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目的探讨小泛素化修饰基因-1(SUMO-1)rs6709162、rs7599810和rs7580433位点单核苷酸多态性与非综合征型唇腭裂(NSOC)的相关性。方法收集宁夏地区NSOC患者208例、患者父亲189例、患者母亲176例、完整核心家系(患者及其父母)172个进行研究,并收集正常新生儿284例作为对照。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测SUMO-1基因多态位点rs6709162、rs7599810和rs7580433基因型,并进行病例对照分析、传递不平衡检验(TDT)和以家系为基础的相关性检验(FBAT)。结果病例对照研究发现:SUMO-1基因rs7599810位点的TT基因型频率在唇裂、腭裂组与对照组比较有统计学差异(P=0.01,P=0.01)。TDT分析结果:rs7599810位点的T等位基因在唇腭裂组中存在过传递(P=0.00);rs6709162位点的C等位基因在腭裂和唇腭裂组中存在过传递(P=0.00,P=0.01);rs7580433位点的G等位基因在唇裂组中存在过传递(P=0.05)。FBAT分析结果:rs7599810位点TT基因型和T等位基因的分布具有统计学意义(P=0.00,P=0.00)。结论 SUMO-1基因多态性与NSOC存在相关性。
Objective To investigate the association between single nucleotide polymorphisms of small ubiquitination modified gene -1 (SUMO-1) rs6709162, rs7599810 and rs7580433 and nonsyndromic cleft lip and palate (NSOC). Methods A total of 208 patients with NSOC in Ningxia were enrolled, 189 patients were father, 176 mothers, 172 complete nuclear families (patients and their parents), and 284 normal newborns were collected as control. The polymorphisms of rs6709162, rs7599810 and rs7580433 of SUMO-1 gene were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), and the case-control analysis, transmission disequilibrium test (TDT) Family-based correlation test (FBAT). Results The case-control study found that TT genotype frequency of rs7599810 in SUMO-1 gene was significantly different between cleft lip and cleft palate group and control group (P = 0.01, P = 0.01). TDT analysis showed that the T allele of rs7599810 was overexpressed in the cleft lip and palate group (P = 0.00). The allele C of rs6709162 was overexpressed in cleft palate and cleft lip and palate (P = 0.00, P = 0.01). The G allele of rs7580433 was overexpressed in cleft lip (P = 0.05). The results of FBAT analysis showed that the distribution of TT genotype and T allele of rs7599810 was statistically significant (P = 0.00, P = 0.00). Conclusion There is a correlation between SUMO-1 gene polymorphism and NSOC.