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SLCO1B1 and MTRR gene variants in pediatric acute lymphoblastic leukemia: a study on Egyptian children
Ali Nabeel Mahdi1, Afaf M Elsaid2, Maha Abdelmoneim Mohammed3
1Biochemistry Division, Department of Chemistry, Faculty of Science, Mansoura University, Mansoura, 35516, Egypt.
Insights
Genetic variations in SLCO1B1 and MTRR are linked to childhood acute lymphoblastic leukemia (ALL) risk in Egyptian children. These findings highlight potential genetic factors influencing ALL susceptibility.
Area of Science:
- Genetics
- Oncology
- Pharmacogenomics
Background:
- Acute lymphoblastic leukemia (ALL) is a prevalent pediatric cancer affecting white blood cells.
- The SLCO1B1 gene (encoding OATP1B1) influences drug metabolism, while MTRR is crucial for DNA synthesis and methylation.
- Genetic variations may impact susceptibility to ALL.
Purpose of the Study:
- To investigate the association between polymorphisms in SLCO1B1 and MTRR genes and the risk of pediatric ALL.
- To analyze these genetic variants in an Egyptian population.
Main Methods:
- Genotyping of SLCO1B1 (rs4149056) and MTRR (rs162036) variants using tetra-primer amplification refractory mutation polymerase chain reaction (T-ARMS-PCR).
- Study included 100 pediatric ALL patients and 100 healthy controls from Egypt.
Main Results:
- Significant differences in genotype and allele frequencies were found for both SLCO1B1 (p=0.001) and MTRR (p=0.001, p=0.04) between ALL patients and controls.
- These results indicate a potential genetic link.
Conclusions:
- Polymorphisms in SLCO1B1 and MTRR may be associated with susceptibility to pediatric ALL.
- Further research is warranted to confirm these findings in diverse populations.
Background:
Acute lymphoblastic leukemia (ALL) is the most common malignancy in pediatric populations and affects white blood cells. The solute carrier organic anion transporter family member 1B1 (SLCO1B1) gene encodes the organic anion transporting polypeptide 1B1 (OATP1B1), a transporter involved in drug metabolism, whereas methionine synthase reductase (MTRR) plays an essential role in DNA synthesis and methylation. This study investigated the association between pediatric ALL and genetic polymorphisms in the SLCO1B1 and MTRR genes in an Egyptian population.
Methods:
Tetra-primer amplification refractory mutation polymerase chain reaction (T-ARMS-PCR) was used to genotype the SLCO1B1 (521T > C, rs4149056) and MTRR (1049 A > G, rs162036) variants in 100 pediatric ALL patients and 100 healthy controls.
Results:
Significant differences in genotype and allele frequencies were observed between cases and controls for both variants (SLCO1B1: p = 0.001; MTRR: p = 0.001 and p = 0.04, respectively).
Conclusions:
These findings suggest a possible association between SLCO1B1 and MTRR polymorphisms and susceptibility to pediatric ALL in the studied Egyptian population.
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