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Article

Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting.

Nature communications - 13 Mar 2017

Liu Huan, Leslie Elizabeth J, Carlson Jenna C, Beaty Terri H, Marazita Mary L, Lidral Andrew C, Cornell Robert A

Abstract excerpt

Genome-wide association studies (GWAS) do not distinguish between single nucleotide polymorphisms (SNPs) that are causal and those that are merely in linkage-disequilibrium with causal mutations. Here we describe a versatile, functional pipeline and apply it to SNPs at 1p22, a locus identified in several GWAS for non-syndromic cleft lip with or without cleft palate (NS CL/P). First we amplified DNA elements...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 28287101
DOI: 10.1038/ncomms14759
PMCID: PMC5355807

Genes

ARHGAP29

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting.PMID 28287101Read ↗

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Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22.Semantic proximity Read ↗

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