Genome-wide association studies in preterm birth: implications for the practicing obstetrician-gynaecologist

Siobhan M Dolan1, Inge Christiaens

  • 1Department of Obstetrics & Gynecology and Women's Health, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, NY 10461, USA. siobhanmdolan@yahoo.com

Insights

Genetic predisposition plays a key role in preterm birth. A large genome-wide association study (GWAS) will identify genetic variants associated with early preterm birth, aiding future prevention strategies.

Area of Science:

  • Genetics
  • Obstetrics
  • Public Health

Background:

  • Preterm birth is a leading cause of infant mortality and morbidity globally.
  • Effective prevention strategies for preterm birth are limited, with largely unexplained etiology.
  • Genetic predisposition is increasingly recognized as a significant factor in preterm birth.

Discussion:

  • The international Preterm Birth Genome Project (PGP) is set to release a large genome-wide association study (GWAS) on early preterm birth.
  • GWAS are crucial for identifying common genetic variants linked to complex diseases like preterm birth.
  • While direct clinical application of GWAS findings may be distant, they serve as vital discovery tools.

Key Insights:

  • GWAS can uncover genetic variations associated with preterm birth, advancing etiological understanding.
  • The upcoming PGP study promises significant insights into the genetic underpinnings of early preterm birth.
  • Identifying genetic predispositions is a critical step towards developing targeted prevention methods.

Outlook:

  • GWAS results will generate novel hypotheses for further research into preterm birth.
  • Enhanced understanding of preterm birth etiology will inform long-term public health prevention efforts.
  • Continued genetic research is essential for improving outcomes for preterm infants and mothers.

Related Concept Videos

Development of the Oral Microbiota01:28

Development of the Oral Microbiota

The establishment of the oral microbiome begins before birth, challenging the long-held belief that the fetal oral cavity is sterile. The presence of oral microbes such as Streptococcus and Fusobacterium in amniotic fluid suggests that microbial exposure may occur in utero, potentially through translocation from the maternal oral or gastrointestinal tract. This early colonization primes the neonatal immune system and sets the stage for subsequent microbial succession. Maternal health,...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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...