Polymorphisms in NRAMP1 and MBL2 genes and their relations with tuberculosis in Turkish children

Hüseyin Avni Solğun1, Deniz Taştemir, Necmi Aksaray

  • 1Department of Pediatrics, Faculty of Medicine, Cukurova University, Adana, Turkey. hsynavn@gmail.com

Insights

Genetic analysis of NRAMP1 and MBL genes in children with tuberculosis revealed no significant association. These findings suggest these specific gene polymorphisms do not influence pediatric tuberculosis susceptibility.

Area of Science:

  • Genetics
  • Pediatrics
  • Infectious Diseases

Background:

  • Genetic factors play a role in tuberculosis susceptibility.
  • The NRAMP1 and MBL genes are potential candidates for influencing tuberculosis risk.

Purpose of the Study:

  • To investigate the association between NRAMP1 and MBL gene polymorphisms and genetic susceptibility to pediatric tuberculosis.
  • To compare gene frequencies in children with tuberculosis against a healthy control group.

Main Methods:

  • Analysis of NRAMP1 (D543N, 3'-UTR, INT4) and MBL (codon 54, 57) gene polymorphisms.
  • Study included 50 pediatric tuberculosis cases and 50 healthy controls aged 0-18 years.
  • Microsatellite analysis was performed on collected samples.

Main Results:

  • No significant association was found between NRAMP1 gene polymorphisms (INT4, G543A, 3-UTR) and tuberculosis in children (p>0.005).
  • No significant differences in MBL gene polymorphisms (codon 54, 57) were observed between tuberculosis patients and controls (p>0.05).

Conclusions:

  • NRAMP1 and MBL gene polymorphisms studied do not appear to be associated with susceptibility to pediatric tuberculosis.
  • Further research may be needed to explore other genetic factors contributing to tuberculosis heterogeneity.

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...
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase01:27

Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase

Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...
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...
Malaria01:29

Malaria

Malaria pathogenesis in humans reflects a delicate interplay between parasite biology and host response. Clinical illness reflects a host’s immune response to the parasite’s asexual replication cycle, which is often asymptomatic in individuals with partial immunity. From the parasite's perspective, transmission between mosquito and human with minimal host pathology is evolutionarily advantageous. Among the six Plasmodium species infecting humans, P. falciparum and P. vivax dominate in global...
Modern Molecular Taxonomy01:29

Modern Molecular Taxonomy

Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...