ArticlemedRxiv : the preprint server for health sciences2026
Genomic basis of developmental defects of enamel and sex-specific effects.
P Shrestha, M Graff, Y Gu, Y Wang, H S Ahn, K N Nguyen, A Khanna, C L Avery, H M Highland, J Ginnis and 9 more
Abstract readPreprint
In one paragraphArticle in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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What it found
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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 registryThe trial behind it
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3 · Its place in the literatureWho cites it
0 citing papers in PubMed.
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4 · The recordCorrections and comments
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5 · Who and what moneyAuthors and funding
19 authors.
P ShresthaDepartment of Pediatric Dentistry and Dental Public Health, Adams School of Dentistry, University of North Carolina at Chapel Hill, NC, USA.ORCID 0000-0002-1604-082X M GraffDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, NC, USA.ORCID 0000-0001-6380-1735 Y GuDepartment of Statistics and Actuarial Science, School of Computing and Data Science, The University of Hong Kong, Pokfulam Road, Hong Kong.
Y WangDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, NC, USA.
H S AhnDepartment of Pediatric Dentistry and Dental Public Health, Adams School of Dentistry, University of North Carolina at Chapel Hill, NC, USA.
K N NguyenDepartment of Pediatric Dentistry and Dental Public Health, Adams School of Dentistry, University of North Carolina at Chapel Hill, NC, USA.
A KhannaDepartment of Pediatric Dentistry and Dental Public Health, Adams School of Dentistry, University of North Carolina at Chapel Hill, NC, USA.
C L AveryDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, NC, USA.ORCID 0000-0002-1044-8162 H M HighlandDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, NC, USA.ORCID 0000-0002-3583-8239 J GinnisDepartment of Pediatric Dentistry and Dental Public Health, Adams School of Dentistry, University of North Carolina at Chapel Hill, NC, USA.ORCID 0009-0000-2127-5212 M A Simancas-PallaresDepartment of Pediatric Dentistry and Dental Public Health, Adams School of Dentistry, University of North Carolina at Chapel Hill, NC, USA.ORCID 0000-0003-2292-416X A G Ferreira ZandonáDepartment of Restorative and Prosthetic Sciences, The Ohio State University College of Dentistry, Columbus, OH, USA.ORCID 0000-0003-0237-9416 R N AlotaibiDental Health Department, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia.ORCID 0000-0001-6455-9522 D Y LinDepartment of Biostatistics, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, NC, USA.
J S PreisserDepartment of Biostatistics, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, NC, USA.ORCID 0000-0002-7869-2057 G D SladeDepartment of Pediatric Dentistry and Dental Public Health, Adams School of Dentistry, University of North Carolina at Chapel Hill, NC, USA.ORCID 0000-0002-4065-6341 M L MarazitaCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine; Department of Human Genetics, School of Public Health; University of Pittsburgh, Pittsburgh, PA, USA.ORCID 0000-0002-2648-2832 K E NorthDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, NC, USA.ORCID 0000-0002-8903-0366 K DivarisDepartment of Pediatric Dentistry and Dental Public Health, Adams School of Dentistry, University of North Carolina at Chapel Hill, NC, USA.ORCID 0000-0003-1290-7251 Funding
Genome-Wide Association Study of Early Childhood CariesU01DE025046 · NIDCR · UNIV OF NORTH CAROLINA CHAPEL HILL · PI DIVARIS, KIMON · 2015 to 2019
$8.4MAdvancing the Genomics Knowledge Base for Oral DiseasesR01DE034410 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI Kimon Divaris, John R Shaffer · 2025 to 2026
$1.3MNIDCR NIH HHS R01 DE034410NIDCR NIH HHS U01 DE025046
6 · The paper itselfAbstract
We conducted a multi-ancestry genome-wide association study (GWAS) of developmental defects of enamel (DDE) in the primary dentition among 6,061 U.S. preschool-aged children (3-5 years). We investigated four DDE phenotypes (demarcated opacities, diffuse opacities, hypoplastic defects, and a combined DDE trait) leveraging main-effect models, joint gene-sex interaction testing (2df), and sex-stratified analyses. SNP-based heritability for the combined DDE trait was estimated at 20%, with concordance analyses robustly supporting a genetic etiology. We identified 39 unique genome-wide significant loci (
Indexed as
developmental defects of enamelenamel defectsenamel hypoplasiagene-environment interactiongeneticsgenetic variantsgenomicsheritability
Identifiers
PMID42465942
PMCPMC13370533
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