Association of hyaluronan and proteoglycan link protein 1 gene with the need of home oxygen therapy in premature Japanese infants with bronchopulmonary dysplasia

Abstract

Background

Bronchopulmonary dysplasia (BPD) has a lasting effect on the respiratory function of infants, imposing chronic health burdens. BPD is influenced by various prenatal, postnatal, and genetic factors. This study explored the connection between BPD and home oxygen therapy (HOT), and then we examined the association between HOT and a specific single-nucleotide polymorphism (SNP) in the hyaluronan and proteoglycan link protein 1 (HAPLN1) gene among premature Japanese infants.

Materials and methods

Prenatal and postnatal data from 212 premature infants were collected and analyzed by four SNPs (rs975563, rs10942332, rs179851, and rs4703570) around HAPLN1 using the TaqMan polymerase chain reaction method. The clinical characteristics and genotype frequencies of HAPLN1 were assessed and compared between HOT and non-HOT groups.

Results

Individuals with AA/AC genotypes in the rs4703570 SNP exhibited significantly higher HOT rates at discharge than those with CC homozygotes (odds ratio, 1.20, 95% confidence interval, 1.07–1.35, p = .038). A logistic regression analysis determined that CC homozygotes in the rs4703570 SNP did not show a statistically significant independent association with HOT at discharge.

Conclusions

Although our study did not reveal a correlation between HAPLN1 and the onset of BPD, we observed that individuals with CC homozygosity at the rs4703570 SNP exhibit a reduced risk of HOT.

Keywords:

• Hyaluronan and proteoglycan link protein 1
• bronchopulmonary dysplasia
• single-nucleotide polymorphism
• home oxygen therapy
• multicenter study

Author contributions

This study was conceptualized by FN. AS, HA, AI, EN, NN, SS, SA, AK, and FN obtained blood samples and collected clinical data from the infants, ensuring that proper informed consent was obtained from their families. MH and FN were responsible for processing the blood samples, and MI conducted real-time PCR and performed the statistical procedures. MI prepared the first draft, and all other authors provided substantial input toward developing the final version. YO and FN provided feedback on the methodology. All authors have read and agreed to the published version of the manuscript.

Ethical approval

This retrospective study was conducted under the approval of the ethical committee of Saitama Medical Center (Ethics Approval No. 829), Nihon University Itabashi Hospital (Ethics Approval No. 215-1), University of Occupational and Environmental Health (Ethics Approval No. seH28-01), and Akita Red Cross Hospital (Ethics Approval No. H26-11).

Consent form

Written informed consent was acquired from the parents of the patients.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Data availability statement

All data generated or analyzed during this study are included in this article. Further inquiries can be directed to the corresponding author.

Additional information

Funding

This study was funded by Saitama Medical Center Internal Research Grant for Young Physician Scientists (EN, Grant No. 01-F-1-14; AS, Grant No. 03-F-1-07).