Related Experiment Videos

Ethnic differences in interleukin 6 (IL-6) and IL6 receptor genes in spontaneous preterm birth and effects on

D R Velez1, R Menon, P Thorsen

  • 1Division of Cardiovascular Medicine, Department of Medicine and Center for Human Genetics Research, Vanderbilt University, Nashville, TN 37232, USA.

Annals of Human Genetics
|March 10, 2007
PubMed

Insights

Genetic differences influence preterm birth (PTB) risk between European-Americans (EA) and African-Americans (AA). Variations in interleukin 6 (IL6) and IL6 receptor (IL6R) genes impact IL-6 levels and PTB susceptibility, particularly with infection.

Area of Science:

  • Genetics
  • Immunology
  • Perinatal Medicine

Background:

  • Preterm birth (PTB) disproportionately affects African-Americans (AA) compared to European-Americans (EA).
  • Genetic variations between EA and AA populations may contribute to this health disparity.
  • Interleukin 6 (IL6) and its receptor (IL6R) are implicated in inflammatory processes relevant to PTB.

Purpose of the Study:

  • To investigate genetic variations in IL6 and IL6R genes in relation to PTB risk in EA and AA populations.
  • To examine the association between IL6 gene polymorphisms and IL-6 levels in amniotic fluid.
  • To explore potential gene-environment interactions, specifically gene by infection, in PTB.

Main Methods:

  • Analyzed genetic variations (SNPs) in IL6 and IL6R genes in mothers and fetuses from EA and AA birth cohorts.
  • Conducted case-control association studies for PTB.
  • Measured IL-6 concentrations in amniotic fluid samples from a subset of pregnancies.

Main Results:

  • A single nucleotide polymorphism (SNP) in IL6R was significantly associated with PTB in European-Americans.
  • Significant frequency differences in studied SNPs were observed between AA and EA populations.
  • Higher IL-6 concentrations in amniotic fluid were linked to a specific IL6 SNP (-661) in EA preterm births, especially in cases of microbial invasion of the amniotic cavity.

Conclusions:

  • Genetic variations in IL6 and IL6R contribute to differential susceptibility to PTB between EA and AA women.
  • EA and AA women exhibit distinct responses to infection regarding IL-6 expression, influenced by IL6 genotype.
  • Findings support the role of differential genetic control in regulating IL-6 levels in amniotic fluid between ethnic groups.

Related Concept Videos

Development of Immunocompetence01:22

Development of Immunocompetence

The initiation of cell-mediated immunity can be observed as early as the third month of fetal growth, with active antibody-mediated immunity following approximately one month later.
The initial cells that migrate from the fetal thymus settle within the skin and epithelial tissues lining the mouth, digestive tract, and in females, the uterus and vagina. These cells, including skin-based dendritic cells, serve as antigen-presenting cells, playing a key role in T cell activation.
Subsequent T...
Transcytosis of IgG01:15

Transcytosis of IgG

Transcytosis is the process in which molecules are internalized by endocytosis, transported across the cell, and released through exocytosis from the opposite end of the cell. Molecules such as insulin, immunoglobulins, and certain nutrients are transferred through the recycling endosomes by recycling and transcytosis.
IgG molecules from a mother undergo transcytosis starting around 13 weeks of gestation. The amount of IgG transferred and entering the fetal blood circulation increases with...