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Article

Non-coding autoimmune risk variant defines role for ICOS in T peripheral helper cell development.

Nature communications - 9 Mar 2024

Kim Taehyeung, Martínez-Bonet Marta, Wang Qiang, Hackert Nicolaj, Sparks Jeffrey A, Baglaenko Yuriy, Koh Byunghee, Darbousset Roxane, Laza-Briviesca Raquel, Chen Xiaoting, Aguiar Vitor R C, Chiu Darren J, Westra Harm-Jan, Gutierrez-Arcelus Maria, Weirauch Matthew T, Raychaudhuri Soumya, Rao Deepak A, Nigrovic Peter A

Abstract excerpt

Fine-mapping and functional studies implicate rs117701653, a non-coding single nucleotide polymorphism in the CD28/CTLA4/ICOS locus, as a risk variant for rheumatoid arthritis and type 1 diabetes. Here, using DNA pulldown, mass spectrometry, genome editing and eQTL analysis, we establish that the disease-associated risk allele is functional, reducing affinity for the inhibitory chromosomal regulator SMCHD1 to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Arthritis, Rheumatoid

Share to CD28 Antigens

Share to Chromosomal Proteins, Non-Histone

Share to CXCR5 gene

Share to Inducible T-Cell Co-Stimulator Protein

Share to T-Lymphocytes

Share to T-Lymphocytes, Helper-Inducer

Source

Open in PubMed Open full text

Identifiers

PMID: 38459032
DOI: 10.1038/s41467-024-46457-8
PMCID: PMC10923805

Genes

ICOS
CD28
CD4
CTLA4
CXCL13
CXCR5
SMCHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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