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Association of birth outcomes with maternal and infant FADS1 rs174547 genotypes in Japanese participants

Reiko Nita1, Terue Kawabata2, Yasuo Kagawa2

  • 1Faculty of Nutrition, Kagawa Nutrition University, 3-9-21 Chiyoda, Sakado, Saitama 350-0288, Japan; Department of Human Nutrition, Faculty of Human Nutrition, Seitoku University, 550 Iwase, Matsudo, Chiba 271-8555, Japan.

Prostaglandins, Leukotrienes, and Essential Fatty Acids
|May 24, 2025
PubMed

Insights

Maternal and infant FADS1 gene variants impact fetal head size. For mothers and infants with the CC genotype, higher maternal fish intake during pregnancy may support fetal growth and development.

Area of Science:

  • Genetics
  • Nutritional Science
  • Pediatrics

Background:

  • N-3 long-chain polyunsaturated fatty acids (n-3LCPUFAs) are vital for fetal development, particularly brain function.
  • The FADS1 gene plays a role in fatty acid metabolism, influencing n-3LCPUFA levels.

Purpose of the Study:

  • To investigate the association between FADS1 rs174547 genotypes and birth outcomes in Japanese mother-infant pairs.
  • To explore the interaction between FADS1 genotype, docosahexaenoic acid (DHA), and infant head circumference.

Main Methods:

  • Study included 373 Japanese infant-mother pairs from the Japan Environment and Children's Study.
  • Multiple regression analysis was used to examine genotype-phenotype relationships.
  • FADS1 genotype-stratified analyses explored interactions with DHA and maternal fish intake.

Main Results:

  • Infants with the FADS1 rs174547 CC genotype had significantly smaller head circumferences at birth compared to TT genotype infants.
  • Infant genotype interacted with cord blood DHA levels to influence head circumference.
  • Maternal and infant CC genotypes showed a positive association between head circumference and maternal DHA/ALA ratio or fish intake.

Conclusions:

  • Maternal and infant FADS1 genotypes can influence fetal growth, specifically head circumference.
  • Lower endogenous long-chain polyunsaturated fatty acid synthesis efficiency was noted in homozygous minor allele (C) pairs.
  • Maternal fish consumption during pregnancy may be crucial for fetal development in mothers and infants with the CC genotype.

Keywords:
Docosahexaenoic acidFADS1Fetal growthMaternal fish intakeN-3LCPUFA

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