Unknown

Dataset Information

0

Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate.

ABSTRACT: AIM:To determine if nonsyndromic cleft lip with or without cleft palate (nsCL/P) genetic risk variants influence liability to nsCL/P through gene regulation pathways, such as those involving DNA methylation. MATERIALS & METHODS:nsCL/P genetic summary data and methylation data from four studies were used in conjunction with Mendelian randomization and joint likelihood mapping to investigate potential mediation of nsCL/P genetic variants. RESULTS & CONCLUSION:Evidence was found at VAX1 (10q25.3), LOC146880 (17q23.3) and NTN1 (17p13.1), that liability to nsCL/P and variation in DNA methylation might be driven by the same genetic variant, suggesting that genetic variation at these loci may increase liability to nsCL/P by influencing DNA methylation. Follow-up analyses using different tissues and gene expression data provided further insight into possible biological mechanisms.

SUBMITTER: Howe LJ 

PROVIDER: S-EPMC6462847 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

<h4>Aim</h4>To determine if nonsyndromic cleft lip with or without cleft palate (nsCL/P) genetic risk variants influence liability to nsCL/P through gene regulation pathways, such as those involving DNA methylation.<h4>Materials & methods</h4>nsCL/P genetic summary data and methylation data from four studies were used in conjunction with Mendelian randomization and joint likelihood mapping to investigate potential mediation of nsCL/P genetic variants.<h4>Results & conclusion</h4>Evidence was fou  ...[more]

Similar Datasets

Unknown DNA Methylation Variation Is Identified in Monozygotic Twins Discordant for Non-syndromic Cleft Lip and Palate.
| S-EPMC8149607 | biostudies-literature
Unknown Non-syndromic Cleft Lip and Palate Polymorphisms Affect Normal Lip Morphology.
| S-EPMC6207999 | biostudies-literature
Unknown Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects.
| S-EPMC5446392 | biostudies-literature
Unknown Susceptibility to DNA damage as a molecular mechanism for non-syndromic cleft lip and palate.
| S-EPMC3680497 | biostudies-literature
Unknown Association of the WNT3 polymorphisms and non-syndromic cleft lip with or without cleft palate: evidence from a meta-analysis.
| S-EPMC6250811 | biostudies-literature
Transcriptomics Susceptibility to DNA damage as a molecular mechanism for non-syndromic cleft lip and palate
2014-01-01 | E-GEOD-42589 | biostudies-arrayexpress
Unknown Identification of novel susceptibility loci for non-syndromic cleft lip with or without cleft palate.
| S-EPMC7754035 | biostudies-literature
Unknown Genomic expression in non syndromic cleft lip and palate patients: A review.
| S-EPMC4523586 | biostudies-literature
Transcriptomics Susceptibility to DNA damage as a molecular mechanism for non-syndromic cleft lip and palate
2014-01-01 | GSE42589 | GEO
Unknown Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms.
| S-EPMC2901599 | biostudies-literature