title: [Association between small ubiquitin-related modifier-1 gene polymorphism and non-syndromic oral clefting].
abstract: OBJECTIVE
  To investigate the association between small ubiquitin-related modifier-1 (SUMO-1) gene rs6709162, rs7599810, rs7580433 polymorphism and non-syndromic oral clefting (NSOC).
  
  
  METHODS
  Our study consisted of 208 Ningxia NSOC patients, their parents (189 fathers and 176 mothers), 172 nuclear families (patients and their parents), and 284 normal controls. DNA was extracted and polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) was used to identify rs6709162, rs7599810, rs7580433 genotypes of the samples. The data was analyzed by case-control analysis, family based associated test (FBAT), and transmission disequilibrium test (TDT).
  
  
  RESULTS
  Case-control study found that TT genotype's frequency was significantly different in cleft lip and cleft palate group compared with the control group at rs7599810 of SUMO-1 (P=0.01, P=0.01). TDT test showed that rs7599810's T allele had over-transmitted (P=0.00) in cleft lip and palate group. FBAT analysis revealed that distribution of rs7599810's TT genotype and T allele was significantly different (P=0.00, P=0.00). TDT test showed that rs6709162's C allele in cleft palate and cleft lip and palate patients had over-transmitted (P=0.00, P=0.01). rs7580433's G allele in cleft lip group had over-transmitted (P=0.05).
  
  
  CONCLUSIONS
  SUMO-1 gene polymorphism is associated with NSOC.
authors.affiliation: Postgraduate Administration Office, College of Stomatology, Ningxia Medical University, Yinchuan 750004, China.
authors.forename: Shengsheng
authors.initials: S
authors.lastname: Guo
authors.forename: Genxun
authors.initials: G
authors.lastname: Zhang
authors.forename: Yangyang
authors.initials: Y
authors.lastname: Wang
authors.forename: Jian
authors.initials: J
authors.lastname: Ma
authors.forename: Hongwang
authors.initials: H
authors.lastname: Ren
authors.forename: Guizhi
authors.initials: G
authors.lastname: Zhao
authors.forename: Yadi
authors.initials: Y
authors.lastname: Li
authors.forename: Bing
authors.initials: B
authors.lastname: Shi
authors.forename: Yongqing
authors.initials: Y
authors.lastname: Huang
mesh_terms: D016022:Case-Control Studies; D002524:Cerebellar Ataxia; D002971:Cleft Lip; D002972:Cleft Palate; D005260:Female; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D025842:SUMO-1 Protein / Q000235:genetics; D014452:Ubiquitins
chemical_list: D025842:SUMO-1 Protein; D014452:Ubiquitins