Fu Runxi,Wang Yang,Cai Wei.Association study of delta-ligand 3 (DLL3) gene with Hirschsprung’s disease susceptibility[J].Journal of Clinical Pediatric Surgery,,22():351-355.[doi:10.3760/cma.j.cn101785-202203030-010]
Association study of delta-ligand 3 (DLL3) gene with Hirschsprung’s disease susceptibility
- Keywords:
- Hirschsprung Disease; Etiology; Genes
- Abstract:
- Objective To explore the association between single nucleotide polymorphisms (SNPs) in delta-ligand 3(DLL3) gene and examine the susceptibility to Hirschsprung’s Disease (HSCR).Methods For this case-control study,104 cases of HSCR were recruited and 151 cases without a history of chronic constipation as control group.MassARRAY was performed for examining the five SNPs’ polymorphism in DLL3.The relationship between the risk of HSCR and different genotypes,allelic genes and haplotypes were compared.Results There were no statistical differences of 5 SNPs rs3786951/rs958728/rs2304214/rs3212276/rs10412931 genotype and allelic gene frequencies between HSCR and control group (P>0.05).Estimation of linkage disequilibrium for each pair of SNPs revealed strong linkage disequilibrium (D’＞0.7) for one group of markers (rs3786951-rs958728-rs2304214-rs3212276-rs10412931).The frequency of GGTAC haplotypes was higher in HSCR group than that in control group (11.9% vs.6.4%).Significant differences existed in susceptibility to HSCR (rs3786951-rs958728-rs2304214-rs3212276-rs10412931,P=0.049,OR=1.87,95%CI 0.99-3.50).Conclusion The GGTAC haplotypes of 5SNPs rs3786951,rs958728,rs2304214,rs3212276 and rs10412931 in DLL3 gene are associated with susceptibility to HSCR.However,no significant correlation exists between single SNP and HSCR.
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Memo
收稿日期:2022-3-11。
基金项目:上海市自然科学基金(22ZR1451500);上海市小儿消化与营养重点实验室(17DZ2272000)
通讯作者:蔡威,Email:caiw204@sjtu.edu.cn