Are Tensin 1 Genetic Variants Associated With Bpd in Elbw Infants?

Author Type(s)

Faculty

Document Type

Abstract

Publication Date

2022

DOI

10.1136/jim-2022-ERM.209

Journal Title

Journal of Investigative Medicine

Department

Pediatrics

Abstract

Purpose of Study Tensin 1 (TNS1) is a scaffold protein that interacts with many pulmonary signaling pathways modulating myofibroblast differentiation and extracellular matrix remodeling. The expression of the TNS1 gene is increased in COPD airways, resulting in enhanced expression of contractile proteins and their localization to stress fibers in airway smooth muscle cells (ASMCs). GWAS studies have identified variants of the TNS1 gene associated with COPD. Since alterations in the airways are also seen in BPD, we sought to investigate TNS1 gene variants in ELBW infants. Therefore, the objective of this study is to determine if variants of the TNS1 gene are associated with susceptibility to BPD in ELBW infants. Methods Used This is an ongoing cohort study enrolling extremely low birth weight (ELBW) infants without major congenital or chromosomal anomalies. DNA was isolated in infants following IRB-approved parental consent from buccal swabs and underwent allelic discrimination with specific Taqman probes using RT-PCR for: rs918949, rs6729330, rs1427669, and rs2161969. BPD was defined as the need for supplemental oxygen at 36 weeks PMA. Statistical analyses included chi-square, z-test, t- test, Fisher exact, and Mann- Whitney U test, and multiple logistics regression analysis, with p≤ 0.05 significant. Summary of Results As expected, ELBW infants with BPD had earlier gestational ages and lower birth weights than those without BPD. The infants with BPD also had an increased rate of PDA requiring treatment; while other demographic characteristics were comparable (table 1). No significantly different genotype frequencies were found for the genetic variants tested between the BPD and Non-BPD groups of ELBW infants (table 2). This is a pilot study, with sample size limitations. Conclusions The TNS1 variants investigated did not show significantly different genotype frequencies for the ELBW infants with BPD compared to those without BPD. We speculate that the small sample size of this pilot study limited the results. (Table Presented).

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