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Evaluation of the Copy Number Variants and Single-Nucleotide Polymorphisms of <i>ABCA3</i> in Newborns with Respiratory Distress Syndrome—A Pilot Study
oleh: Mădălina Anciuc-Crauciuc, Manuela Camelia Cucerea, George-Andrei Crauciuc, Florin Tripon, Claudia Violeta Bănescu
| Format: | Article |
|---|---|
| Diterbitkan: | MDPI AG 2024-02-01 |
Deskripsi
<i>Background and Objectives</i>: Respiratory distress syndrome (RDS) in preterm infants commonly occurs due to the immaturity-related deficiency of pulmonary surfactant. Beyond prematurity, various environmental and genetic factors can influence the onset and progression of RDS. This study aimed to analyze three single-nucleotide polymorphisms (SNPs) of the <i>ABCA3</i> gene to assess the <i>ABCA3</i> gene as a candidate gene for susceptibility to RDS and overall survival in newborns and to evaluate the utility of MLPA in RDS neonatal patients. <i>Materials and Methods</i>: Three SNPs were chosen and genotyped in a cohort of 304 newborns. Data analysis and statistical tests were employed to examine allele frequencies, haplotypes, and measures of pairwise linkage disequilibrium. <i>Results</i>: There was no observed haplotype association with SNPs rs13332514 (c.1059G>A) and rs170447 (c.1741+33T>C) among newborns, both with and without RDS (<i>p</i> > 0.05). The minor C allele frequency of the <i>ABCA3</i> rs323043 (c.1755G>C) SNP showed a significant increase in preterm infants with RDS. MLPA results indicated that the predominant findings were normal, revealing no CNVs in the genes <i>ABCA3</i> and <i>SFTPC</i> that were investigated in our patients. <i>Conclusions</i>: The presence of the variant C allele in the rs323043 (c.1755G>C) SNP may be a risk factor for RDS in premature newborns.