整合基因组学数据库和生物信息学,在多个大洲确定重症肌无力的全基因组变体

Dwiki Fitri , Lalu Muhammad Irham , Nanik Sulistyani , Muhammad Ma’ruf , Anisa Nova Puspitaningrum , Wirawan Adikusuma , Maulida Mazaya , Rockie Chong
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摘要

自身免疫性疾病是一种损害人体组织的免疫反应,从而破坏人体的生理功能。重症肌无力就是这样一种疾病,其特征是神经肌肉传递受损导致肌肉无力。虽然肌无力症可能影响任何人,但它往往在 20-30 岁的女性和 50 岁以上的男性中更为常见。这种疾病被认为是一种遗传性疾病,通常在老年时,当抗体靶向肌肉中的受体时才会出现。在这项研究中,我们试图利用几个数据库,包括 GWAS Catalog、HaploReg、GTEx portal 和 Ensembl,来确定可能影响重症肌无力的基因。具体来说,我们的重点是探索基因组变异以及 LTA 和 CTLA4 基因的表达。我们的研究结果显示,两个变异(rs2071591 和 rs231770)影响肌肉和脑组织中 LTA 的表达,同时影响睾丸细胞组织中 CTLA4 的表达。随后,我们评估了这些变体在不同地区人群(即非洲裔、美洲裔、东亚裔、欧洲裔和东南亚裔)中的等位基因频率。这项研究表明,与美洲和东南亚人群相比,LTA 和 CTLA4 基因在非洲、东亚和欧洲人群中的频率更高。因此,我们的研究结果表明,后两种人群对自身免疫性疾病重症肌无力的易感性可能相对较高。因此,这些基因的变异不仅为疾病易感性、诊断或预后生物标志物提供了洞察力,还为通过基因组驱动的药物再利用来确定候选药物靶点开辟了途径。
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Integration of genomics database and bioinformatics to identify genome-wide variants for myasthenia gravis across multiple continents

Autoimmune disease is an immune response that damages the body’s tissues, thereby disrupting the body’s physiological functions. Myasthenia gravis represents one such condition characterized by muscle weakness due to impaired neuromuscular transmission. While it can affect anyone, it tends to be more prevalent among women aged 20–30 and men over 50. This disease, deemed a genetic disorder, typically emerges in old age when antibodies target receptors in the muscles. In this study, we sought to identify the genes that can affect myasthenia gravis by leveraging several databases, including the GWAS Catalog, HaploReg, GTEx portal, and Ensembl. Specifically, our focus was on exploring genomic variants and the expression of the LTA and CTLA4 genes. Our findings reveal that two variants (rs2071591 and rs231770) impact LTA expression in both muscle and brain tissue, while affecting CTLA4 expression in testicular cell tissue. Subsequently, we assessed the allele frequency of these variants across regional populations, namely African, American, East Asian, European, and Southeast Asian. This study demonstrates that the LTA and CTLA4 genes have a higher frequency in African, East Asian, and European populations compared to American and Southeast Asian populations. Consequently, our finding suggests that the latter two populations might have relatively higher susceptibility to the autoimmune disease myasthenia gravis. Therefore, variations in these genes not only offer insights into disease susceptibility, diagnostic or prognostic biomarkers, but also open up avenues for identifying candidate drug targets through genomic-driven drug repurposing.

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