Ludwig, Kerstin U., Boehmer, Anne C., Bowes, John, Nikolic, Milos ORCID: 0000-0003-0029-7601, Ishorst, Nina, Wyatt, Niki, Hammond, Nigel L., Goelz, Lina, Thieme, Frederic, Barth, Sandra, Schuenke, Hannah, Klamt, Johanna, Spielmann, Malte ORCID: 0000-0002-0583-4683, Aldhorae, Khalid ORCID: 0000-0002-5920-8004, Rojas-Martinez, Augusto, Noethen, Markus M., Rada-Iglesias, Alvaro, Dixon, Michael J., Knapp, Michael and Mangold, Elisabeth (2017). Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip 6 cleft palate and cleft palate only. Hum. Mol. Genet., 26 (4). S. 829 - 843. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

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Abstract

Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is among the most common human birth defects with multifactorial etiology. Here, we present results from a genome-wide imputation study of nsCL/P in which, after adding replication cohort data, four novel risk loci for nsCL/P are identified ( at chromosomal regions 2p21, 14q22, 15q24 and 19p13). On a systematic level, we show that the association signals within this high-density dataset are enriched in functionally-relevant genomic regions that are active in both human neural crest cells (hNCC) and mouse embryonic craniofacial tissue.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Ludwig, Kerstin U.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Boehmer, Anne C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bowes, JohnUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nikolic, MilosUNSPECIFIEDorcid.org/0000-0003-0029-7601UNSPECIFIED
Ishorst, NinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wyatt, NikiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hammond, Nigel L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Goelz, LinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thieme, FredericUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Barth, SandraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schuenke, HannahUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Klamt, JohannaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Spielmann, MalteUNSPECIFIEDorcid.org/0000-0002-0583-4683UNSPECIFIED
Aldhorae, KhalidUNSPECIFIEDorcid.org/0000-0002-5920-8004UNSPECIFIED
Rojas-Martinez, AugustoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Noethen, Markus M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rada-Iglesias, AlvaroUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dixon, Michael J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Knapp, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mangold, ElisabethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-239741
DOI: 10.1093/hmg/ddx012
Journal or Publication Title: Hum. Mol. Genet.
Volume: 26
Number: 4
Page Range: S. 829 - 843
Date: 2017
Publisher: OXFORD UNIV PRESS
Place of Publication: OXFORD
ISSN: 1460-2083
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
GENOME-WIDE ASSOCIATION; PARALLEL REPORTER ASSAYS; SUSCEPTIBILITY LOCI; THYROID-CANCER; ORAL CLEFTS; VARIANTS; ENHANCERS; POPULATION; GWAS; GENOTYPESMultiple languages
Biochemistry & Molecular Biology; Genetics & HeredityMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/23974

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