Association of Bach1 Gene Polymorphisms with Susceptibility to Bronchopulmonary Dysplasia in Preterm Infants

Background: BTB and CNC homology 1 (Bach1) are transcriptional regulators involved in the oxidative response and inflammation. Although its biological functions are well characterized, the clinical impact of Bach1 gene polymorphisms (rs2300301, rs1153285, and rs2070401) on respiratory outcomes in preterm infants remains unclear. Methods: This multicenter study included 212 Japanese preterm infants born at <32 weeks of gestation with birth weights <1250 g. Three Bach1 single-nucleotide polymorphisms (SNPs; rs2300301, rs1153285, and rs2070401) were genotyped using TaqMan polymerase chain reaction (PCR). The requirements for home oxygen therapy (HOT) were compared across genotypes. Logistic regression analyses were performed after adjusting for the gestational age, sex, birth weight, and histological chorioamnionitis status. Results: Infants requiring HOT had a significantly lower gestational age (26 ± 1.7 weeks vs. 27 ± 2.2 weeks, p = 0.015) and lower birth weight (774 ± 235 g vs. 818 ± 233 g, p = 0.043) than those who did not. Histological chorioamnionitis was more prevalent in the HOT group (p = 0.022). rs2300301 was associated with HOT in univariate analysis (OR = 1.78, 95% CI: 1.20-2.04, p = 0.015). However, this association did not remain statistically significant after adjustment for gestational age, sex, birth weight, and histological chorioamnionitis (OR = 2.48, 95% CI: 0.90-6.80, p = 0.079). The rs1153285 and rs2070401 SNPs were not significantly associated with HOT expression. Conclusions: Our findings suggest a potential association between the Bach1 rs2300301 polymorphism and prolonged oxygen requirement in preterm infants. Although the adjusted analysis did not confirm the statistical significance, this SNP may serve as a candidate genetic marker for respiratory morbidity. Further studies are required to validate these findings.