Doaa Hs Attia, Dalia Ah Dorgham, Ahmed A El Maghraby, Marwa Alkaffas, Mahitab A Abdel Kawy, Mai M Sherif, Radwa M Abdel Halim
{"title":"埃及系统性红斑狼疮患者自身免疫调节基因多态性:初步结果","authors":"Doaa Hs Attia, Dalia Ah Dorgham, Ahmed A El Maghraby, Marwa Alkaffas, Mahitab A Abdel Kawy, Mai M Sherif, Radwa M Abdel Halim","doi":"10.1155/2021/5546639","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Systemic lupus erythematosus (SLE) is a systemic autoimmune disease. The autoimmune regulator (<i>AIRE</i>) is a master regulator of self-tolerance development. <i>AIRE</i> mutations lead to the development of autoimmune polyglandular syndrome type 1 while <i>AIRE</i> polymorphisms have been linked to organ-specific autoimmunity. The study is aimed at addressing the association between <i>AIRE</i> polymorphisms, rs2075876 (G > A) and rs760426 (A > G), and SLE susceptibility and expression in Egyptian patients.</p><p><strong>Methods: </strong>Ninety-nine patients were included. One hundred and ten, and 123 control subjects were genotyped for rs2075876 and rs760426, respectively. Lupus severity was assessed using the Lupus Severity of Disease Index and Lupus Severity Index (LSI). Systemic Lupus International Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) damage index was considered. Genotyping was done using StepOne Real-Time PCR. <i>Results. AIRE</i> rs760426 GG was more frequent in the patients under the genotype level (14.1% vs. 4.9%, <i>p</i> = 0.032) and recessive model (14.1% vs. 4.9%, <i>p</i> = 0.017, OR = 3.2 (1.2-8.7)). Musculoskeletal involvement and nephritis were associated with <i>AIRE</i> rs2075876 under the dominant (97.9% vs. 80.8%, <i>p</i> = 0.009, OR = 11 (1.3-89.2)) and recessive models (100% vs. 69.3%, <i>p</i> = 0.032), respectively; and both were linked to <i>AIRE</i> rs2075876 at the allelic level: 98.3% vs. 85%, <i>p</i> = 0.005, OR = 10.1 (1.3-76.6) and 82.8% vs. 68.6, <i>p</i> = 0.041, OR = 2.2 (1-4.7), respectively. Patients with <i>AIRE</i> rs2075876 A alleles had a higher damage index ( 1 ± 1.3 vs. 0.6 ± 1.1, <i>p</i> = 0.045) while the LSI was greater in patients with <i>AIRE</i> rs2075876 (8.5 ± 0.5 vs. 7.8 ± 1.3, <i>p</i> = 0.002) and rs760426 (8.6 ± 11 vs. 7.8 ± 1.2, <i>p</i> = 0.031) under the recessive models. <i>Conclusion. AIRE</i> rs760426 could share in SLE susceptibility while <i>AIRE</i> rs2075876 could influence the disease expression and burden in Egyptian patients.</p>","PeriodicalId":51715,"journal":{"name":"International Journal of Rheumatology","volume":"2021 ","pages":"5546639"},"PeriodicalIF":2.3000,"publicationDate":"2021-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8492237/pdf/","citationCount":"2","resultStr":"{\"title\":\"Autoimmune Regulator Gene Polymorphisms in Egyptian Systemic Lupus Erythematosus Patients: Preliminary Results.\",\"authors\":\"Doaa Hs Attia, Dalia Ah Dorgham, Ahmed A El Maghraby, Marwa Alkaffas, Mahitab A Abdel Kawy, Mai M Sherif, Radwa M Abdel Halim\",\"doi\":\"10.1155/2021/5546639\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Systemic lupus erythematosus (SLE) is a systemic autoimmune disease. The autoimmune regulator (<i>AIRE</i>) is a master regulator of self-tolerance development. <i>AIRE</i> mutations lead to the development of autoimmune polyglandular syndrome type 1 while <i>AIRE</i> polymorphisms have been linked to organ-specific autoimmunity. The study is aimed at addressing the association between <i>AIRE</i> polymorphisms, rs2075876 (G > A) and rs760426 (A > G), and SLE susceptibility and expression in Egyptian patients.</p><p><strong>Methods: </strong>Ninety-nine patients were included. One hundred and ten, and 123 control subjects were genotyped for rs2075876 and rs760426, respectively. Lupus severity was assessed using the Lupus Severity of Disease Index and Lupus Severity Index (LSI). Systemic Lupus International Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) damage index was considered. Genotyping was done using StepOne Real-Time PCR. <i>Results. AIRE</i> rs760426 GG was more frequent in the patients under the genotype level (14.1% vs. 4.9%, <i>p</i> = 0.032) and recessive model (14.1% vs. 4.9%, <i>p</i> = 0.017, OR = 3.2 (1.2-8.7)). Musculoskeletal involvement and nephritis were associated with <i>AIRE</i> rs2075876 under the dominant (97.9% vs. 80.8%, <i>p</i> = 0.009, OR = 11 (1.3-89.2)) and recessive models (100% vs. 69.3%, <i>p</i> = 0.032), respectively; and both were linked to <i>AIRE</i> rs2075876 at the allelic level: 98.3% vs. 85%, <i>p</i> = 0.005, OR = 10.1 (1.3-76.6) and 82.8% vs. 68.6, <i>p</i> = 0.041, OR = 2.2 (1-4.7), respectively. Patients with <i>AIRE</i> rs2075876 A alleles had a higher damage index ( 1 ± 1.3 vs. 0.6 ± 1.1, <i>p</i> = 0.045) while the LSI was greater in patients with <i>AIRE</i> rs2075876 (8.5 ± 0.5 vs. 7.8 ± 1.3, <i>p</i> = 0.002) and rs760426 (8.6 ± 11 vs. 7.8 ± 1.2, <i>p</i> = 0.031) under the recessive models. <i>Conclusion. AIRE</i> rs760426 could share in SLE susceptibility while <i>AIRE</i> rs2075876 could influence the disease expression and burden in Egyptian patients.</p>\",\"PeriodicalId\":51715,\"journal\":{\"name\":\"International Journal of Rheumatology\",\"volume\":\"2021 \",\"pages\":\"5546639\"},\"PeriodicalIF\":2.3000,\"publicationDate\":\"2021-09-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8492237/pdf/\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Journal of Rheumatology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1155/2021/5546639\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2021/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"RHEUMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Rheumatology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1155/2021/5546639","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2021/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"RHEUMATOLOGY","Score":null,"Total":0}
引用次数: 2
摘要
背景:系统性红斑狼疮(SLE)是一种全身性自身免疫性疾病。自身免疫调节因子(AIRE)是自我耐受性发展的主要调节因子。AIRE突变导致自身免疫性多腺综合征1型的发展,而AIRE多态性与器官特异性自身免疫有关。该研究旨在探讨AIRE多态性rs2075876 (G > A)和rs760426 (A > G)与埃及患者SLE易感性和表达之间的关系。方法:纳入99例患者。分别对110例和123例对照进行rs2075876和rs760426基因分型。使用狼疮疾病严重程度指数和狼疮严重程度指数(LSI)评估狼疮严重程度。考虑系统性狼疮国际合作诊所(SLICC)/美国风湿病学会(ACR)损伤指数。采用StepOne Real-Time PCR进行基因分型。结果。AIRE rs760426 GG在基因型水平(14.1% vs. 4.9%, p = 0.032)和隐性模式(14.1% vs. 4.9%, p = 0.017, OR = 3.2(1.2 ~ 8.7))患者中发生率更高。在显性模型(97.9%比80.8%,p = 0.009, OR = 11(1.3-89.2))和隐性模型(100%比69.3%,p = 0.032)下,肌肉骨骼受累和肾炎分别与AIRE rs2075876相关;两者均与AIRE rs2075876等位基因水平相关:98.3% vs. 85%, p = 0.005, OR = 10.1 (1.3 ~ 76.6); 82.8% vs. 68.6, p = 0.041, OR = 2.2(1 ~ 4.7)。在隐性模型下,AIRE rs2075876 A等位基因患者的损伤指数更高(1±1.3比0.6±1.1,p = 0.045),而AIRE rs2075876(8.5±0.5比7.8±1.3,p = 0.002)和rs760426(8.6±11比7.8±1.2,p = 0.031)患者的LSI更高。结论。AIRE rs760426可能参与SLE易感,AIRE rs2075876可能影响埃及患者的疾病表达和负担。
Background: Systemic lupus erythematosus (SLE) is a systemic autoimmune disease. The autoimmune regulator (AIRE) is a master regulator of self-tolerance development. AIRE mutations lead to the development of autoimmune polyglandular syndrome type 1 while AIRE polymorphisms have been linked to organ-specific autoimmunity. The study is aimed at addressing the association between AIRE polymorphisms, rs2075876 (G > A) and rs760426 (A > G), and SLE susceptibility and expression in Egyptian patients.
Methods: Ninety-nine patients were included. One hundred and ten, and 123 control subjects were genotyped for rs2075876 and rs760426, respectively. Lupus severity was assessed using the Lupus Severity of Disease Index and Lupus Severity Index (LSI). Systemic Lupus International Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) damage index was considered. Genotyping was done using StepOne Real-Time PCR. Results. AIRE rs760426 GG was more frequent in the patients under the genotype level (14.1% vs. 4.9%, p = 0.032) and recessive model (14.1% vs. 4.9%, p = 0.017, OR = 3.2 (1.2-8.7)). Musculoskeletal involvement and nephritis were associated with AIRE rs2075876 under the dominant (97.9% vs. 80.8%, p = 0.009, OR = 11 (1.3-89.2)) and recessive models (100% vs. 69.3%, p = 0.032), respectively; and both were linked to AIRE rs2075876 at the allelic level: 98.3% vs. 85%, p = 0.005, OR = 10.1 (1.3-76.6) and 82.8% vs. 68.6, p = 0.041, OR = 2.2 (1-4.7), respectively. Patients with AIRE rs2075876 A alleles had a higher damage index ( 1 ± 1.3 vs. 0.6 ± 1.1, p = 0.045) while the LSI was greater in patients with AIRE rs2075876 (8.5 ± 0.5 vs. 7.8 ± 1.3, p = 0.002) and rs760426 (8.6 ± 11 vs. 7.8 ± 1.2, p = 0.031) under the recessive models. Conclusion. AIRE rs760426 could share in SLE susceptibility while AIRE rs2075876 could influence the disease expression and burden in Egyptian patients.