中国NSCL/P人群GWAS初筛的29个SNP在宁夏人群的验证  

Validating of 29 SNPs Selected from the First GWAS Studies of Chinese Population within Non-syndromic Cleft Lip / Palate in Ningxia Population

作　　者：杜雪飞[1,2] 白云鹏 姜敏[3] 王怡瑞[4] 黄永清[5,2] 

机构地区：[1]宁夏医科大学口腔医学院,银川750004 [2]宁夏口腔医学研究所,银川750004 [3]生物芯片北京国家工程研究中心宁夏分中心,银川750004 [4]清华大学医学院,北京100084 [5]宁夏医科大学总医院口腔科,银川750004

出　　处：《宁夏医科大学学报》2015年第8期887-892,共6页Journal of Ningxia Medical University

基　　金：国家自然科学基金(81160131);宁夏自然科学基金(NZ14116)

摘　　要：目的选取中国非综合征型唇腭裂(NSCL/P)人群全基因组关联分析(genome wide association studies,GWAS)第一阶段研究中达到统计学意义但并未参与一期验证的29个单核苷酸多态性(SNP)位点,在宁夏人群中验证,以期发现与非综合征型唇腭裂相关的有意义的SNP。方法收集宁夏地区NSCL/P患者505例,其中回族262例,汉族243例;正常新生儿对照751例,其中回族333例,汉族418例。通过sequenom平台进行基因分型,结果进行H-W平衡检验;通过PLINK1.0.7软件的Logistic回归统计方法对基因分型结果进行分析;等位基因频率进行病例-对照分析的χ2检验。结果 (1)6号染色体rs12193964的等位基因、基因型在回汉NSCL/P患者中与相应对照组比较差异有统计学意义(P=0.05,P=0.038);进行民族分层后,分别在在回族样本、汉族样本中,与相应对照组比较差异均无统计学意义(P>0.05);(2)10号染色体rs117819323等位基因、基因型在回族患者中与相应对照组比较差异有统计学意义(P=0.03,P=0.01),分别在回汉族患者、汉族患者中与相应对照组比较差异均无统计学意义(P>0.05);(3)其余27个SNP位点的等位基因及基因型在相应组别中与对照组比较差异均无统计学意义(P>0.05)。结论 rs12193964和rs117819323与宁夏地区回汉族人群非综合征性唇腭裂发病相关;其余27个SNP位点与宁夏地区非综合征型唇腭裂的发病不相关。Objective To explore if there is associations of 29 gene polymorphism locis selected from the first GWAS studies of Chinese population with non-syndromic cleft lip / palate( NSCL / P) in Ningxia Hui and Han population. and to find the positive locis contributing to non-syndromic cleft lip with or without cleft palate( NSCL / P). Methods The study recruited 505 NSCL / P patients( Han = 262 cases,Hui = 243cases) and751 unaffected control( Han = 333 cases,Hui = 418cases) at Ningxia medical university hospital. Sequenom platform were used to 29 SNPs for geneotyping. H-W test and Condition logistic regession were used to analyze the data. Results( 1) Allele frequency and geneotype analysis demonstrated significant differences between patients and controls in total samples at rs12193964 on chromosome 6( P = 0. 05,P = 0. 038),while no difference was found in either Hui or Han samples for the same louc( P > 0. 05).( 2) There were significant differences between patients and controls in Hui samples at rs117819323 on chromosome 10( P = 0. 03,P =0. 01),and no significant differences were found in other two samples( P > 0. 05).( 3) Allele frequency and geneotype compare analysis of other 27 SNPs showed no difference between patients and controls. Conclusion rs12193964 single nucleotide polymorphism has significant associated with a total of Ningxia population.rs117819323 has significant associated with Ningxia Hui ethnicities. Other 27 SNPs were not associated with the pathogenesis of NSCL / P in Ningxia population.

关 键 词：非综合征型唇腭裂 全基因组关联研究 单核苷酸多态位点 

分 类 号：R782.21[医药卫生—口腔医学]