title: SUMO1 polymorphisms are associated with non-syndromic cleft lip with or without cleft palate.
abstract: 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.
authors.affiliation: Department of Oral Maxillofacial Surgery, School of Stomatology, Harbin Medical University, Harbin, China.
authors.forename: Tao
authors.initials: T
authors.lastname: Song
authors.forename: Guolin
authors.initials: G
authors.lastname: Li
authors.forename: Guangping
authors.initials: G
authors.lastname: Jing
authors.forename: Xiaohui
authors.initials: X
authors.lastname: Jiao
authors.forename: Jinna
authors.initials: J
authors.lastname: Shi
authors.forename: Bing
authors.initials: B
authors.lastname: Zhang
authors.forename: Li
authors.initials: L
authors.lastname: Wang
authors.forename: Xiangmei
authors.initials: X
authors.lastname: Ye
authors.forename: Fenglin
authors.initials: F
authors.lastname: Cao
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000150:complications / Q000235:genetics*; D002972:Cleft Palate / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D025842:SUMO-1 Protein / Q000235:genetics*; D055815:Young Adult
chemical_list: D025842:SUMO-1 Protein; C495501:SUMO1 protein, human