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Updated: Jan 10, 2026
Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
The Impact of OXTR, COMT, and GRIN2B Polymorphisms on Brain Development in Preterm Infants
Eon Yak Kim1, Hyuna Kim1, Yong Hun Jang1
1Department of Pediatrics, College of Medicine, Hanyang University, Seoul 04763, Republic of Korea.
Insights
Genetic variations in preterm infants impact neurodevelopment and brain networks. Specific OXTR gene polymorphisms are linked to lower language, adaptive, and social-emotional scores, emphasizing early genetic screening.
Area of Science:
- Neuroscience
- Genetics
- Developmental Pediatrics
Background:
- Preterm infants face developmental delays due to immature brains and environmental stress.
- Genetic factors, including polymorphisms in *OXTR*, *COMT*, and *GRIN2B*, may influence neurodevelopmental vulnerabilities.
- Understanding these genetic predispositions is crucial for early intervention strategies.
Purpose of the Study:
- To investigate the association between specific gene polymorphisms and neurodevelopmental outcomes in preterm infants.
- To explore the relationship between genetic variations and brain network organization in this population.
- To identify potential genetic markers for predicting developmental trajectories in preterm infants.
Main Methods:
- Recruited 91 preterm infants (<35 weeks gestation) for the study.
- Conducted brain MRIs at term-equivalent age and analyzed DNA for single nucleotide polymorphisms (SNPs).
- Performed neurodevelopmental assessments at 18 months corrected age using K-DST and BSID-III.
Main Results:
- Carriers of minor alleles in *OXTR* rs2268490 showed reduced language and adaptive behavior.
- *COMT* rs4818 and rs740603 polymorphisms were linked to lower social-emotional scores on BSID-III.
- *OXTR* rs2268490 was associated with altered brain network metrics, including decreased small-worldness and increased global/local efficiency.
Conclusions:
- Gene polymorphisms in *OXTR* are associated with brain network organization and neurodevelopmental outcomes in preterm infants.
- These genetic variants may mediate the impact of environmental factors on early brain development.
- Genetic screening and early intervention are important for preterm infants with specific genetic profiles.
Abstract:
Background/Objectives: Preterm infants are at risk for developmental delays due to immature brain development and increased sensitivity to environmental stress. Genetic factors, such as polymorphisms in *OXTR* rs2268490, *COMT* rs4818, and *GRIN2B*, may influence these vulnerabilities and affect neurodevelopment. Methods: We recruited 91 preterm infants (<35 weeks gestation) admitted to the NICU at Hanyang University Seoul Hospital between January 2020 and December 2022. Brain MRIs were conducted at term-equivalent age, and DNA samples were analyzed for SNPs. Neurodevelopmental assessments were performed at 18 months corrected age using the Korean Developmental Screening Test (K-DST) and Bayley Scales of Infant Development, Third Edition (BSID-III). Results: Carriers of the minor alleles in *OXTR* rs2268490 showed significantly lower language and adaptive behavior, and *COMT* rs4818, rs740603 showed significantly lower social-emotional scores on BSID-III. *OXTR* rs2268490 was also associated with altered brain network metrics, including decreased small-worldness (p = 0.012) and increased global (p = 0.038) and local efficiency (p = 0.042). Conclusions: Polymorphisms in the *OXTR* genes are associated with differences in brain network organization and neurodevelopmental outcomes in preterm infants. These variants may influence how environmental factors affect early brain development, highlighting the importance of genetic screening and early intervention.
