Multiple single nucleotide polymorphisms in the first intron of the IL2RA gene affect transcription factor binding and enhancer activity

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• 作者：Anton M. Schwartz^a ; Denis E. Demin^b ; Ilya E. Vorontsov^c ; Artem S. Kasyanov^c ; Lidia V. Putlyaeva^a ; Karina A. Tatosyan^a ; Ivan V. Kulakovskiy^a ; ^c ; Dmitry V. Kuprash^a ; ^b ; ^d ; ^{kuprash@eimb.ru}
• 关键词：IL2RA ; interleukin-2-receptor alpha ; SNP ; single nucleotide polymorphism ; TF ; transcription factor ; LTi cell ; lymphoid tissue inducer cell ; GWAS ; Genome-wide association studies
• 刊名：Gene
• 出版年：2017
• 出版时间：20 February 2017
• 年：2017
• 卷：602
• 期：Complete
• 页码：50-56
• 全文大小：597 K
• 卷排序：602

文摘

SNPs in human IL2RA gene linked to autoimmunity map to cell-type specific enhancers. All 5 enhancers from intron 1 predicted in silico are active in reporter gene assay. Activity of 4 of the 5 enhancers is modulated by specific SNP alleles. Rare SNP variants appear to disrupt binding of specific transcription factors.