Related Experiment Video
Updated: Aug 2, 2026

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
Cytochrome P450 gene polymorphisms and risk of low birth weight
Dafang Chen1, Yonghua Hu, Fan Yang
1Department of Medical Genetics, Peking University Health Science Center, Beijing, China. dafangchen@bjmu.edu.cn
Insights
Genetic variations in cytochrome P450 genes (CYP1A1) are linked to low birth weight. Both infant and maternal CYP1A1MspI C/C6235 genotypes increased the risk of low birth weight in a Chinese population.
Area of Science:
- Pharmacogenetics
- Human Genetics
- Birth Outcomes Research
Background:
- Cytochrome P450 enzymes play crucial roles in metabolizing environmental and endogenous compounds.
- Genetic polymorphisms in CYP450 genes, including CYP1A1 and CYP2E1, can influence individual susceptibility to various health conditions.
- Low birth weight is a significant predictor of infant mortality and morbidity.
Purpose of the Study:
- To investigate the association between specific polymorphisms in cytochrome P450 genes (CYP1A1MspI, CYP1A1HincII, and CYP2E1) and the risk of low birth weight.
- To examine the independent and joint effects of infant and maternal genotypes on low birth weight.
- To explore the role of genetic variability in cytochrome P450 in the etiology of low birth weight.
Main Methods:
- A case-control study was conducted using infant-parent triads (248 normal birth weight, 248 low birth weight) in Anqing, China.
- Genotyping for CYP1A1MspI, CYP1A1HincII, and CYP2E1 polymorphisms was performed using standard molecular techniques.
- Log-linear modeling was employed to analyze the association between gene polymorphisms and the risk of low birth weight.
Main Results:
- Infant CYP1A1MspI C/C6235 genotype was associated with a 1.92-fold increased risk of low birth weight compared to the CYP1A1 MspI T/T6235 genotype (p=0.034).
- Maternal CYP1A1MspI C/C6235 genotype was associated with a 1.68-fold increased risk of low birth weight compared to the maternal CYP1A1MspI T/T6235 genotype (p=0.029).
- No significant joint effect was observed between infant and maternal CYP1A1MspI genotypes.
Conclusions:
- Both infant and maternal CYP1A1MspI C/C6235 genotypes are independently associated with an increased risk of low birth weight.
- Genetic variability in cytochrome P450, specifically CYP1A1, may contribute to the etiology of low birth weight.
- Further research is warranted to elucidate the mechanisms underlying this association.
Abstract:
This study investigated the association between polymorphisms in cytochrome P450 genes (CYP1A1MspI, CYP1A1HincII, and CYP2E1) and low birth weight. Between July 1999 and June 2002, we conducted a study using infant-parents triads in Anqing, China. The analyses included the families of 248 normal birth weight, full-term infants, and 248 low-birth-weight infants. Genotyping was performed for the polymorphisms of cytochrome P450 genes using standard techniques. We used log-linear modeling to analyze the association of CYP1A1 and CYP2E1 gene polymorphisms with the risk of low birth weight. In the analysis of children's genotypes, the relative risk was 1.92 (95% confidence interval: 1.05, 3.52, p=0.034) for CYP1A1MspI C/C6235 compared with CYP1A1 MspI T/T6235. In the analysis of mothers' genotypes, an association was also seen for maternal CYP1A1MspI C/C6235 compared with CYP1A1MspI T/T6235 (relative risk: 1.68, 95% confidence interval: 1.06, 2.68, p=0.029). We did not observe a joint effect between mother's and children's genotypes. Analysis of control triads suggests Mendelian transmissions of the variant alleles of CYP1A1MspI, CYP1A1HincII, and CYP2E1. In conclusion, both infant and maternal CYP1A1MspI C/C6235 genotypes were associated with increased risk of low birth weight in our study population. This suggests a possible role for human cytochrome P450 variability in the etiology of low birth weight.
More Related Videos
06:21Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
Published on: May 10, 2024
03:19Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes
Published on: June 28, 2024
Related Concept Videos
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Drug Metabolism: Overview
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase