Gabriela Guerra-Monrroy, Luis Fernando Sosa-Tordoya
{"title":"HLA-G基因多态性与系统性红斑狼疮易感性的关系表现为某些临床表现","authors":"Gabriela Guerra-Monrroy, Luis Fernando Sosa-Tordoya","doi":"10.36610/j.jsars.2020.110200062","DOIUrl":null,"url":null,"abstract":"J. Selva Andina Res. Soc. 2020; 11(2):62-74. In Autoimmune diseases such as systemic lupus erythematosus (SLE) are characterized by inflammation, as well as the progressive development of antibodies and T lymphocytes directed against self antigens. Although the etiology is still unknown, it is known that there is a strong genetic association between these diseases and some alleles and / or haplotypes of the major histocompatibility complex (MHC). Individual susceptibility in autoimmunity may be determined by a combination of gene-specific polymorphisms that code for multiple proteins, cytokines, adhesion molecules, among others, and that is why it is important to study them. HLA-G is an MHC class I glycoprotein molecule, which performs very important functions when activating and The ID of artícle: 136/JSARS/2020 Guerra-Monrroy & Sosa-Tordoya J. Selva Andina Res. Soc. ______________________________________________________________________________________________________________ 63 Record from the article. Received march 2020. Returned may 2020. Accepted june 2020. Available online, august 2020. regulating the immune system. Therefore, what this study intends is to determine the genetic association between the 14 bp polymorphism of the HLA-G gene with the susceptibility to contract SLE and the clinical manifestations of the disease. The study population consisted of 120 patients with SLE and 112 patients without the disease. For the study, human DNA was obtained from peripheral blood, PCR was performed for molecular typing of the genotypes and alleles that were revealed by means of electrophoresis. in agarose gel. At the same time, serological tests were carried out using the ELISA technique to determine the presence of double-chain anti-.DNA IgG antibodies. The PCR results showed that lupus patients have a higher frequency of expression of the Ins/Del genotype (OR = 1.72, p <0.05); while, the presence of the homozygous Ins/Ins genotype is more frequent in the control group (OR = 0.29, p <0.001), thus showing that the first genotype is a risk factor and the second, a protection factor to suffer SLE respectively. It was also observed that between patients and controls there is no significant difference in the frequency of presentation of the Del/Del genotype in homozygosity. Regarding allele frequencies, the deletion allele was found to be more frequent in the group of lupus patients, compared to the control group where both alleles presented the same percentage. Regarding the clinical manifestations, it was observed that the Ins/Del polymorphism (OR = 8.64) is a risk factor for the development of dermatological manifestations. 2020. Journal of the Selva Andina Research Society®. Bolivia. All rights reserved. Edited by: Selva Andina Research Society","PeriodicalId":53763,"journal":{"name":"Journal of the Selva Andina Research Society","volume":"11 1","pages":"62-74"},"PeriodicalIF":0.3000,"publicationDate":"2020-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Asociación del polimorfismo genético del locus HLA-G y la susceptibilidad a contraer lupus eritematoso sistémico expresada en algunas manifestaciones clínicas\",\"authors\":\"Gabriela Guerra-Monrroy, Luis Fernando Sosa-Tordoya\",\"doi\":\"10.36610/j.jsars.2020.110200062\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"J. Selva Andina Res. Soc. 2020; 11(2):62-74. In Autoimmune diseases such as systemic lupus erythematosus (SLE) are characterized by inflammation, as well as the progressive development of antibodies and T lymphocytes directed against self antigens. Although the etiology is still unknown, it is known that there is a strong genetic association between these diseases and some alleles and / or haplotypes of the major histocompatibility complex (MHC). Individual susceptibility in autoimmunity may be determined by a combination of gene-specific polymorphisms that code for multiple proteins, cytokines, adhesion molecules, among others, and that is why it is important to study them. HLA-G is an MHC class I glycoprotein molecule, which performs very important functions when activating and The ID of artícle: 136/JSARS/2020 Guerra-Monrroy & Sosa-Tordoya J. Selva Andina Res. Soc. ______________________________________________________________________________________________________________ 63 Record from the article. Received march 2020. Returned may 2020. Accepted june 2020. Available online, august 2020. regulating the immune system. Therefore, what this study intends is to determine the genetic association between the 14 bp polymorphism of the HLA-G gene with the susceptibility to contract SLE and the clinical manifestations of the disease. The study population consisted of 120 patients with SLE and 112 patients without the disease. For the study, human DNA was obtained from peripheral blood, PCR was performed for molecular typing of the genotypes