SUMO1 polymorphisms are associated with non-syndromic cleft lip with or without cleft palate.
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.
Song
Tao
T
Department of Oral Maxillofacial Surgery, School of Stomatology, Harbin Medical University, Harbin, China.
Li
Guolin
G
Jing
Guangping
G
Jiao
Xiaohui
X
Shi
Jinna
J
Zhang
Bing
B
Wang
Li
L
Ye
Xiangmei
X
Cao
Fenglin
F
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
D025842:SUMO-1 Protein; C495501:SUMO1 protein, human