Evidence map›Paper›PMID 42334621›Full record

ArticleMolecular genetics and genomics : MGG2026

Genetic-epigenetic interactions (meQTLs) in orofacial clefts etiology.

A L Petrin, L A Machado-Paula, H L Keen, L Hovey, B Doolittle, L Dunlay, W Awotoye, X J Xie, E Zeng, A Butali and 3 more

Abstract read
In one paragraph

Article in Molecular genetics and genomics : MGG, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

13 authors.

A L PetrinCollege of Dentistry and Dental Clinics, University of Iowa , Iowa City, IA, 52242, USA. aline-petrin@uiowa.edu.ORCID http://orcid.org/0000-0003-2239-8120
L A Machado-PaulaCollege of Dentistry and Dental Clinics, University of Iowa , Iowa City, IA, 52242, USA.
H L KeenUniversity of Iowa Carver College of Medicine, Iowa City, IA, USA.
L HoveyTufts University School of Dental Medicine, Boston, MA, USA.
B DoolittleUniversity of North Carolina Adams School of Dentistry, Chapel Hill, NC, USA.
L DunlayCollege of Dentistry and Dental Clinics, University of Iowa , Iowa City, IA, 52242, USA.
W AwotoyeCollege of Dentistry and Dental Clinics, University of Iowa , Iowa City, IA, 52242, USA.
X J XieFlorida State University College of Medicine, Talahasse, FL, USA.
E ZengCollege of Dentistry and Dental Clinics, University of Iowa , Iowa City, IA, 52242, USA.
A ButaliCollege of Dentistry and Dental Clinics, University of Iowa , Iowa City, IA, 52242, USA.
M L MarazitaSchool of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
J C MurrayUniversity of Iowa Carver College of Medicine, Iowa City, IA, USA.
L M Moreno-UribeCollege of Dentistry and Dental Clinics, University of Iowa , Iowa City, IA, 52242, USA.

Funding

FaceBase Management and Coordination HubU01DE020057 · NIDCR · UNIVERSITY OF IOWA · PI MARAZITA, MARY L., MURRAY, JEFFREY C · 2009 to 2014
$8.9M
A Twin Approach for Genome-Wide Differential DNA Methylation in Orofacial CleftingK01DE027995 · NIDCR · UNIVERSITY OF IOWA · PI PETRIN, ALINE L · 2019 to 2023
$696k
NIDCR NIH HHS K01DE027995NIDCR NIH HHS R37DE08559NIDCR NIH HHS U01DE020057
6 · The paper itself

Abstract

Understanding how genetic variants influence disease risk through molecular mechanisms remains a central challenge in complex disease genetics. Nonsyndromic orofacial clefts (OFCs) exemplify this challenge, with most risk loci residing in non-coding regions. We hypothesized that common genetic variants influence OFC risk by modulating DNA methylation at regulatory elements through methylation quantitative trait loci (meQTLs). We analyzed 10 OFC-associated SNPs against genome-wide DNA methylation profiles in 409 cases and 456 controls, identifying 23 potential meQTLs. Findings were validated using 358 cleft-discordant sibling pairs with MethyLight assays. We performed formal mediation analysis, genotype-tissue interaction and cross-referenced with the mQTL Database to assess developmental timing. Nine meQTLs were validated, including rs987525 (8q24)-cg16561172 (MYC) (P = 9.6 × 10⁻⁶), which mapped to a mesendoderm-active enhancer upstream of MYC. Genotype × tissue interaction confirmed tissue-specificity (P = 1.00 × 10

Indexed as

Cleft LipCleft PalateDNA MethylationEpigenesis, GeneticQuantitative Trait LociCase-Control StudiesCpG IslandsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMalePolymorphism, Single NucleotideCleft lip and palateDiscordant siblingsDNA methylationEpigeneticsMeQTLsOrofacial clefts

Identifiers

PMID42334621
PMCPMC13290791

What Socratic holds

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LicenceCC BY
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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.