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Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells [BaseEditing]

ABSTRACT: Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells [BaseEditing]

PROVIDER: PRJNA810857 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR18850200_1.fastq.gz	Fastqsanger.gz
	SRR18850200_2.fastq.gz	Fastqsanger.gz
	SRR18850201_1.fastq.gz	Fastqsanger.gz
	SRR18850201_2.fastq.gz	Fastqsanger.gz
	SRR18850202_1.fastq.gz	Fastqsanger.gz

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Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells

Project description:Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells

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Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells [BaseEditing]

Project description:Determining causal variants for autoimmune disease is an enormous challenge - 90% of autoimmune disease-associated variants are non-coding and there are often 10s-100s are in tight linkage disequilibrium with the causal variant(s), making identification of the true causal variants difficult. Using massively parallel reporter assays in a T cell line, we prioritized variants that enriched highly for likely causal variants according to statistical fine-mapping. We followed up on one of the prioritized variants, rs72928038 in the BACH2 locus, which had a high effect size, finding that it regulates Bach2 expression in a human T cell line. We created mice containing a small deletion over this non-coding variant, and have tested mutant vs. WT antigen-specific T cells for their responses during acute viral infection. In the context of rs72928038-deleted mice (termed Bach218del), we found an increase in effector T cell differentiation, which highlights a potential role for rs72928038 in modulating effector T cell differentiation in the context of autoimmune disease.

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Genetic Risk Variants for Autoimmune Diseases that Influence Gene Expression in Thymus

Project description:Genome-wide association studies (GWAS) have boosted our knowledge of genetic risk variants in autoimmune diseases (AIDs). Most of the risk variants are located within or near genes with immunological functions, and the majority is found to be non-coding, pointing towards a regulatory role. We have performed a cis expression quantitative trait locus (eQTL) screen to investigate whether single nucleotide polymorphisms (SNPs) associated with AIDs influence gene expression in thymus. Genotyping was performed using the Immunochip and 353 AID associated SNPs were tested against expression of surrounding genes (+/- 1 Mb) from human thymic tissue (N=42). We identified eight genes where the expression was associated with AID risk SNPs at a study-wide level of significance (P < 2.57x10-5). Five genes (FCRL3, RNASET2, C2orf74, SIRPG and SYS1) displayed cis eQTL signals also in other tissues, while for two loci (NPIPB8 and LOC388814), the eQTL signal appear to be thymus-specific. Since many AID risk variants from GWAS have been subsequently fine-mapped in recent Immunochip projects, we explored the overlap between these novel AID risk variants and the thymic eQTL regions. Moreover, we examined the functional annotation of the seven expression altering SNPs (eSNPs). Our study reveals autoimmune risk variants that act as eQTLs in thymus. We have highlighted functional variants within these genetic regions that potentially can represent causal autoimmune risk variants. Total RNA from 42 human thymic samples were obtained from children undergoing cardiac surgery.

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