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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

MPG-Autoren
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Wienker,  T. F.
Clinical Genetics (Thomas F. Wienker), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Zitation

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.


Zitierlink: https://hdl.handle.net/11858/00-001M-0000-0010-7997-5
Zusammenfassung
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.