Related Experiment Video

Updated: Jun 22, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Genetic variants in immunoregulatory genes and risk for childhood lymphomas

Elisabeth Andrie1, Athanasios Michos, Vassiliki Kalampoki

  • 1Department of Hygiene, Epidemiology and Medical Statistics, Athens University Medical School, 75 Mikras Asias Str., Goudi, Athens, Greece.

European Journal of Haematology
|June 11, 2009
PubMed

Insights

Genetic variations in CD14 may increase childhood Hodgkin's lymphoma risk. This study analyzed SNPs in immune genes for 37 HL and 48 NHL patients, finding a significant association with the CD14 -159 C>T polymorphism for HL risk.

Area of Science:

  • Immunogenetics
  • Pediatric Oncology
  • Molecular Epidemiology

Background:

  • Childhood lymphomas, including Hodgkin's lymphoma (HL) and non-Hodgkin's lymphoma (NHL), represent a significant health concern.
  • The role of genetic predisposition, particularly involving immune system genes, in the etiology of childhood lymphomas is not fully understood.

Purpose of the Study:

  • To investigate the association between single nucleotide polymorphisms (SNPs) in key cytokine and innate immunity genes and the risk of childhood lymphomas.
  • To identify specific genetic variations that may predispose children to developing HL or NHL.

Main Methods:

  • Genotyping of 10 SNPs from nine immunoregulatory genes (IL4, IL4R, IL6, IL10, IL12, IL18, TNFalpha, IFNgamma, CD14) in 37 children with HL and 48 with NHL.
  • Comparison of genotype frequencies between pediatric lymphoma cases and 85 age- and gender-matched controls with mild medical conditions.

Main Results:

  • The CD14 -159 C>T polymorphism showed a statistically significant association with an increased risk for HL (CC genotype: OR=5.36, P=0.02; CT genotype: OR=3.76, P=0.05).
  • An indicative, but not statistically significant, association was observed between the IL18-137 G>C polymorphism (CC genotype) and NHL risk (OR=3.78, P=0.08).

Conclusions:

  • Genetic variations in the CD14 gene, specifically at the -159 locus, may be associated with an increased risk of childhood Hodgkin's lymphoma.
  • These preliminary findings warrant further investigation in larger, multi-center studies to confirm the association and explore the underlying biological mechanisms involving cytokine levels.

Related Concept Videos

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...
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...
Cancer Prevention02:59

Cancer Prevention

Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Diversity of Antigen Receptors01:28

Diversity of Antigen Receptors

Antigen receptors are essential components of the immune system crucial in defending the body against foreign invaders. These receptors are present on the surface of B and T cells, enabling them to recognize antigens and mount an appropriate immune response.
Before encountering any antigen, lymphocytes express these receptors. On B cells, the antigen receptor is a membrane-bound antibody molecule called BCR; on T cells, it is a T cell receptor or TCR. B and T cell receptors are composed of two...
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...