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Biochem Biophys Res Commun. 2008 Dec 26;377(4):1265-8. doi: 10.1016/j.bbrc.2008.10.138. Epub 2008 Nov 5.

SUMO1 polymorphisms are associated with non-syndromic cleft lip with or without cleft palate.

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  • 1Department of Oral Maxillofacial Surgery, School of Stomatology, Harbin Medical University, Harbin, China.


Small ubiquitin-like modifier 1 (SUMO1) haploinsufficiency results in cleft lip and palate in animal models. However, no studies have linked SUMO1 to non-syndromic cleft lip with or without cleft palate (NSCLP) in humans. In the present study, we investigated the potential association between SUMO1 single nucleotide polymorphisms (SNPs) and risk for human NSCLP. From 181 patients and 162 healthy controls, we found statistically significant correlations between a 4-SNP SUMO1 haplotype and NSCLP. These data are the first to suggest a role for SUMO1 gene variation in human NSCLP development.

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