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Article

Large-scale whole-exome sequencing analyses identified protein-coding variants associated with immune-mediated diseases in 350,770 adults.

Nature communications - 15 Jul 2024

Yang Liu, Ou Ya-Nan, Wu Bang-Sheng, Liu Wei-Shi, Deng Yue-Ting, He Xiao-Yu, Chen Yi-Lin, Kang Jujiao, Fei Chen-Jie, Zhu Ying, Tan Lan, Dong Qiang, Feng Jianfeng, Cheng Wei, Yu Jin-Tai

Abstract excerpt

The genetic contribution of protein-coding variants to immune-mediated diseases (IMDs) remains underexplored. Through whole exome sequencing of 40 IMDs in 350,770 UK Biobank participants, we identified 162 unique genes in 35 IMDs, among which 124 were novel genes. Several genes, including FLG which is associated with atopic dermatitis and asthma, showed converging evidence from both rare and common variants. 91...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39009607
DOI: 10.1038/s41467-024-49782-0
PMCID: PMC11250857

Genes

CDSN
DDR1
DXO
FLG
IL18BP
LTA
PSMB9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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