Related Experiment Video

Updated: Jul 13, 2026

Mapping Infant Immunity with Minimal Input: Integrative Single-Cell and Multiomic Profiling
10:29

Mapping Infant Immunity with Minimal Input: Integrative Single-Cell and Multiomic Profiling

Published on: April 3, 2026

Association between 49 infant gene polymorphisms and preterm delivery

Brian H Chen1, Suzan L Carmichael, Gary M Shaw

  • 1California Birth Defects Monitoring Program, March of Dimes Foundation, Berkeley, California 94710, USA.

American Journal of Medical Genetics. Part A
|August 7, 2007
PubMed

Insights

Preterm delivery is rising. Genetic factors, particularly in the SERPINE1 gene related to blood clotting, may influence preterm birth risk, suggesting a link between coagulation and premature birth.

Area of Science:

  • Genetics
  • Obstetrics
  • Molecular Biology

Background:

  • Preterm delivery rates are increasing in the U.S.
  • Genetic factors are suspected contributors to preterm birth.
  • Previous research indicates potential genetic influences on preterm delivery.

Purpose of the Study:

  • To investigate the association between genetic polymorphisms and preterm delivery.
  • To compare the frequencies of 49 genetic polymorphisms in preterm and term infants.
  • To identify specific genetic variants that may increase the risk of preterm birth.

Main Methods:

  • A case-control study design was employed.
  • Genetic polymorphisms in pathways including xenobiotic metabolism, blood pressure, coagulation, inflammation, cell-cell interaction, and folate-homocysteine metabolism were analyzed.
  • Frequencies of 49 polymorphisms were compared between 62 preterm infants and 553 term infants.

Main Results:

  • Univariate analysis identified a statistically significant association for the SERPINE1 11053G > T polymorphism.
  • Variant genotypes of SERPINE1 11053G > T showed a protective effect (OR = 0.4, 95% CI = 0.2-0.8) compared to wildtype genotypes.
  • No other significant associations were found among the individual polymorphisms examined.

Conclusions:

  • The coagulation/thrombophilic pathway, specifically involving the SERPINE1 gene, may play a role in the development of preterm delivery.
  • Further research is warranted to elucidate the mechanisms by which SERPINE1 influences preterm birth.
  • Genetic variations can impact obstetric outcomes, highlighting the need for personalized risk assessment.

Related Concept Videos

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...