Genetic Analysis of Cleft Lip and Palate in Depth

A new international study, led by the University of Bonn, has provided valuable insights into the genetic causes of cleft lip and palate. The results of this research, published in the journal Human Genetics and Genomics Advances, reveal five previously unknown risk regions associated with an increased risk of malformation.

The study, titled "Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate," combined various data sources. It identified a total of 45 risk regions, all within the non-coding regions of DNA.

Cleft lip and palate, one of the most common congenital malformations, is mainly caused by genetic factors. The researchers found that some genetic changes from the GWAS data affect regulatory DNA sequences, which act as silencers or enhancers during early facial development of the embryo. This discovery sheds light on which genes increase or decrease in activity as a result.

The study involved universities in Manchester, Cologne, Pittsburgh, Connecticut, Johns Hopkins University in Baltimore, Emory University in Atlanta, and the University of Cantabria, among others. Dr. Kerstin U. Ludwig, the Emmy-Noether Gruppenleiterin at the Institut für Humangenetik, Universitätsklinikum Bonn, led the research. She can be contacted at +49-228-6885420 or [email protected].

Dr. Julia Welzenbach, also at the Institut für Humangenetik, Universitätsklinikum Bonn, was also involved in the study. She can be reached at +49-228-6885435 or [email protected].

The study was funded by the German Research Foundation (DFG, LU 1944-3/1). Besides the University of Bonn, the international research project on cleft lip and palate involved a US-American consortium with which the University of Bonn collaborated in a meta-analysis of genome-wide association studies.

The publication can be found at DOI: https://doi.org/10.1016/j.xhgg.2021.100038

This new research offers promising steps towards understanding and potentially preventing cleft lip and palate, a condition that affects many individuals worldwide.