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Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate

Abstract: Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a common congenital facial malformation with a multifactorial etiology. Genome-wide association studies (GWASs) have identified multiple genetic risk loci. However, functional interpretation of these loci is hampered by the underrepresentation in public resources of systematic functional maps representative of human embryonic facial development. To generate novel insights into the etiology of nsCL/P, we leveraged published GWAS data on nsCL/P as well as available chromatin modification and expression data on mid-facial development. Our analyses identified five novel risk loci, prioritized candidate target genes within associated regions, and highlighted distinct pathways. Furthermore, the results suggest the presence of distinct regulatory effects of nsCL/P risk variants throughout mid-facial development and shed light on its regulatory architecture. Our integrated data provide a platform to advance hypothesis-driven molecular investigations of nsCL/P and other human facial defects.

 Fuente: Human Genetics and Genomics Advances, Volume 2, Issue 3, 8 July 2021, 100038

Editorial: Cell Press Elsevier Inc.

 Fecha de publicación: 01/07/2021

Nº de páginas: 14

Tipo de publicación: Artículo de Revista

 DOI: 10.1016/j.xhgg.2021.100038

ISSN: 2666-2477

Url de la publicación: https://doi.org/10.1016/j.xhgg.2021.100038

Autores/as

WELZENBACH, JULIA

HAMMOND, NIGEL L.

NIKOLIC, MILOŠ

THIEME, FREDERIC

ISHORST, NINA

LESLIE, ELIZABETH J.

WEINBERG, SETH M.

BEATY, TERRI H.

MARAZITA, MARY L.

MANGOLD, ELISABETH

KNAPP, MICHAEL

COTNEY, JUSTIN

DIXON, MICHAEL J.

LUDWIG, KERSTIN U.