Ismail Nesreen M, Toraih Eman A, Almars Amany I, Al Ageeli Essam, Fawzy Manal S, Maher Shymaa Ahmed
Department of Rheumatology and Rehabilitation, Faculty of Medicine, Suez Canal University, Ismailia 41522, Egypt.
Division of Endocrine and Oncologic Surgery, Department of Surgery, Tulane University School of Medicine, New Orleans, LA 70112, USA.
Diagnostics (Basel). 2022 May 11;12(5):1197. doi: 10.3390/diagnostics12051197.
Accumulating evidence supports the implication of long non-coding RNAs (lncRNAs) in autoimmune diseases, including systemic lupus erythematosus (SLE). LncRNA variants could impact the development and/or outcome of the disease with variable diagnostic/prognostic utility in the clinic. We aimed to explore the contribution of HOTAIR (rs10783618), LINC-ROR (rs1942347), and MALAT1 (rs3200401) variants to SLE susceptibility and/or severity in 163 SLE patients and age-/sex-matched controls using real-time TaqMan allelic discrimination PCR. HOTAIR rs10783618C/C was associated with a 77% increased risk of SLE (OR = 1.77, 95%CI = 1.09−2.87, p = 0.020) under the recessive model. Similarly, MALAT1 rs3200401T/T carriers were three times more likely to develop SLE (OR = 2.89, 95%CI = 1.42−5.90) under the recessive model. While the rs3200401T/C genotype was associated with a 49−57% decreased risk of SLE under codominant (OR = 0.51, 95%CI = 0.31−0.82, p < 0.001) and over-dominant (OR = 0.43, 95%CI = 0.27−0.68, p < 0.001) models. LINC-ROR rs1942347A/A patients were more likely to have a positive family history of SLE. At the same time, HOTAIR rs10783618C/C was associated with a higher frequency of arthritis (p = 0.001) and the presence of oral ulcers (p = 0.002), while patients carrying rs10783618T/T genotype were more likely to develop hair loss (p < 0.001), weight loss (p = 0.001), and neurological symptoms (p = 0.003). In conclusion, the studied lncRNAs, HOTAIR, and MALAT1 gene polymorphisms confer susceptibility for SLE, providing a potential theoretical basis for their clinical translation in SLE disease.
越来越多的证据支持长链非编码RNA（lncRNA）与自身免疫性疾病有关，包括系统性红斑狼疮（SLE）。lncRNA变异可能会影响疾病的发展和/或结果，在临床上具有不同的诊断/预后效用。我们旨在通过实时TaqMan等位基因鉴别PCR，探讨HOTAIR（rs10783618）、LINC-ROR（rs1942347）和MALAT1（rs3200401）变异对163例SLE患者及年龄/性别匹配对照的SLE易感性和/或严重程度的影响。在隐性模型下，HOTAIR rs10783618C/C与SLE风险增加77%相关（OR = 1.77，95%CI = 1.09−2.87，p = 0.020）。同样，在隐性模型下，MALAT1 rs3200401T/T携带者患SLE的可能性高出两倍（OR = 2.89，95%CI = 1.42−5.90）。而rs3200401T/C基因型在共显性（OR = 0.51，95%CI = 0.31−0.82，p < 0.001）和超显性（OR = 0.43，95%CI = 0.27−0.68，p < 0.001）模型下与SLE风险降低49−57%相关。LINC-ROR rs1942347A/A患者更有可能有SLE家族史阳性。同时，HOTAIR rs10783618C/C与关节炎发生率较高（p = 0.001）和口腔溃疡存在（p = 0.002）相关，而携带rs10783618T/T基因型的患者更有可能出现脱发（p < 0.001）、体重减轻（p = 0.001）和神经症状（p = 0.003）。总之，所研究的lncRNAs、HOTAIR和MALAT1基因多态性赋予了SLE易感性，为它们在SLE疾病中的临床转化提供了潜在的理论基础。
