{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T05:54:48Z","timestamp":1773381288811,"version":"3.50.1"},"reference-count":63,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2024,2,29]],"date-time":"2024-02-29T00:00:00Z","timestamp":1709164800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"George Emil Palade University of Medicine, Pharmacy, Science and Technology of Targu Mures","award":["10127\/20\/17.12.2020"],"award-info":[{"award-number":["10127\/20\/17.12.2020"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Background and Objectives: 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 ABCA3 gene to assess the ABCA3 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. Materials and Methods: 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. Results: There was no observed haplotype association with SNPs rs13332514 (c.1059G&gt;A) and rs170447 (c.1741+33T&gt;C) among newborns, both with and without RDS (p &gt; 0.05). The minor C allele frequency of the ABCA3 rs323043 (c.1755G&gt;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 ABCA3 and SFTPC that were investigated in our patients. Conclusions: The presence of the variant C allele in the rs323043 (c.1755G&gt;C) SNP may be a risk factor for RDS in premature newborns.<\/jats:p>","DOI":"10.3390\/medicina60030419","type":"journal-article","created":{"date-parts":[[2024,2,29]],"date-time":"2024-02-29T05:59:19Z","timestamp":1709186359000},"page":"419","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Evaluation of the Copy Number Variants and Single-Nucleotide Polymorphisms of ABCA3 in Newborns with Respiratory Distress Syndrome\u2014A Pilot Study"],"prefix":"10.3390","volume":"60","author":[{"given":"M\u0103d\u0103lina","family":"Anciuc-Crauciuc","sequence":"first","affiliation":[{"name":"Genetics Department, George Emil Palade University of Medicine, Pharmacy, Science, and Technology, 540142 T\u00e2rgu Mure\u0219, Romania"},{"name":"Neonatology Department, George Emil Palade University of Medicine, Pharmacy, Science, and Technology, 540142 T\u00e2rgu Mure\u0219, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela Camelia","family":"Cucerea","sequence":"additional","affiliation":[{"name":"Neonatology Department, George Emil Palade University of Medicine, Pharmacy, Science, and Technology, 540142 T\u00e2rgu Mure\u0219, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George-Andrei","family":"Crauciuc","sequence":"additional","affiliation":[{"name":"Genetics Laboratory, Center for Advanced Medical and Pharmaceutical Research, George Emil Palade, University of Medicine, Pharmacy, Science, and Technology of T\u00e2rgu Mure\u0219, Gheorghe Marinescu 38, 540139 T\u00e2rgu Mure\u0219, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4297-9988","authenticated-orcid":false,"given":"Florin","family":"Tripon","sequence":"additional","affiliation":[{"name":"Genetics Department, George Emil Palade University of Medicine, Pharmacy, Science, and Technology, 540142 T\u00e2rgu Mure\u0219, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3235-524X","authenticated-orcid":false,"given":"Claudia Violeta","family":"B\u0103nescu","sequence":"additional","affiliation":[{"name":"Genetics Department, George Emil Palade University of Medicine, Pharmacy, Science, and Technology, 540142 T\u00e2rgu Mure\u0219, Romania"},{"name":"Genetics Laboratory, Center for Advanced Medical and Pharmaceutical Research, George Emil Palade, University of Medicine, Pharmacy, Science, and Technology of T\u00e2rgu Mure\u0219, Gheorghe Marinescu 38, 540139 T\u00e2rgu Mure\u0219, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,2,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1038\/nature02168","article-title":"The International HapMap Project","volume":"426","author":"Gibbs","year":"2003","journal-title":"Nature"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.jpeds.2016.01.031","article-title":"Genetic Factors Contribute to Risk for Neonatal Respiratory Distress Syndrome among Moderately Preterm, Late Preterm, and Term Infants","volume":"172","author":"Shen","year":"2016","journal-title":"J. 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