Association of CDKAL1 nucleotide variants with the risk of non-syndromic cleft lip with or without cleft palate View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-04

AUTHORS

Agnieszka Gaczkowska, Kacper Żukowski, Barbara Biedziak, Kamil K. Hozyasz, Piotr Wójcicki, Małgorzata Zadurska, Margareta Budner, Agnieszka Lasota, Anna Szponar-Żurowska, Paweł P. Jagodziński, Adrianna Mostowska

ABSTRACT

Although the aetiology of non-syndromic cleft lip with or without cleft palate (nsCL/P) has been studied extensively, knowledge regarding the role of genetic factors in the pathogenesis of this common craniofacial anomaly is still limited. We conducted a follow-up association study to confirm that CDKAL1 nucleotide variants identified in our genome-wide association study (GWAS) for nsCL/P are associated with the risk of this anomaly. In addition, we performed a sequence analysis of the selected CDKAL1 exons. A mega-analysis of the pooled individual data from the GWAS and a replication study revealed that six out of thirteen CDKAL1 variants were positively replicated and reached the threshold of statistical significance (Ptrend < 3.85E-03). They represented a single association signal and were located within the fifth intron of CDKAL1. The strongest individual variant was rs9356746 with a Ptrend value = 5.71E-06 (odds ratio (OR) = 1.60, 95% confidence interval (CI): 1.30-1.97). Sequencing analysis did not reveal any pathogenic mutations of this gene. This study provides the first evidence that chromosomal region 6p22.3 is a novel susceptibility locus for nsCL/P. The location of the risk variants within the CDKAL1 intronic sequence containing enhancer elements predicted to regulate the SOX4 transcription may suggest that SOX4, rather than CDKAL1, is a potential candidate gene for this craniofacial anomaly. More... »

PAGES

397-406

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s10038-017-0397-4

    DOI

    http://dx.doi.org/10.1038/s10038-017-0397-4

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1100820445

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/29403086


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