Ludwig, K. U., Boehmer, A. C., Rubini, M., Mossey, P. A., Herms, S., Nowak, S., Reutter, H., Alblas, M. A., Lippke, B., Barth, S., Paredes-Zenteno, M., Munoz-Jimenez, S. G., Ortiz-Lopez, R., Kreusch, T., Hemprich, A., Martini, M., Braumann, B., Jaeger, A., Poetzsch, B., Molloy, A., Peterlin, B., Hoffmann, P., Noethen, M. M., Rojas-Martinez, A., Knapp, M., Steegers-Theunissen, R. P. and Mangold, E. (2014). Strong Association of Variants around FOXE1 and Orofacial Clefting. J. Dent. Res., 93 (4). S. 376 - 382. THOUSAND OAKS: SAGE PUBLICATIONS INC. ISSN 1544-0591

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Abstract

Nonsyndromic orofacial clefting (nsOFC) is a common, complex congenital disorder. The most frequent forms are nonsyndromic cleft lip with or without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO). Although they are generally considered distinct entities, a recent study has implicated a region around the FOXE1 gene in both nsCL/P and nsCPO. To investigate this hypothesis, we analyzed the 2 most strongly associated markers (rs3758249 and rs4460498) in 2 independent samples of differing ethnicities: Central European (949 nsCL/P cases, 155 nsCPO cases, 1163 controls) and Mayan Mesoamerican (156 nsCL/P cases, 10 nsCPO cases, 338 controls). While highly significant associations for both single-nucleotide polymorphisms were obtained in nsCL/P (rs4460498: p(Europe) = 6.50 x 10(-06), p(Mayan) = .0151; rs3758249: p(Europe) = 2.41 x 10(-05), p(Mayan) = .0299), no association was found in nsCPO (p > .05). Genotyping of rs4460498 in 472 independent European trios revealed significant associations for nsCL/P (p = .016) and nsCPO (p = .043). A meta-analysis of all data revealed a genomewide significant result for nsCL/P (p = 1.31 x 10(-08)), which became more significant when nsCPO cases were added (p(nsOFC) = 1.56 x 10(-09)). These results strongly support the FOXE1 locus as a risk factor for nsOFC. With the data of the initial study, there is now considerable evidence that this locus is the first conclusive risk factor shared between nsCL/P and nsCPO.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Ludwig, K. U.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Boehmer, A. C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rubini, M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mossey, P. A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Herms, S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nowak, S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Reutter, H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Alblas, M. A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lippke, B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Barth, S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Paredes-Zenteno, M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Munoz-Jimenez, S. G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ortiz-Lopez, R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kreusch, T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hemprich, A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Martini, M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Braumann, B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jaeger, A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Poetzsch, B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Molloy, A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Peterlin, B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoffmann, P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Noethen, M. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rojas-Martinez, A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Knapp, M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Steegers-Theunissen, R. P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mangold, E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-441863
DOI: 10.1177/0022034514523987
Journal or Publication Title: J. Dent. Res.
Volume: 93
Number: 4
Page Range: S. 376 - 382
Date: 2014
Publisher: SAGE PUBLICATIONS INC
Place of Publication: THOUSAND OAKS
ISSN: 1544-0591
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
GENOME-WIDE; THYROID AGENESIS; CANDIDATE GENES; ORAL CLEFTS; PALATE; LIP; RISK; POPULATION; LIP/PALATE; MUTATIONMultiple languages
Dentistry, Oral Surgery & MedicineMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/44186

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