SUMO1 as a candidate gene for non-syndromic cleft lip with or without cleft palate: No evidence for the involvement of common or rare variants in Central European patients

2011 ◽  
Vol 75 (1) ◽  
pp. 49-52 ◽  
Author(s):  
Nilma Almeida de Assis ◽  
Stefanie Nowak ◽  
Kerstin U. Ludwig ◽  
Heiko Reutter ◽  
Jennifer Vollmer ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Candidate Gene ◽  
Cleft Lip ◽  
Rare Variants ◽  
Central European

scholarly journals PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses

2005 ◽  
Vol 51 (1) ◽  
pp. 38-46 ◽  
Author(s):  
Eisaburo Ichikawa ◽  
Akira Watanabe ◽  
Yoko Nakano ◽  
Sadanori Akita ◽  
Akiyoshi Hirano ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Candidate Gene ◽  
Japanese Population ◽  
Cleft Lip ◽  
Population Based ◽  
Family Based

Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate

2015 ◽  
Vol 36 (11) ◽  
pp. 1029-1033 ◽  
Author(s):  
Luciano Abreu Brito ◽  
Guilherme Lopes Yamamoto ◽  
Soraia Melo ◽  
Carolina Malcher ◽  
Simone Gomes Ferreira ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Rare Variants ◽  
Genetic Etiology ◽  
Epithelial Cadherin

Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate

2008 ◽  
Vol 116 (3) ◽  
pp. 287-290 ◽  
Author(s):  
Marcella Martinelli ◽  
Marzia Arlotti ◽  
Annalisa Palmieri ◽  
Luca Scapoli ◽  
Anna Savoia ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Candidate Gene ◽  
Cleft Lip

scholarly journals Genome Scan, Fine-Mapping, and Candidate Gene Analysis of Non-Syndromic Cleft Lip with or without Cleft Palate Reveals Phenotype-Specific Differences in Linkage and Association Results

2009 ◽  
Vol 68 (3) ◽  
pp. 151-170 ◽  
Author(s):  
Mary L. Marazita ◽  
Andrew C. Lidral ◽  
Jeffrey C. Murray ◽  
L.Leigh Field ◽  
Brion S. Maher ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Candidate Gene ◽  
Fine Mapping ◽  
Cleft Lip ◽  
Genome Scan ◽  
Gene Analysis ◽  
Candidate Gene Analysis

scholarly journals EvaluatingSKIas a candidate gene for non-syndromic cleft lip with or without cleft palate

2012 ◽  
Vol 120 (5) ◽  
pp. 373-377 ◽  
Author(s):  
Elisabeth Mangold ◽  
Heiko Reutter ◽  
Rafael B. R. León-Cachón ◽  
Kerstin U. Ludwig ◽  
Stefan Herms ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Candidate Gene ◽  
Cleft Lip

scholarly journals Role of ARHGAP29 nucleotide variants in the etiology of non-syndromic cleft lip with or without cleft palate.

2020 ◽  
Vol 89 (2) ◽  
pp. e414
Author(s):  
Justyna Dąbrowska ◽  
Barbara Biedziak ◽  
Agnieszka Lasota ◽  
Paweł P. Jagodziński ◽  
Adrianna Mostowska
Keyword(s):  
Cleft Palate ◽  
Candidate Gene ◽  
Cleft Lip ◽  
Association Studies ◽  
Missense Variant ◽  
P Value ◽  
Genome Wide Association Studies ◽  
Polish Population ◽  
Increased Risk ◽  
Strong Candidate

Aim. Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a common birth defect of complex and heterogeneous aetiology. Genome-wide association studies (GWAS) of nsCL/P have identified an association for the 1p22.1 chromosomal region, in which ARHGAP29 was suggested as a candidate gene. Thus, the current study aimed to determine the contribution of the common and rare ARHGAP29 nucleotide variants to the risk of nsCL/P in the Polish population. Material and Methods. In total,197 common nucleotide variants (SNVs) and 22 missense variants located within the ARHGAP29 locus at chromosome 1p22.1 were genotyped by SNV microarray. The study was conducted in 269 individuals with nsCL/P and 569 healthy individuals. Results. Statistical analysis revealed that 31 common nucleotide variants located at the ARHGAP29 locus were significantly associated with the increased risk of nsCL/P. The strongest individual SNV was rs2391467 with a p-value = 2.49E-06 (OR = 1.64, 95%CI: 1.34–2.02). Besides, one potentially deleterious missense variant (rs140877322, p. Arg348Leu) was identified in a single patient with nsCLP. Conclusion. These findings confirm ARHGAP29 as a strong candidate gene for nsCL/P, with both common and rare nucleotide variants of this gene involved in the aetiology of nsCL/P in the Polish population.

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