{"title":"MHC2TA-168A/G和+1614G/C多态性与多发性硬化症或慢性炎性关节病的风险","authors":"C O'Doherty, S Hawkins, M Rooney, K Vandenbroeck","doi":"10.1111/j.1399-0039.2007.00876.x","DOIUrl":null,"url":null,"abstract":"<p><p>The -168A-G polymorphism has been shown to influence transcription of the MHC2TA gene and has been implicated in several inflammatory/autoimmune disorders. Attempts to reproduce these findings have been inconclusive. We investigated the role of this promoter single nucleotide polymorphism (SNP) in 440 multiple sclerosis (MS), 293 rheumatoid arthritis (RA), 74 juvenile idiopathic arthritis (JIA) patients and 316 healthy controls from Northern Ireland. We also genotyped a non-synonymous SNP in exon 11, +1614G/C. There was no significant difference in the -168G allele frequencies and carriage rates in the separate RA, JIA, or MS collections compared with the control group [odds ratio (OR) = 1.1, 95% confidence intervals (CI) = 0.86-1.44; OR = 1.1, 95% CI = 0.75-1.68; OR = 1.1, 95% CI = 0.84-1.35, respectively]. Assessment of the common phenotype (chronic inflammatory disease; n = 807 vs 316 controls) was negative as well. Carriage of +1614C was protective against JIA (OR = 0.6, 95% CI = 0.3-1.0) and showed a similar trend in RA and MS (OR = 0.7, 95% CI = 0.5-1.0; OR = 0.8, 95% CI = 0.6-1.0, respectively). The common phenotype (chronic inflammatory disease) was also significant (OR = 0.7, 95% CI = 0.6-1.0).</p>","PeriodicalId":23105,"journal":{"name":"Tissue antigens","volume":"70 3","pages":"247-51"},"PeriodicalIF":0.0000,"publicationDate":"2007-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1111/j.1399-0039.2007.00876.x","citationCount":"13","resultStr":"{\"title\":\"The MHC2TA-168A/G and +1614G/C polymorphisms and risk for multiple sclerosis or chronic inflammatory arthropathies.\",\"authors\":\"C O'Doherty, S Hawkins, M Rooney, K Vandenbroeck\",\"doi\":\"10.1111/j.1399-0039.2007.00876.x\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The -168A-G polymorphism has been shown to influence transcription of the MHC2TA gene and has been implicated in several inflammatory/autoimmune disorders. Attempts to reproduce these findings have been inconclusive. We investigated the role of this promoter single nucleotide polymorphism (SNP) in 440 multiple sclerosis (MS), 293 rheumatoid arthritis (RA), 74 juvenile idiopathic arthritis (JIA) patients and 316 healthy controls from Northern Ireland. We also genotyped a non-synonymous SNP in exon 11, +1614G/C. There was no significant difference in the -168G allele frequencies and carriage rates in the separate RA, JIA, or MS collections compared with the control group [odds ratio (OR) = 1.1, 95% confidence intervals (CI) = 0.86-1.44; OR = 1.1, 95% CI = 0.75-1.68; OR = 1.1, 95% CI = 0.84-1.35, respectively]. Assessment of the common phenotype (chronic inflammatory disease; n = 807 vs 316 controls) was negative as well. Carriage of +1614C was protective against JIA (OR = 0.6, 95% CI = 0.3-1.0) and showed a similar trend in RA and MS (OR = 0.7, 95% CI = 0.5-1.0; OR = 0.8, 95% CI = 0.6-1.0, respectively). The common phenotype (chronic inflammatory disease) was also significant (OR = 0.7, 95% CI = 0.6-1.0).</p>\",\"PeriodicalId\":23105,\"journal\":{\"name\":\"Tissue antigens\",\"volume\":\"70 3\",\"pages\":\"247-51\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2007-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1111/j.1399-0039.2007.00876.x\",\"citationCount\":\"13\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Tissue antigens\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1111/j.1399-0039.2007.00876.x\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Tissue antigens","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1111/j.1399-0039.2007.00876.x","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 13
摘要
-168A-G多态性已被证明影响MHC2TA基因的转录,并与几种炎症/自身免疫性疾病有关。重现这些发现的尝试一直没有定论。我们研究了440例多发性硬化症(MS)、293例类风湿关节炎(RA)、74例幼年特发性关节炎(JIA)患者和来自北爱尔兰的316例健康对照者中该启动子单核苷酸多态性(SNP)的作用。我们还在外显子11 +1614G/C上对一个非同义SNP进行了基因分型。RA、JIA或MS标本中-168G等位基因频率和携带率与对照组相比无显著差异[优势比(or) = 1.1, 95%可信区间(CI) = 0.86-1.44;Or = 1.1, 95% ci = 0.75-1.68;OR = 1.1, 95% CI = 0.84-1.35]。常见表型(慢性炎性疾病)的评估;N = 807 vs 316对照)也是阴性的。携带+1614C对JIA有保护作用(OR = 0.6, 95% CI = 0.3-1.0),对RA和MS也有类似的保护作用(OR = 0.7, 95% CI = 0.5-1.0;OR = 0.8, 95% CI = 0.6-1.0)。常见表型(慢性炎症性疾病)也很显著(OR = 0.7, 95% CI = 0.6-1.0)。
The MHC2TA-168A/G and +1614G/C polymorphisms and risk for multiple sclerosis or chronic inflammatory arthropathies.
The -168A-G polymorphism has been shown to influence transcription of the MHC2TA gene and has been implicated in several inflammatory/autoimmune disorders. Attempts to reproduce these findings have been inconclusive. We investigated the role of this promoter single nucleotide polymorphism (SNP) in 440 multiple sclerosis (MS), 293 rheumatoid arthritis (RA), 74 juvenile idiopathic arthritis (JIA) patients and 316 healthy controls from Northern Ireland. We also genotyped a non-synonymous SNP in exon 11, +1614G/C. There was no significant difference in the -168G allele frequencies and carriage rates in the separate RA, JIA, or MS collections compared with the control group [odds ratio (OR) = 1.1, 95% confidence intervals (CI) = 0.86-1.44; OR = 1.1, 95% CI = 0.75-1.68; OR = 1.1, 95% CI = 0.84-1.35, respectively]. Assessment of the common phenotype (chronic inflammatory disease; n = 807 vs 316 controls) was negative as well. Carriage of +1614C was protective against JIA (OR = 0.6, 95% CI = 0.3-1.0) and showed a similar trend in RA and MS (OR = 0.7, 95% CI = 0.5-1.0; OR = 0.8, 95% CI = 0.6-1.0, respectively). The common phenotype (chronic inflammatory disease) was also significant (OR = 0.7, 95% CI = 0.6-1.0).