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Published on: August 15, 2019
The association between polymorphisms in PITX2 and congenital esophageal atresia susceptibility
Jiangwei Ke1, Junfeng Tao2, Kuai Chen2
1Department of Clinical Laboratory, Jiangxi Provincial Children's Hospital Nanchang 330006, Jiangxi, China.
Insights
The PITX2 gene
Area of Science:
- Genetics and Developmental Biology
- Pediatric Surgery
- Molecular Medicine
Background:
- Congenital esophageal atresia (CEA) is a complex birth defect with multifactorial etiology.
- Genetic factors are implicated in CEA pathogenesis, but specific gene associations require further elucidation.
- The PITX2 gene plays a crucial role in embryonic development, making it a candidate for investigating CEA susceptibility.
Purpose of the Study:
- To investigate the association between PITX2 gene polymorphisms and the risk of congenital esophageal atresia.
- To analyze the allelic and genotypic frequencies of PITX2 rs2200733 in CEA patients and controls.
- To determine the odds ratio (OR) for CEA associated with specific rs2200733 genotypes.
Main Methods:
- A case-control study was conducted with 46 CEA patients and 40 healthy neonates.
- Genotyping of the PITX2 rs2200733 (T/C) polymorphism was performed using logistic analysis.
- Allele and genotype frequencies were compared between the observation and control groups.
Main Results:
- Significant differences in rs2200733 genotype distribution were observed between CEA patients and controls (P<0.05).
- The T-allele frequency was higher in the CEA group (72.83%) compared to controls (53.75%) (P>0.05).
- The TT genotype (OR=4.778) and TC genotype (OR=2.978) were associated with an increased risk of congenital esophageal atresia compared to the CC genotype.
Conclusions:
- The PITX2 rs2200733 polymorphism is significantly associated with congenital esophageal atresia susceptibility.
- The T-allele of PITX2 rs2200733 acts as a risk factor for CEA.
- Individuals with the TT genotype of PITX2 rs2200733 exhibit a substantially elevated risk of developing congenital esophageal atresia.
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.
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