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Studying Wnt Signaling During Patterning of Conducting Airways
Published on: October 16, 2016
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Bronchopulmonary dysplasia and wnt pathway-associated single nucleotide polymorphisms
Ayberk Akat1, Seda Yilmaz Semerci2, Osman Mutluhan Ugurel1,3
1Bioengineering Department, Faculty of Chemical and Metallurgical Engineering, Yıldız Technical University, Davutpasa, Istanbul, Turkey.
Pediatric Research
|December 2, 2021
Summary
Genetic variants are linked to bronchopulmonary dysplasia (BPD) risk in premature infants. This study identified eight single nucleotide polymorphisms (SNPs) associated with BPD, highlighting the WNT pathway
Area of Science:
- Genetics
- Neonatology
- Pulmonology
Background:
- Bronchopulmonary dysplasia (BPD) is a significant complication in preterm infants.
- Genetic factors are increasingly recognized for their contribution to BPD pathogenesis.
- Identifying specific genetic risk factors is crucial for understanding BPD development.
Purpose of the Study:
- To evaluate the association of 45 single nucleotide polymorphisms (SNPs) with BPD susceptibility in a Turkish premature infant cohort.
- To investigate the role of genetic variants in the development of BPD.
- To explore potential interactions between genes involved in BPD pathogenesis.
Main Methods:
- A cohort of 192 premature infants (gestational age <32 weeks) was studied.
- Infants were categorized into BPD and no-BPD groups based on oxygen requirements at 28 days.
- Genotyping was performed for 45 pre-identified BPD risk SNPs.
Main Results:
- Eight SNPs showed association with BPD risk at the allele level.
- Two SNPs (rs4883955 on KLF12 and rs9953270 on CHST9) were significant at both allele and genotype levels.
- In-silico analysis suggested functional interactions among five genes, converging on WNT5A, implicating the WNT pathway in BPD.
Conclusions:
- Specific SNPs in genes like KLF12 and CHST9 may contribute to BPD pathogenesis.
- The WNT pathway, particularly WNT5A, appears to play a role in BPD development.
- Further research into Wnt pathway-related SNPs is warranted for potential therapeutic targets.
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