Validating Of 29 SNPs Selected From The First GWAS Studies Of Chinese Population Withing Non-syndromic Cleft Lip/palate In Ningxia Population

Objective Nonsyndromic cleft lip with or without cleft palate(NSCL/P) is one of the most common congenital malformations with a prevalence of 1.82‰ live births in China. Genetic and environmental factors are involved in the pathogenesis of nonsyndromic cleft lip with or without cleft palate(NSCL/P).,For the study etiology of NSCL/P to date a genome wide linkage studies, four GWASs, have been complete.and also a GWAS meta analysis of NSCL/P involving in European-Asian trios followed by those.Based on these data,12 loci associated with NSCL/P are now identified and replicated on chromosomes 1p22,1p36, 2p21, 3p11.1, 8q21.3, 8q24, 9q22, 10q25, 15q22,17p13, 17q22, and 20q12.But these results are mainly based on the Caucasus white people and a few number of Asian,furthermore which has not yet been confirmed by large nember persons in Asia.In addition, nonsyndromic cleft lip with or without cleft palate(NSCL/P) have heritage heterogeneity,and presenting the differences in ethnic and geographical,The identifide loucs of GWAS maybe different in a indep endent people in the whole world.A Genome-wide association studies(GWAS) of nonsyndromic cleft lip with or without cleft palate about chinese people have been finish-ed,but the data obtained the study have not been replicated in Asin race.So a validation reseach of GWAS identifiregeions in Asin Should be done as soos as possible.Methods Therefore in this study we appliy sequenom platform to 29 SNPs selected from the primary phase of GWAS of NSCL/P in Chinese people for geneotyping in ningxia Han and Hui population aming to finding significant association gene regeions or loucs,and caculating the contribution of which to ningxia people,Accumulating data for ningxia regeion gene database.Selection criteria of 29 SNPs :P<10-6,no high lingkage relationship between any two loucs;while Linkage disequilibrium( LD)>0.8,we only Choose the smaller significant louc,Otherwise,two lous will be choosen.The study we recruit 505 NSCL/P patients(Han=262,Hui =243)and 751 unaffected control(han=333,hui=418)at Ningxia Medical University Hospital,Sequenom platform are used to 29 SNPs for geneotyping, data results will be do H-W test.Condition logistic regessiong will be used to result analysis under the software of PLINK1.07.Result Allele frequency and geneotype compare analysis demonstriting significant differences between pati-contr in total sample at rs12193964 on chromosome 6(P=0.05,P=0.03814), while no differences showing in ether hui or han sample for the same louc(P>0.05); There were significant differences between pati-contr in hui sample at rs117819323 on chromosome 10(P=0.03,P= 0.01361),and no significant differences were found in other two sample(P>0.05); Allele frequency and geneotype compare analysis of other 27 SNPs showing no differences at any sample people.Conclusions rs12193964 single nucleotide polymorphism has significant associated with a total of Ningxia population; rs117819323 has significant associated with Ningxia hui population,but not Ningxia han population; Other 27 SNPs were not associated with the pathogenesis of NSCL/P in Ningxia region population.