ADAMTS17基因多态性与宁夏人群非综合征型唇裂伴或不伴腭裂的相关性研究

Association between ADAMTS17 Gene Polymorphism and Non-syndromic Cleft Lip with or without Cleft Palate in Ningxia Population

目的探讨ADAMTS17基因多态性与宁夏人群非综合征型唇裂伴或不伴腭裂(NSCL±P)的相关性。方法收集宁夏医科大学总医院口腔颌面外科的NSCL±P患儿(病例组)血样454例,留取外周血5mL,正常新生儿(对照组)435例,留取脐带血5mL,提取基因组DNA。选取ADAMTS17基因上的341个常见SNP,进行基因分型后,用Haploview软件进行对照组Hardy-Weinberg平衡检验,相关性检验,连锁和单倍型分析。结果病例组和对照组rs7171763、rs79564799的等位基因频数(P=0.024、0.038)和基因型频数(P=0.009、0.029)差异有统计学意义。连锁分析后得到了55个单体型块,其中11个单体型在病例组和对照组之间差异有统计学意义(P<0.05)。结论ADAMTS17基因的rs7171763、rs79564799位点多态性变异与宁夏人群NSCL±P发病相关。

Objective To investigate the correlation between ADAMTS17 gene polymorphisms and non-syndromic cleft lip with or without cleft palate(NSCL±P) in Ningxia population. Methods Blood samples were collected from 454 children with NSCL±P in the Department of Oral and Maxillofacial Surgery at General Hospital of Ningxia Medical University,and 435 healthy neonatal umbilical cord blood samples were collected from the hospital during the same period,5mL blood each person. Total 341 SNPs of ADAMTS17 gene were selected. After genomic DNA was extracted and genotyping was performed,Hardy-Weinberg test was performed in the control group, correlation test,linkage and haplotype analysis was performed by the Haploview software. Results The genotype frequency and allele frequency of rs7171763 and rs79564799 were statistically different between the two groups(rs7171763,P=0.009,P=0.024;rs79564799,P=0.029,P=0.038). After the linkage analysis of the experimental data, 55 linkage blocks were found, among which 11 haplotype combinations were statistically different between the two groups. Conclusion The polymorphic variations of rs7171763 and rs79564799 of ADAMTS17 are related to the incidence of NSCL±P in Ningxia population of China.