The FADS insertion-deletion polymorphism drives the arachidonic acid/dihomo-gamma-linolenic acid ratio in preterm infants and may contribute to patency of ductus arteriosus - a pilot study.

Λεπτομέρειες βιβλιογραφικής εγγραφής
Τίτλος:	The FADS insertion-deletion polymorphism drives the arachidonic acid/dihomo-gamma-linolenic acid ratio in preterm infants and may contribute to patency of ductus arteriosus - a pilot study.
Συγγραφείς:	Herrman K; Pediatrix Medical Group, 1301 Concord Terrace, Sunrise, FL, 33323, USA; Dell Medical School, Department of Pediatrics, The University of Texas at Austin, 1501 Red River St, Austin, TX, 78712, USA. Electronic address: kristy.herrman@pediatrix.com., Reid D; Pediatrix Medical Group, 1301 Concord Terrace, Sunrise, FL, 33323, USA; Dell Medical School, Department of Pediatrics, The University of Texas at Austin, 1501 Red River St, Austin, TX, 78712, USA. Electronic address: davika.reid@utexas.edu., Li YN; Dell Pediatric Research Institute, Dell Medical School and Department of Nutritional Sciences, The University of Texas at Austin, 1400 Barbara Jordan Blvd, Austin, TX, 78723, USA. Electronic address: kevinli0630@utexas.edu., Park HG; Dell Pediatric Research Institute, Dell Medical School and Department of Nutritional Sciences, The University of Texas at Austin, 1400 Barbara Jordan Blvd, Austin, TX, 78723, USA. Electronic address: hi.park@austin.utexas.edu., Mukherjee P; Dell Medical School, Department of Pediatrics, The University of Texas at Austin, 1501 Red River St, Austin, TX, 78712, USA. Electronic address: priya.mukherjee@yale.edu., Brand K; Dell Medical School, Department of Pediatrics, The University of Texas at Austin, 1501 Red River St, Austin, TX, 78712, USA. Electronic address: brand.kathryn@gmail.com., Gonzales J; Ascension Seton Medical Center Austin, 1201 W. 38th St, Austin, TX, 78705, USA. Electronic address: Jenngonzo1529@gmail.com., Kothapalli K; Dell Pediatric Research Institute, Dell Medical School and Department of Nutritional Sciences, The University of Texas at Austin, 1400 Barbara Jordan Blvd, Austin, TX, 78723, USA. Electronic address: ksdkumar@gmail.com., Brenna JT; Dell Pediatric Research Institute, Dell Medical School and Department of Nutritional Sciences, The University of Texas at Austin, 1400 Barbara Jordan Blvd, Austin, TX, 78723, USA. Electronic address: tbrenna@utexas.edu.
Πηγή:	Prostaglandins, leukotrienes, and essential fatty acids [Prostaglandins Leukot Essent Fatty Acids] 2026 Oct; Vol. 210, pp. 102767. Date of Electronic Publication: 2026 Sep 01.
Τύπος έκδοσης:	Journal Article
Γλώσσα:	English
Στοιχεία περιοδικού:	Publisher: Churchill Livingstone Country of Publication: Scotland NLM ID: 8802730 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2823 (Electronic) Linking ISSN: 09523278 NLM ISO Abbreviation: Prostaglandins Leukot Essent Fatty Acids Subsets: MEDLINE
Imprint Name(s):	Original Publication: Edinburgh ; New York : Churchill Livingstone, c1988-
Ιατρικοί όροι (MeSH):	Ductus Arteriosus, Patent/genetics , Ductus Arteriosus, Patent/blood , Fatty Acid Desaturases/genetics , Arachidonic Acid/blood , 8,11,14-Eicosatrienoic Acid/blood , Polymorphism, Genetic , INDEL Mutation* , Ductus Arteriosus*, Infant, Premature/blood ; Humans ; Infant, Newborn ; Pilot Projects ; Female ; Delta-5 Fatty Acid Desaturase ; Male ; Prospective Studies ; Genotype ; Gestational Age
Περίληψη:	Background: The FADS Indel insertion-deletion polymorphism (rs66698963) modulates fatty acid desaturase 1 (FADS1), which converts di-homo-γ-linolenic acid (DGLA) to arachidonic acid (ARA). Adults homozygous for the I allele (I/I) have up to 84% higher ARA/DGLA ratios than D homozygotes (D/D), with heterozygotes intermediate. Whether this relationship extends to preterm neonates is unknown. ARA is the precursor to prostaglandin E2 (PGE2), a key mediator of ductal patency. Elevated ARA synthesis may contribute to patent ductus arteriosus (PDA). Hypothesis: I/I infants have greater ARA/DGLA ratios, higher PDA incidence, and more catheter-based closures than D/D genotype. Methods: We prospectively enrolled 65 premature infants (mean gestational age 28 weeks). Blood fatty acids were analyzed by gas chromatography and genotype by PCR. Genotype associations with outcomes were assessed using Fisher's exact test, Cochran-Armitage trend test, and logistic regression. Fatty acid comparisons used Welch's t-test and one-way ANOVA. Results: Genotypes were D/D in 26 infants (40%), I/D in 31 (48%), and I/I in 8 (12%). The ARA/DGLA ratio was 33% higher in I/I than D/D infants (ANOVA p=0.029; Welch's t-test p=0.04) and remained significant after gestational-age adjustment (p=0.025). PDA rates increased nonsignificantly from D/D (42%) to I/D (45%) to I/I (50%) (Cochran-Armitage p=0.70; OR=1.15, p=0.70). Among 29 with echo-confirmed PDA, spontaneous closure rates were 60%, 31%, and 50%; six required Piccolo occlusion. Gestational age did not differ by genotype (p=0.68). Conclusions: The FADS Indel significantly modulates ARA/DGLA in preterm infants, consistent with adults. PDA associations were nonsignificant, but trends warrant study in larger cohorts. (Copyright © 2026 Elsevier Ltd. All rights reserved.)
Competing Interests:	Declaration of interests The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
Contributed Indexing:	Keywords: Arachidonic acid; Fatty acid desaturase; Insertion-deletion polymorphism; Patent ductus arteriosus; Polyunsaturated fatty acids; Preterm birth
Substance Nomenclature:	EC 1.14.19.- (Fatty Acid Desaturases) 27YG812J1I (Arachidonic Acid) 0 (Delta-5 Fatty Acid Desaturase) FC398RK06S (8,11,14-Eicosatrienoic Acid) EC 1.14.19.3 (FADS1 protein, human)
Entry Date(s):	Date Created: 20260904 Date Completed: 20260910 Latest Revision: 20260910
Update Code:	20260911
DOI:	10.1016/j.plefa.2026.102767
PMID:	42697009
Βάση Δεδομένων:	MEDLINE

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Περιγραφή
ISSN:	1532-2823
DOI:	10.1016/j.plefa.2026.102767