Association between small ubiquitin-related modifier-1 gene polymorphism and non-syndromic oral clefting.

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 pa-rents), and 284 normal controls. DNA was extracted and polymerase chain reaction-restriction fragment length poly-morphisms (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 rs75-99810'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). Conclusion SUMO-1 gene polymorphism is associated with NSOC. [ABSTRACT FROM AUTHOR]