Dataset Information

The association between polymorphisms in PITX2 and congenital esophageal atresia susceptibility.

ABSTRACT:

Objective

This study aims to investigate and analyze the connection between PITX2 polymorphisms and the susceptibility of congenital esophageal atresia.

Methods

From January 2015 to June 2020, 46 children with congenital esophageal atresia undergoing surgery were recruited for the study and placed in an observation group, and 40 neonates born in pediatrics during the same period were also recruited for the study and placed in a control group. The alleles and distribution frequencies of the polymorphisms of PITX2 gene rs2200733 were analyzed, and the odds ratio (OR) of esophageal atresia caused by the rs2200733 polymorphism were calculated using a logistic analysis.

Results

In the observation group, there were 23 patients (50.00%) with the TT genotype of rs2200733, 21 patients with the TC genotype (45.65%), and 2 patients with the CC genotype (4.35%). In the control group, there were 13 patients with the TT genotype (32.50%), 17 patients with the TC genotype (42.50%), and 10 patients with the CC genotype (25.00%), and the differences in the genotypes between the two groups were statistically significant (P<0.05). The frequencies of the T-alleles and C-alleles of rs2200733 in the observation group were 72.83% and 27.17% respectively, while the frequencies of the control group were 53.75% and 46.25% respectively, and the differences in the rs2200733 allele frequencies were statistically significant (P>0.05). Taking the CC genotype as a reference, the neonates with the TC genotype (OR=2.978, 95% CI=1.084~7.952, P=0.042) or the neonates with the TT genotype (OR=4.778, 95% CI=1.208~13.492, P=0.009) had an increased risk of esophageal atresia, of which the TT genotype indicated a higher risk.

Conclusion

The polymorphic site rs2200733 (T/C) of the PITX2 gene is connected to the incidence of congenital esophageal atresia. The T-allele is a risk factor for congenital esophageal atresia, and compared with the CC genotype, the TT genotype has an increased risk of esophageal atresia.

SUBMITTER: Ke J

PROVIDER: S-EPMC8430062 | biostudies-literature |

REPOSITORIES: biostudies-literature

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