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  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

de Assis, N. A., Nowak, S., Ludwig, K. U., Reutter, H., Vollmer, J., Heilmann, S., et al. (2011). 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. Int J Pediatr Otorhinolaryngol, 75(1), 49-52. Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=21044801 http://pdn.sciencedirect.com/science?_ob=MiamiImageURL&_cid=271188&_user=28761&_pii=S0165587610004726&_check=y&_origin=article&_zone=toolbar&_coverDate=31-Jan-2011&view=c&originContentFamily=serial&wchp=dGLzVlt-zSkWb&md5=8bd685418452287fbf0f7fe1b63a71c2/1-s2.0-S0165587610004726-main.pdf.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7997-5 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7998-3
Genre: Journal Article


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de Assis, N. A., Author
Nowak, S., Author
Ludwig, K. U., Author
Reutter, H., Author
Vollmer, J., Author
Heilmann, S., Author
Kluck, N., Author
Lauster, C., Author
Braumann, B., Author
Reich, R. H., Author
Hemprich, A., Author
Knapp, M., Author
Wienker, T. F.1, Author              
Kramer, F. J., Author
Hoffmann, P., Author
Nothen, M. M., Author
Mangold, E., Author
1Clinical Genetics (Thomas F. Wienker), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479643              


Free keywords: Alleles; Case-Control Studies; Cleft Lip/epidemiology/*genetics; Cleft Palate/epidemiology/*genetics; Europe, Eastern/epidemiology; Female; Genetic Association Studies; Genetic Predisposition to Disease/*epidemiology; Genetic Variation; Genotype; Humans; Incidence; Male; Pedigree; *Polymorphism, Single Nucleotide; SUMO-1 Protein/*genetics
 Abstract: OBJECTIVE: Studies in mice and humans have suggested that SUMO1, which codes for the small ubiquitin-related modifier 1 (SUMO1), is a promising candidate gene for non-syndromic cleft lip with or without cleft palate (NSCL/P). To investigate the possible involvement of this gene in NSCL/P patients from Central Europe, we performed: (i) a case control association study, and (ii) a resequencing study. METHODS: Genotyping and the subsequent single marker and haplotype association analyses were performed for 413 NSCL/P patients and 412 controls. A total of 17 tagging single-nucleotide polymorphisms (SNPs) were used. In the resequencing study, the complete coding region and splice sites were sequenced in 65 index patients from multiply affected families. RESULTS: One of the 17 tested SNPs (rs16838917) had a borderline significant P-value of 0.0416 in the single-marker association analysis. However, this result did not withstand correction for multiple testing (P(corr)=0.707). No association was observed for any haplotypic marker combination. Sequencing failed to identify any novel rare sequence variants. CONCLUSIONS: The results of the present study do not support the hypothesis that common or rare variants in SUMO1 play a significant role in the development of NSCL/P in Central-European patients. However, smaller effects of common variants or the presence of rare high penetrance mutations in other non-investigated familial cases cannot be excluded. Further analysis of SUMO1 in independent samples from Central European and other populations is therefore warranted.



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Title: Int J Pediatr Otorhinolaryngol
Source Genre: Journal
Publ. Info: -
Pages: - Volume / Issue: 75 (1) Sequence Number: - Start / End Page: 49 - 52 Identifier: ISSN: 1872-8464 (Electronic) 0165-5876 (Linking)