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Article

Integrative genomic analysis of 21 orofacial diseases identifies shared genetic architecture with systemic diseases.

Nature communications - 4 Jun 2026

Nam Kisung, Eom Byeong Soo, Kim June Yeon, Lee Moon Geon, Lee Jeong-Min, Lee Kyeongho, Cha Jae-Kook, Kim Jin Man, Lee Seunggeun, Kim Sung-Jin

Abstract excerpt

Orofacial diseases are closely linked to systemic health, yet their genetic architecture and causal relationships remain incompletely understood. Here we show that integrative genomic analyses of 21 orofacial diseases in the UK Biobank, combining genome-wide, transcriptome-wide, rare variant association studies and Mendelian randomization, identify 48 novel loci and prioritize 160 putative causal genes. Among...

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PMID: 42243103
DOI: 10.1038/s41467-026-73925-0
PMCID: PMC13396644

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ALDH1A2

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