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A Multilayered Post–Genome-Wide Association Study Analysis Pipeline Defines Functional Variants and Target Genes for Systemic Lupus Erythematosus
Arthritis & Rheumatology ( IF 13.3 ) Pub Date : 2024-02-19 , DOI: 10.1002/art.42829
Mehdi Fazel‐Najafabadi 1 , Loren L. Looger 2, 3 , Harikrishna Reddy Rallabandi 1 , Swapan K. Nath 1
Affiliation  

Systemic lupus erythematosus (SLE), an autoimmune disease with incompletely understood etiology, has a strong genetic component. Although genome-wide association studies (GWASs) have revealed multiple SLE susceptibility loci and associated single-nucleotide polymorphisms (SNPs), the precise causal variants, target genes, cell types, tissues, and mechanisms of action remain largely unknown.

中文翻译:

多层后全基因组关联研究分析流程定义了系统性红斑狼疮的功能变异和靶基因

系统性红斑狼疮 (SLE) 是一种病因尚不完全清楚的自身免疫性疾病,具有很强的遗传因素。尽管全基因组关联研究 (GWAS) 揭示了多个 SLE 易感位点和相关的单核苷酸多态性 (SNP),但精确的因果变异、靶基因、细胞类型、组织和作用机制仍然很大程度上未知。
更新日期:2024-02-19
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