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Susceptibility locus for non-syndromic cleft lip with or without cleft palate on chromosome 10q25 confers risk in Estonian patients.

作者信息

Nikopensius Tiit, Birnbaum Stefanie, Ludwig Kerstin U, Jagomägi Triin, Saag Mare, Herms Stefan, Knapp Michael, Hoffmann Per, Nöthen Markus M, Metspalu Andres, Mangold Elisabeth

机构信息

Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.

出版信息

Eur J Oral Sci. 2010 Jun;118(3):317-9. doi: 10.1111/j.1600-0722.2010.00741.x.


DOI:10.1111/j.1600-0722.2010.00741.x
PMID:20572868
Abstract

Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common birth defects and has a multifactorial etiology that includes both genetic and environmental factors. Recently, two novel susceptibility loci and three suggestive loci for NSCL/P were identified by a genome-wide association scan (GWAS) in a German population with subsequent independent replication in a mixed European population. The aim of the present study was to investigate whether these newly detected loci confer similar effects in the North-East European Baltic population. A total of 101 NSCL/P patients and 254 controls from Estonia were included. A significant association was observed for rs7078160 (P = 0.0016) at chromosome 10q25, which confirms the association of this locus with NSCL/P in the Baltic population. No significant association was found for the other four loci, a result that may have been attributable to the limited power of the sample.

摘要

相似文献

[1]
Susceptibility locus for non-syndromic cleft lip with or without cleft palate on chromosome 10q25 confers risk in Estonian patients.

Eur J Oral Sci. 2010-6

[2]
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Birth Defects Res A Clin Mol Teratol. 2010-7

[3]
IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate.

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[4]
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[5]
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[6]
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[7]
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[8]
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Br J Oral Maxillofac Surg. 2015-1

[9]
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[10]
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引用本文的文献

[1]
Association of with Non-Syndromic Cleft Lip with or without Cleft Palate in a Japanese Population.

Genes (Basel). 2025-7-24

[2]
Genetic-epigenetic interactions (meQTLs) in orofacial clefts etiology.

medRxiv. 2025-2-12

[3]
Genetic markers for non-syndromic orofacial clefts in populations of European ancestry: a meta-analysis.

Sci Rep. 2022-1-24

[4]
Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate.

Epigenomics. 2019-1-14

[5]
Polymorphic variants in VAX1 and the risk of nonsyndromic cleft lip with or without cleft palate in a population from northern China.

Medicine (Baltimore). 2017-4

[6]
A Clustered Multiclass Likelihood-Ratio Ensemble Method for Family-Based Association Analysis Accounting for Phenotypic Heterogeneity.

Genet Epidemiol. 2016-9

[7]
Rare functional variants in genome-wide association identified candidate genes for nonsyndromic clefts in the African population.

Am J Med Genet A. 2014-10

[8]
TGFA and IRF6 contribute to the risk of nonsyndromic cleft lip with or without cleft palate in northeast China.

PLoS One. 2013-8-6

[9]
Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P).

Am J Med Genet A. 2013-3-5

[10]
Genetics and management of the patient with orofacial cleft.

Plast Surg Int. 2012

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