{"title":"Association of rs12826786 and rs1899663, Long Non-coding RNA <i>HOTAIR</i> Polymorphic Variants, with Susceptibility to Rheumatoid Arthritis Disease.","authors":"Zakieh Sadeghi, Mohammad Javad Mokhtari","doi":"10.1007/s12291-024-01238-4","DOIUrl":null,"url":null,"abstract":"<p><p>The most prevalent inflammatory arthropathy in the world is rheumatoid arthritis (RA). An essential part of the pathogenesis of RA involves autoimmune responses. Variants in lncRNAs may have an impact on the course and/or result of a disease and may have diagnostic or prognostic significance. Our study looked into the connection of rs12826786 and rs1899663 polymorphisms of <i>HOX antisense RNA (HOTAIR)</i> transcript with genetic susceptibility to RA. The study involved 300 participants in total, 150 of them were RA patients and the remaining 150 were healthy controls. Using tetra primer ARMS-PCR, the <i>HOTAIR</i> polymorphisms rs12826786 and rs1899663 were detected. More observations of the T allele of rs1899663 and the C allele of rs12826786 were made in the study group compared to the control group. The <i>HOTAIR</i> rs12826786 variant displayed a significant association with susceptibility to RA in both recessive (OR = 2.45, 95% CI = 1.47-4.09, <i>P</i> = 0.0004) and over-dominant (OR = 0.42, 95% CI = 0.26-0.68, <i>P</i> = 0.0003) models. In addition, the <i>HOTAIR</i> rs1899663 was shown to be linked to RA susceptibility in the co-dominant model (OR = 0.32, 95% CI = 0.17-0.61, <i>P</i> = 0.0004 for GG genotype), dominant model (OR = 0.48, 95% CI = 0.29-0.81, <i>P</i> = 0.005), and recessive model (OR = 0.43, 95% CI = 0.25-0.74, <i>P</i> = 0.001). The CT haplotype is linked to a greater risk of RA, whereas the CG haplotype confers protection against RA. We reported for the first time, <i>HOTAIR</i> rs12826786 and rs1899663 variants are associated with susceptibility to developing RA among the Iranian population. In addition, the CT and CG haplotypes were associated with the risk of RA. Further functional studies are needed to elucidate the role of these variations on <i>HOTAIR</i> expression.</p>","PeriodicalId":13280,"journal":{"name":"Indian Journal of Clinical Biochemistry","volume":"41 2","pages":"251-258"},"PeriodicalIF":1.5000,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12988054/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Indian Journal of Clinical Biochemistry","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s12291-024-01238-4","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/5/27 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
The most prevalent inflammatory arthropathy in the world is rheumatoid arthritis (RA). An essential part of the pathogenesis of RA involves autoimmune responses. Variants in lncRNAs may have an impact on the course and/or result of a disease and may have diagnostic or prognostic significance. Our study looked into the connection of rs12826786 and rs1899663 polymorphisms of HOX antisense RNA (HOTAIR) transcript with genetic susceptibility to RA. The study involved 300 participants in total, 150 of them were RA patients and the remaining 150 were healthy controls. Using tetra primer ARMS-PCR, the HOTAIR polymorphisms rs12826786 and rs1899663 were detected. More observations of the T allele of rs1899663 and the C allele of rs12826786 were made in the study group compared to the control group. The HOTAIR rs12826786 variant displayed a significant association with susceptibility to RA in both recessive (OR = 2.45, 95% CI = 1.47-4.09, P = 0.0004) and over-dominant (OR = 0.42, 95% CI = 0.26-0.68, P = 0.0003) models. In addition, the HOTAIR rs1899663 was shown to be linked to RA susceptibility in the co-dominant model (OR = 0.32, 95% CI = 0.17-0.61, P = 0.0004 for GG genotype), dominant model (OR = 0.48, 95% CI = 0.29-0.81, P = 0.005), and recessive model (OR = 0.43, 95% CI = 0.25-0.74, P = 0.001). The CT haplotype is linked to a greater risk of RA, whereas the CG haplotype confers protection against RA. We reported for the first time, HOTAIR rs12826786 and rs1899663 variants are associated with susceptibility to developing RA among the Iranian population. In addition, the CT and CG haplotypes were associated with the risk of RA. Further functional studies are needed to elucidate the role of these variations on HOTAIR expression.
世界上最常见的炎性关节病是类风湿关节炎(RA)。RA发病机制的一个重要部分涉及自身免疫反应。lncrna的变异可能对疾病的过程和/或结果有影响,并可能具有诊断或预后意义。本研究探讨了HOX反义RNA (HOTAIR)转录本rs12826786和rs1899663多态性与RA遗传易感性的关系。这项研究共涉及300名参与者,其中150人是类风湿性关节炎患者,其余150人是健康对照。采用四引物ARMS-PCR检测HOTAIR多态性rs12826786和rs1899663。与对照组相比,研究组对rs1899663的T等位基因和rs12826786的C等位基因的观察更多。HOTAIR rs12826786变异在隐性(OR = 2.45, 95% CI = 1.47-4.09, P = 0.0004)和过显性(OR = 0.42, 95% CI = 0.26-0.68, P = 0.0003)模型中均与RA易感性显著相关。此外,HOTAIR rs1899663基因在共显性模型(GG基因型OR = 0.32, 95% CI = 0.17-0.61, P = 0.0004)、显性模型(OR = 0.48, 95% CI = 0.29-0.81, P = 0.005)和隐性模型(OR = 0.43, 95% CI = 0.25-0.74, P = 0.001)中与RA易感性相关。CT单倍型与更大的RA风险相关,而CG单倍型则提供对RA的保护。我们首次报道了HOTAIR rs12826786和rs1899663变异与伊朗人群发生RA的易感性相关。此外,CT和CG单倍型与RA的风险相关。需要进一步的功能研究来阐明这些变异在HOTAIR表达中的作用。
期刊介绍:
The primary mission of the journal is to promote improvement in the health and well-being of community through the development and practice of clinical biochemistry and dissemination of knowledge and recent advances in this discipline among professionals, diagnostics industry, government and non-government organizations. Indian Journal of Clinical Biochemistry (IJCB) publishes peer reviewed articles that contribute to the existing knowledge in all fields of Clinical biochemistry, either experimental or theoretical, particularly deal with the applications of biochemistry, molecular biology, genetics, biotechnology, and immunology to the diagnosis, treatment, monitoring and prevention of human diseases. The articles published also include those covering the analytical and molecular diagnostic techniques, instrumentation, data processing, quality assurance and accreditation aspects of the clinical investigations in which chemistry has played a major role, or laboratory animal studies with biochemical and clinical relevance.