Zhonghua nei ke za zhi · 2015
[Association between Tbx20 gene polymorphism and congenital atrial septal defects].
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Ma Yulong, Xiang Yang, Li Xiaomei, Yang Yining, Ma Yitong, Xie Xiang, Liu Fen
Аннотация
OBJECTIVE: To investigate the association between single nucleotide polymorphisms (SPN) of Tbx20 gene and congenital atrial septal defects (ASD) in the Xinjiang Han population.
METHODS: A total of 214 ASD patients and 382 controls were included in the present study. Two SNPs (rs17675131, rs4720169) in Tbx20 gene were genotyped by TaqMan SNP genotyping method.
RESULTS: The distribution of the rs17675131 of Tbx20 were significantly different between normal controls and ASD patients (P = 0.014), in which both the A/G allele distribution (P = 0.004) and the dominant model (GG vs AG + AA) were significantly different between the 2 groups (P = 0.007, OR = 0.626). Same is true for the rs4720169 SNP. Its genotype showed significantly different distributions between the 2 groups (P = 0.016) specifically for the A/G allele distribution frequencies (P = 0.016) and the recessive model (AA vs AG + GG) (P = 0.008, OR = 1.96). The A-A haplotype was found to be associated with ASD.
CONCLUSION: Both rs17675131 and rs4720169 of Tbx20 gene are associated with congenital ASD in the Xinjiang Han population in China.
METHODS: A total of 214 ASD patients and 382 controls were included in the present study. Two SNPs (rs17675131, rs4720169) in Tbx20 gene were genotyped by TaqMan SNP genotyping method.
RESULTS: The distribution of the rs17675131 of Tbx20 were significantly different between normal controls and ASD patients (P = 0.014), in which both the A/G allele distribution (P = 0.004) and the dominant model (GG vs AG + AA) were significantly different between the 2 groups (P = 0.007, OR = 0.626). Same is true for the rs4720169 SNP. Its genotype showed significantly different distributions between the 2 groups (P = 0.016) specifically for the A/G allele distribution frequencies (P = 0.016) and the recessive model (AA vs AG + GG) (P = 0.008, OR = 1.96). The A-A haplotype was found to be associated with ASD.
CONCLUSION: Both rs17675131 and rs4720169 of Tbx20 gene are associated with congenital ASD in the Xinjiang Han population in China.