Department of Transplantation, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Research Division, Hospital Regional de Alta Especialidad "Ciudad Salud", Tapachula, Chiapas, Mexico.
Clin Rheumatol. 2021 Aug;40(8):3095-3103. doi: 10.1007/s10067-021-05636-4. Epub 2021 Feb 11.
Systemic lupus erythematosus (SLE) is the prototypic autoimmune disease that disrupts numerous immunity mechanisms with the potential to exert damage to any organ or tissue. Its etiology remains uncertain; however, genetic and environmental factors that differ between populations strongly influence its development. Among the physiopathogenic factors, the genetic ones predominate, notably the major histocompatibility complex (MHC) loci. A high degree of ethnical admixture makes Mexican Mestizos a thoroughly genetically heterogeneous population. Therefore, this study aimed to identify the MHC polymorphisms associated with SLE development in Mexican Mestizos from Southern Mexico and compare them with patients from Mexico City.
A transversal study in SLE patients from Tapachula, Chiapas, was conducted. DNA typing of human leukocyte antigens (HLA) classes I and II was performed using single specific primers (SSP). Admixture analysis was performed using the population genetics LEADMIX software.
The frequencies of HLA-DRB116 and HLA-DQB105 were found to have a tendency towards increase in SLE patients, compared to ethnically matched healthy controls. The allele HLA-DRB1*03 seemed to be less associated with SLE in this group of Mexican Mestizos, opposed to other more Caucasian populations. Admixture analysis showed a higher Mayan genetic component in these patients from Chiapas.
The genetic susceptibility for SLE differed in two populations of Mexican Mestizos with dissimilar ethnic ancestries. Autochthonous Amerindian alleles, and not the more widely known Caucasian alleles, might be associated with the susceptibility to SLE in Mexican Mestizos from Tapachula, Chiapas. Key Points • Autochthonous Amerindian alleles, such as HLA-DRB1*16, had a tendency to be increased in SLE patients, compared to healthy controls. • SLE susceptibility alleles vary considerably among regions in Mexico, according to the distribution of the indigenous groups. • Ethnic admixture is a key determinant in the genetic susceptibility of SLE.
系统性红斑狼疮（SLE）是一种典型的自身免疫性疾病，它会破坏许多免疫机制，并有可能对任何器官或组织造成损害。其病因尚不清楚；然而，不同人群之间的遗传和环境因素强烈影响其发展。在发病机制因素中，遗传因素占主导地位，尤其是主要组织相容性复合体（MHC）基因座。墨西哥梅斯蒂索人由于高度的种族混合，是一个具有高度遗传异质性的人群。因此，本研究旨在鉴定与来自墨西哥南部恰帕斯州的塔帕丘拉的墨西哥梅斯蒂索人 SLE 发病相关的 MHC 多态性，并将其与墨西哥城的患者进行比较。
对恰帕斯州塔帕丘拉的 SLE 患者进行了横断面研究。使用单特异性引物（SSP）对人类白细胞抗原（HLA）I 类和 II 类进行 DNA 分型。采用群体遗传学 LEADMIX 软件进行混合分析。
与种族匹配的健康对照组相比，SLE 患者 HLA-DRB116 和 HLA-DQB105 的频率呈增加趋势。与其他更具高加索人特征的人群相比，该组墨西哥梅斯蒂索人 HLA-DRB1*03 似乎与 SLE 的相关性较低。混合分析显示，这些来自恰帕斯州的患者具有更高的玛雅遗传成分。
具有不同种族背景的两个墨西哥梅斯蒂索人群的 SLE 遗传易感性不同。与 SLE 易感性相关的可能是本土美洲原住民等位基因，而不是更为人熟知的高加索人等位基因。恰帕斯州塔帕丘拉的墨西哥梅斯蒂索人。关键点：
与健康对照组相比，SLE 患者 HLA-DRB1*16 等自身免疫性疾病相关等位基因的频率呈增加趋势。
墨西哥不同地区 SLE 易感性等位基因差异很大，这与土著群体的分布有关。
种族混合是 SLE 遗传易感性的关键决定因素。
