Association of R405Q polymorphism of GLI1 gene with tetralogy of fallot

VernacularTitle:脑胶质瘤相关癌基因同源1基因R405Q多态与法洛四联症的相关性研究
Author: Guangrong QIU ; Peiyan LIU ; Hongkun JIANG ; Hongbo LIU ; Kailai SUN
Publication Type:Journal Article
Keywords: Tetralogy of Fallot; GLI1 gene; Gene polymorphism
From: Clinical Medicine of China 2011;27(9):897-900
CountryChina
Language:Chinese
Abstract: ObjectiveTo investigate the association between R405Q polymorphism of GLI1 gene and tetralogy of fallot(TOF).Methods In the case-control study,the R405Q polymorphism of GLI1 gene in 112 children with TOF and 200 healthy controls were detected with polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP).The distribution of genotype and allele frequency at R405Q polymorphism site were analyzed and to investigate its relationship with the risk of TOF.ResultsThe distribution of genotype frequency at R405Q polymorphism site was not different between TOF group and the healthy control group(x2 =5.317 ,P = 0.07) .However, the distribution of allele frequency at R405Q polymorphism site was significantly different between TOF group and the healthy control group (x2 = 6.790, P = 0.009) , and the relative risk for TOF in A allele carriers was higher than that in G allele carriers (OR = 1.561,95％ CI 1.116 ～ 2.185) Conclusion The R405Q polymorphism of GLI1 gene is associated with TOF and people with A allele have higher risk with TOF.GLI1 gene might be the genetic susceptibility gene of TOF.