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Human Genetics
Article
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Human Genetics
Article . 2013 . Peer-reviewed
License: Springer TDM
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Human Genetics
Article . 2013
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Confirming genes influencing risk to cleft lip with/without cleft palate in a case–parent trio study

Authors: T. H. Beaty; M. A. Taub; A. F. Scott; J. C. Murray; M. L. Marazita; H. Schwender; M. M. Parker; +9 Authors

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

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.

Countries
Turkey, Italy
Keywords

Male, Genetica medica; Labiopalatoschisi, Genetic Linkage, Cleft Lip, Polymorphism, Single Nucleotide, White People, Cleft Palate, MARKERS, Asian People, Meta-Analysis as Topic, LOCUS, Humans, Female, GENOME-WIDE ASSOCIATION, ENVIRONMENT INTERACTIONS, Genome-Wide Association Study

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
128
Top 10%
Top 10%
Top 1%
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bronze