Increased Airway Expression of FAM13A Protein in Extremely Low Birth Weight Infants with Bronchopulmonary dysplasia

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Bronchopulmonary dysplasia (BPD) is a common lung disease whose prevalence continues to rise with the increasing survival of ELBWs. Its pathogenesis is multifactorial, with a strong genetic foundation. Genetic variants of FAM13A are associated with multiple human lung pathological conditions including COPD, CF, IPF and lung CA. In our previous study, FAM13A SNP (rs2609255) was found to be associated with BPD in ELBWs. While FAM13A's function is still unknown, 3 possible mechanisms have been proposed: (1) acting asa signal transduction gene, as its significant single nucleotide polymorphisms (SNPs) lie within an intronic region downstream of a Rho GTPase-activating protein domain, which is important for regulation of cell proliferation and survival; (2)activating Wnt signaling pathway, which has a role in airway and alveolar epithelial development as well as repair; and (3) regulating carnitine palmitoyl transferase-fatty acid oxidation, which plays a role in regulating reactive oxygen species production, contributing to lung epithelial cell death. FAM13A protein level expression is increased in COPD patients. 


To determine if airway expression of FAM13A protein is higher in ELBW infants with BPD compared to NonBPD.


DNA from buccal swabs of ELBWs were collected, isolated, and analyzed with RT-PCR using specific TaqMan probes for rs2013701, rs2609264, rs2869967, rs7671167, rs2609261, rs6837671, rs6830970, rs2609260, rs1458551, rs7682431, rs1903003, rs17014601& rs2609255 following parental consent. BPD was defined as Odependence at 36 weeks postmenstrual age. Tracheal aspirates were collected from intubated infants within first 7 days of life. FAM13A airway protein concentrations were measured with ELISA. Statistical analyses were performed using chi-square, t-test, and z-test, with significant p < 0.05.


In our previous study, BPD infants were born earlier (p<0.001) and at lower birth weight (p<0.001). For rs2609255, there is a significant difference (p=0.04) in genotype distributions between BPD & NonBPD, although this difference was not independent from prematurity following multiple logistic regression analysis. Infants with BPD had higher airway concentrations of FAM13A [median (IQR) 138.5 (0-499) pg/ml] than those with NonBPD [0 (0-0) pg/ml; (p=0.013)].


FAM13A rs2609255 is associated with the development of BPD in ELBW infants. Airway expression of FAM13A in the first week of life was increased in ELBW infants who progressed to BPD. We speculate that this early increased FAM13A protein expression contributes to impaired alveolar epithelial development and subsequent BPD in ELBW infants.

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The Regional Neonatal ICU Maria Fareri Children’s Hospital at Westchester Medical Center-NYMC Valhalla, NY, US
Division of Newborn Medicine- Westchester medical center, Valhalla, NY, USA
The Regional Neonatal ICU, Maria Fareri Children’s Hospital at Westchester Medical Center, NYMC, Valhalla, NY, US

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