and alleles that were revealed by means of electrophoresis. in agarose gel. At the same time, serological tests were carried out using the ELISA technique to determine the presence of double-chain anti-.DNA IgG antibodies. The PCR results showed that lupus patients have a higher frequency of expression of the Ins/Del genotype (OR = 1.72, p <0.05); while, the presence of the homozygous Ins/Ins genotype is more frequent in the control group (OR = 0.29, p <0.001), thus showing that the first genotype is a risk factor and the second, a protection factor to suffer SLE respectively. It was also observed that between patients and controls there is no significant difference in the frequency of presentation of the Del/Del genotype in homozygosity. Regarding allele frequencies, the deletion allele was found to be more frequent in the group of lupus patients, compared to the control group where both alleles presented the same percentage. Regarding the clinical manifestations, it was observed that the Ins/Del polymorphism (OR = 8.64) is a risk factor for the development of dermatological manifestations. 2020. Journal of the Selva Andina Research Society®. Bolivia. All rights reserved. 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引用次数: 0
摘要
J. Selva Andina Res. Soc. 2020;11(2): 62 - 74。自身免疫性疾病,如系统性红斑狼疮(SLE),其特征是炎症,以及针对自身抗原的抗体和T淋巴细胞的进行性发展。虽然病因尚不清楚,但已知这些疾病与主要组织相容性复合体(MHC)的一些等位基因和/或单倍型之间存在很强的遗传关联。自身免疫的个体易感性可能是由基因特异性多态性的组合决定的,这些多态性编码多种蛋白质、细胞因子、粘附分子等,这就是研究它们的重要性。HLA-G是一种MHC I类糖蛋白分子,它在激活和激活MHC时起着非常重要的作用。______________________________________________________________________________________________________________ 从这篇文章63记录。2020年3月收。2020年5月返回。2020年6月接受。2020年8月在线发售。调节免疫系统。因此,本研究旨在确定与SLE易感性相关的HLA-G基因14bp多态性与SLE临床表现之间的遗传关系。研究人群包括120例SLE患者和112例无SLE患者。本研究从人外周血中提取DNA,用PCR方法对电泳所得基因型和等位基因进行分子分型。琼脂糖凝胶。同时采用ELISA技术进行血清学检测,确定双链抗-的存在。DNA IgG抗体。PCR结果显示,狼疮患者Ins/Del基因型的表达频率较高(OR = 1.72, p <0.05);而Ins/Ins纯合子基因型在对照组中更为常见(OR = 0.29, p <0.001),说明Ins/Ins纯合子基因型是SLE的危险因素,Ins/Ins纯合子基因型是SLE的保护因素。还观察到,在患者和对照组之间,Del/Del基因型纯合性的出现频率没有显著差异。在等位基因频率方面,与对照组相比,缺失等位基因在狼疮患者组中的频率更高,而对照组中两种等位基因的比例相同。在临床表现方面,Ins/Del多态性(OR = 8.64)是发生皮肤病表现的危险因素。2020. Selva Andina研究学会杂志。玻利维亚。版权所有。编辑:塞尔瓦·安迪纳研究协会
Asociación del polimorfismo genético del locus HLA-G y la susceptibilidad a contraer lupus eritematoso sistémico expresada en algunas manifestaciones clínicas
J. Selva Andina Res. Soc. 2020; 11(2):62-74. In Autoimmune diseases such as systemic lupus erythematosus (SLE) are characterized by inflammation, as well as the progressive development of antibodies and T lymphocytes directed against self antigens. Although the etiology is still unknown, it is known that there is a strong genetic association between these diseases and some alleles and / or haplotypes of the major histocompatibility complex (MHC). Individual susceptibility in autoimmunity may be determined by a combination of gene-specific polymorphisms that code for multiple proteins, cytokines, adhesion molecules, among others, and that is why it is important to study them. HLA-G is an MHC class I glycoprotein molecule, which performs very important functions when activating and The ID of artícle: 136/JSARS/2020 Guerra-Monrroy & Sosa-Tordoya J. Selva Andina Res. Soc. ______________________________________________________________________________________________________________ 63 Record from the article. Received march 2020. Returned may 2020. Accepted june 2020. Available online, august 2020. regulating the immune system. Therefore, what this study intends is to determine the genetic association between the 14 bp polymorphism of the HLA-G gene with the susceptibility to contract SLE and the clinical manifestations of the disease. The study population consisted of 120 patients with SLE and 112 patients without the disease. For the study, human DNA was obtained from peripheral blood, PCR was performed for molecular typing of the genotypes and alleles that were revealed by means of electrophoresis. in agarose gel. At the same time, serological tests were carried out using the ELISA technique to determine the presence of double-chain anti-.DNA IgG antibodies. The PCR results showed that lupus patients have a higher frequency of expression of the Ins/Del genotype (OR = 1.72, p <0.05); while, the presence of the homozygous Ins/Ins genotype is more frequent in the control group (OR = 0.29, p <0.001), thus showing that the first genotype is a risk factor and the second, a protection factor to suffer SLE respectively. It was also observed that between patients and controls there is no significant difference in the frequency of presentation of the Del/Del genotype in homozygosity. Regarding allele frequencies, the deletion allele was found to be more frequent in the group of lupus patients, compared to the control group where both alleles presented the same percentage. Regarding the clinical manifestations, it was observed that the Ins/Del polymorphism (OR = 8.64) is a risk factor for the development of dermatological manifestations. 2020. Journal of the Selva Andina Research Society®. Bolivia. All rights reserved. Edited by: Selva Andina Research Society