960例，其中确诊RA患者384例，正常对照576名，采用病例-对照研究方法，选取AIRE基因rs2075876、rs760426、rs1800520、rs878081等四个SNP位点，采用单碱基延伸检测SNP位点，分析其与RA的相关性。结果所选A／RE基因4个SNP位点均符合Hardy-Weinberg平衡检验（P〉0．05）。研究发现A／RE基因内含子区域rs2075876G等位基因（OR=1．41，95％CI 1．17～1．71，P=3．7×10^-4），显性模式（OR=1．79，95％CI 1．21～2．63，P：0．002）和隐性模式（OR=1．48，95％CI 1．14～1．93，P=0．003）在RA组与对照组比较差异有统计学意义。rs760426A等位基因（OR=1．26，95％CI 1．04～1．52，P=0．01），隐性模式（OR=1．33，95％CI 1．02～1．73，P=0．03）在RA组与对照组比较差异有统计学意义。而rs878081和rs1800520等位基因频率在RA组与对照组之间差异无统计学意义（P〉0．05）。AIRE基因4个SNP单倍型分析发现，rs2075876、rs760426、rs1800520位于同一连锁不平衡区域，其单倍型CAG在RA组与对照组之间差异有统计学意义（P=0．01）。结论AIRE基因内含子区域rs2075876和rs760426单核苷酸多态性位点，可能是陕西汉族人RA的易感基因位点。 Objective To assess the association of AIRE gene polymorphisms with rheumatoid arthritis （RA） among ethnic Han Chinese from Shaan＇xi Province. Methods Genomic DNA was prepared from 384 individuals with RA and 576 healthy controls. Four tag single nucleotide polymorphisms （SNP） in the AIRE gene （rs2075876, rs760426, rs1800520, and rs878081） were genotyped with a SNaPshot method. The genotypic and allelic frequencies were evaluated using a Chi square test. Genotyping data was corrected by Logistic regression for age and gender. The linkage disequilibrium （LD） block structure was examined using Hapview 4.2 software. Results All 4 SNPs have conformed to Hardy-Weinberg equilibrium （P〉0.05）. Two SNPs were significantly associated with RA, which included G allele of rs2075876 （OR= 1.41, 95%CI： 1. 17-1. 71, P = 3. 7 × 10^-4 ） i Dominant model （OR = 1. 79, 95% CI： 1. 21-2. 63, P=0. 002）, Recessive model （OR=1. 48, 95%CI： 1.14-1.93, P=0. 003）. rs760426 A risk allele （OR=1. 26, 95%CI： 1.04-1.52, P=0.01）; Recessive model （OR=1. 33, 95%CI： 1.02-1.73, P=0. 03）. In addition, rs878081 and rs1800520 SNPs were not allele and genotyped polymorphisms were significantly associated with RA susceptibility. Conclusion The rs2075876 and rs760426 loci of the AIRE gene are associated with increased risk for rheumatoid arthritis among ethnic Han Chinese from ShaanXi.
作者 李晓波 李婷 陈苗 柴杨
机构地区 西安交通大学附属 西安交通大学附属
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2016年第3期373-377,共5页 Chinese Journal of Medical Genetics
关键词 AIRE基因 单核苷酸多态性 类风湿关节炎 AIRE gene Single nucleotide polymorphism Rheumatoid arthritis
分类号 R593.22 [医药卫生—内科学]
  • 相关文献

参考文献14

  • 1Silman AJ , Pearson JE. Epidemiology and genetics of rheumatoidarthritis[J]. Arthritis Res ,2002, (Suppl 3): S265- S272. DOI: 10.1186/ar578.
  • 2Firestein GS. Evolving concepts of rheumatoid arthritis [J]. Nature , 2003, 423 ( 6937 ): 356-361. DOI: 10. 1038/ nature01661.
  • 3Klareskog 1., Padyukov I., Ronnelid J, et al. Genes, environment and immunity in the development of rheumatoid arthritis[J].Curr Opin Immunol,2006,18(6): 650-655. DOI: 10. 1016/j. col. 2006.06. 004.
  • 4Anderson MS, Venanzi ES, Klein L, et al. Projection of an immunological self shadow within the thymus by the aire protein [J]. Science , 2002, 298 (5597): 1395-1401. DOI: 10. 1126/ science. 1075958.
  • 5Terao C, Yamada R, Ohmura K, et al. The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population[J]. Hum Mol Genet, 2011, 20(13), 2680-2685. DOI: 10. 1093/ hmg/ddr161.
  • 6Gareia-l.ozano JR, Torres-Agrela B, Montes Cano MA, et al. Association of the AIRE gene with susceptibility to rheumatoid arthritis in a European population: a case control study[J]. Arthritis ResTher, 2013 ,15(1):R11. DOI:10.1186/ar4141.
  • 7Arnett FC, Edworthy SM, Bloch DA, et al. The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis [J]. Arthritis Rheum, 1988, 31(3) :315-324.
  • 8Edwards JC, Cambridge G, Abrahams VM. Do self- perpetuating B lymphocytes drive human autoimmune disease [J]?Immunology, 1999,97(2): 188-196. DOI: 10.1046/j. 1365 2567. 1999. 00772. x.
  • 9Scott DL, Wolfe F, Huizinga TW. Rheumatoid arthritis[J]. Lancet, 2010,376(9746):1094-1108. DOI: http://dx, doi. org/ 10. 1016/S0140-6736 (10) 60826-4.
  • 10Nagamine K, Peterson P, Scott HS, et al. Positional cloning of the APECED gene[J]. Nat Genet, 1997,17(4) :393-398. DOI: 10. 1038/ng1297-393.

二级参考文献19

  • 1Neufeld M, Maclaren NK, Blizzard RM. Two types of autoimmune Addison ' s disease associated with different polyglandular autoimmune (PGA) syndromes. Medicine, 1981, 60:355-362.
  • 2Nagamine K, Peterson P, Scott HS, et al. Positional cloning of theAPECEDgene. Nat Genet, 1997, 17: 393-398.
  • 3Ishii T, Suzuki Y, Ando N, et al. Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy eandidiasis-ectodermal dystrophy. J Clin Endocrinol Metab, 2000, 85: 2922 -2926.
  • 4Sato K, Nakajima K, Imamura H, et al. A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan. Endocr J, 2002, 49: 625-633.
  • 5Kogawa K, Kudoh J, Nagafuchi S, et al. Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations. Clin Immunol, 2002, 103: 277-283.
  • 6Sato U, Horikawa R, Katsumata N, et al. Novel compound heterozygous AIRE mutations in a Japanese patient with APECED. J Pediatr Endocrinol Metab, 2004, 17:917-921.
  • 7Wolff AS, Erichsen MM, Meager A, et al. Autoimmune polyendocrine syndrome type 1 in Norway: phenotypie variation, autoantibodies, and novel mutations in the autoimmune regulator gene. J Clin Endocrinol Metab, 2007, 92: 595 -603.
  • 8史长宏 廖培元.自身免疫多腺体综合征Ⅰ型1例[J].中国实用儿科杂志,2000,15:326-326.
  • 9Bjorses P, Halonen M, Palvimo JJ, et al. Mutations in the AIRE gene: effects on subcellular location and transaetivation function of the autoimmune polyendoerinopathy-eandidiasis- ectodermal dystrophy protein. Am J Hum Genet, 2000, 66 : 378- 392.
  • 10Cihakova D, Trebusak K, Heino M, et al. Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED. Hum Mutat, 2001, 18: 225-232.

共引文献8

中华医学遗传学杂志
2016年 第3期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部