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Confirming genes influencing risk to cleft lip with/without cleft palate in a case–parent trio study

Content Provider	Springer Nature Link
Author	Beaty, T. H. Taub, M. A. Scott, A. F. Murray, J. C. Marazita, M. L. Schwender, H. Parker, M. M. Hetmanski, J. B. Balakrishnan, P. Mansilla, M. A. Mangold, E. Ludwig, K. U. ethen, M. M. Rubini, M. Elcioglu, N. Ruczinski, I.
Copyright Year	2013
Abstract	A collection of 1,108 case–parent trios ascertained through an isolated, nonsyndromic cleft lip with or without cleft palate (CL/P) was used to replicate the findings from a genome-wide association study (GWAS) conducted by Beaty et al. (Nat Genet 42:525–529, 2010), where four different genes/regions were identified as influencing risk to CL/P. Tagging SNPs for 33 different genes were genotyped (1,269 SNPs). All four of the genes originally identified as showing genome-wide significance (IRF6, ABCA4 and MAF, plus the 8q24 region) were confirmed in this independent sample of trios (who were primarily of European and Southeast Asian ancestry). In addition, eight genes classified as ‘second tier’ hits in the original study (PAX7, THADA, COL8A1/FILIP1L, DCAF4L2, GADD45G, NTN1, RBFOX3 and FOXE1) showed evidence of linkage and association in this replication sample. Meta-analysis between the original GWAS trios and these replication trios showed PAX7, COL8A1/FILIP1L and NTN1 achieved genome-wide significance. Tests for gene–environment interaction between these 33 genes and maternal smoking found evidence for interaction with two additional genes: GRID2 and ELAVL2 among European mothers (who had a higher rate of smoking than Asian mothers). Formal tests for gene–gene interaction (epistasis) failed to show evidence of statistical interaction in any simple fashion. This study confirms that many different genes influence risk to CL/P.
Starting Page	771
Ending Page	781
Page Count	11
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	132
Issue Number	7
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2013-03-20
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Human Genetics Molecular Medicine Gene Function Metabolic Diseases
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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Confirming genes influencing risk to cleft lip with/without cleft palate in a case–parent trio study

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