LCPUFA plasma levels related to FADS polymorphisms in preterm infants

Preterm infants are associated with reduced levels of long-chain polyunsaturated fatty acids (LCPUFAs), particularly arachidonic acid (ARA) and docosahexaenoic acid (DHA), due to interrupted third-trimester transfer. FADS gene variants may further influence endogenous LCPUFA synthesis and exogenous LCPUFA supplementation.

This pilot randomized single-center study included 33 preterm infants assigned to control (n = 12), 120:60 (120 mg/kg ARA + 60 mg/kg DHA; n = 10), or 160:80 (160 mg/kg ARA + 80 mg/kg DHA; n = 11). Supplementation was provided from birth to 36 weeks postmenstrual age. Blood samples were collected at birth and at 36 weeks PMA. Plasma phospholipid fatty acids were quantified by gas chromatography (mol% of total fatty acids). FADS variants (rs174545, rs174546, and rs174602) and their combinations were genotyped from oral mucosa DNA.

In the 160:80 group, rs174602 allele distribution differed from controls, with higher CC homozygosity. In controls, rs174545 CC homozygosity correlated with ARA at baseline (ρ=0.666) and T4 (ρ=0.768). In the 160:80 group, rs174602 CC homozygosity correlated with ARA (ρ=0.661) and DHA (ρ=0.731) at T4. The GTT allelic combination was negatively associated with baseline ARA and DHA and with ARA at T4 in controls.

FADS genetic variability influences baseline LCPUFA status and response to ARA:DHA supplementation in preterm infants. rs174545, rs174546, rs174602, and their allelic combination are associated with differential fatty acid management, supporting the integration of genetic profiling into individualized nutritional strategies.