Asscoation Of The TERT, MATN1 Gene Polymorphisms And NSCL/P In Ningxia Population

Objective The etiology of non-syndromic cleft lip and palate is complex,and the screening of susceptible genes is still a hot and difficult point in etiological research.this study is based on TERT and MATN1 genes screened by exon capture and sequencing of the whole genome of all families,but there are few reports on the correlation between NSCLP and cleft lip and palate at home and abroad.this study intends to use a case-control study.To verify whether single nucleotide polymorphisms of TERT and MATN1 genes are associated with non-syndromic cleft lip with or without cleft palate(NSCL/P)in Ningxia population.Methods Patients with cleft lip and palate who were treated in the Department of Oral and Maxillofacial surgery of Ningxia Medical University General Hospital from January2014 to December 2018 were collected.and a total of 504 people(302 males and 202 females)were included in the study,and the samples met the inclusion criteria of the case group..A total of 455 infants(214 males and 241 females)born in the obstetrics department of the General Hospital of Ningxia Medical University in the same period were included as the control group.All the samples met the inclusion criteria of the control group.The whole venous blood of the case group was collected 5ml,and the umbilical cord blood of the control group was 5ml.Extraction of genomic DNA.11 tagSNP loci were selected from TERT gene and 5 tagSNP loci were selected from MATN1.AgriSeqTM targeted sequencing technique was used for genotyping.Case-control study,linkage analysis and haplotype analysis wereused to explore whether the polymorphism of the above genes was associated with NSCLP by case-control study,linkage analysis and haplotype analysis.Results(1)TERT gene: 11 SNPs loci of rs33954691,rs11133715,rs2736115,rs4246742,rs56345976,rs33963617,rs10069690,rs4975538,rs2736100,rs2853677 and rs2736109 in the control group were in accordance with Hardy–Weinberg equilibrium.The allele frequency and genotype frequency of rs33963617 SNP locus were significantly different between the case group and the control group(P <0.05).OR=1.493,95%CI(1.078-2.068).There was no significant linkage relationship among 11 SNPs loci,and there was no significant difference among haplotypes.(2)MATN1 gene: the five SNPs loci of rs1188402,rs79516330,rs1149045,rs1149046 and rs3828051 in the control group were in accordance with Hardy–Weinberg equilibrium.There was no significant linkage relationship among the five TagSNPs loci,and there was no significant difference in allele frequency,genotype frequency and haplotype analysis.Conclusion In this study,the rs33963617 SNP loci of TERT gene were associated with the occurrence of NSCLP in NINGXIA population,while the TagSNP loci of MATN1 gene were not significantly correlated with NSCLP in Ningxia population.