Evidence map›Paper›PMID 42243103›Full record

ArticleNature communications2026

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

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

Abstract read
In one paragraph

Article in Nature communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Kisung Nam *Graduate School of Data Science, Seoul National University, Gwanak-ro 1, Gwanak-gu, Seoul, Korea.ORCID http://orcid.org/0000-0002-7317-092X
Byeong Soo Eom *Department of Oral Microbiology and Immunology, School of Dentistry and Dental Research Institute, Seoul National University, Gwanak-ro 1, Gwanak-gu, Seoul, Korea.
June Yeon Kim *Department of Oral Histology and Developmental Biology, School of Dentistry and Dental Research Institute, Seoul National University, 101 Daehak-ro, Jongno-gu, Seoul, Korea.
Moon Geon LeeDepartment of Oral Histology and Developmental Biology, School of Dentistry and Dental Research Institute, Seoul National University, 101 Daehak-ro, Jongno-gu, Seoul, Korea.
Jeong-Min LeeDepartment of Oral Histology and Developmental Biology, School of Dentistry and Dental Research Institute, Seoul National University, 101 Daehak-ro, Jongno-gu, Seoul, Korea.
Kyeongho LeeDepartment of Oral Histology and Developmental Biology, School of Dentistry and Dental Research Institute, Seoul National University, 101 Daehak-ro, Jongno-gu, Seoul, Korea.
Jae-Kook ChaDepartment of Periodontology, Research Institute of Periodontal Regeneration, College of Dentistry, Yonsei University, Seoul, Korea.ORCID http://orcid.org/0000-0002-6906-7209
Jin Man KimDepartment of Oral Microbiology and Immunology, School of Dentistry and Dental Research Institute, Seoul National University, Gwanak-ro 1, Gwanak-gu, Seoul, Korea. jinmankim@snu.ac.kr.ORCID http://orcid.org/0000-0002-4751-7125
Seunggeun LeeGraduate School of Data Science, Seoul National University, Gwanak-ro 1, Gwanak-gu, Seoul, Korea. lee7801@snu.ac.kr.ORCID http://orcid.org/0000-0002-8097-3878
Sung-Jin KimDepartment of Oral Histology and Developmental Biology, School of Dentistry and Dental Research Institute, Seoul National University, 101 Daehak-ro, Jongno-gu, Seoul, Korea. sjinkim@snu.ac.kr.ORCID http://orcid.org/0000-0003-4115-0403

Funding

National Research Foundation of Korea (NRF) RS-2023-00210013
6 · The paper itself

Abstract

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 these, a synonymous variant in ALDH1A2 associated with periodontitis, encoding a key enzyme in retinoic acid synthesis, reduces translational efficiency, as shown by CRISPR-Cas9 editing. Single-cell RNA sequencing of periodontitis tissues further reveals impaired retinoic acid signaling and a T helper 17-skewed immune phenotype, accompanied by reduced retinoic acid levels in gingival crevicular fluid. Mendelian randomization supports a causal effect of Sjögren's syndrome on lung cancer and stroke, replicated in FinnGen. By contrast, dental caries and periodontitis share substantial genetic architecture with systemic diseases, including enrichment of nicotine-related pathways, without robust evidence of causality. Together, these findings map the genetic landscape of orofacial diseases and clarify their complex links to systemic pathophysiology.

Indexed as

Dental CariesPeriodontitisAldehyde Dehydrogenase 1 FamilyGenetic Predisposition to DiseaseGenome-Wide Association StudyGenomicsHumansMendelian Randomization AnalysisRetinal DehydrogenaseSjogren's SyndromeTretinoinUK BiobankAldehyde Dehydrogenase 1 FamilyALDH1A2 protein, humanRetinal DehydrogenaseTretinoin

Identifiers

PMID42243103
PMCPMC13396644

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.