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Background <p>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 (<i>SLCO1B1</i>) gene encodes the organic anion transporting polypeptide 1B1 (OATP1B1), a transporter involved in drug metabolism, whereas methionine synthase reductase (<i>MTRR</i>) plays an essential role in DNA synthesis and methylation. This study investigated the association between pediatric ALL and genetic polymorphisms in the <i>SLCO1B1</i> and <i>MTRR</i> genes in an Egyptian population.</p> Methods <p>Tetra-primer amplification refractory mutation polymerase chain reaction (T-ARMS-PCR) was used to genotype the <i>SLCO1B1</i> (521T &gt; C, rs4149056) and <i>MTRR</i> (1049&#xa0;A &gt; G, rs162036) variants in 100 pediatric ALL patients and 100 healthy controls.</p> Results <p>Significant differences in genotype and allele frequencies were observed between cases and controls for both variants (<i>SLCO1B1</i>: <i>p</i> = 0.001; <i>MTRR</i>: <i>p</i> = 0.001 and <i>p</i> = 0.04, respectively).</p> Conclusions <p>These findings suggest a possible association between <i>SLCO1B1</i> and <i>MTRR</i> polymorphisms and susceptibility to pediatric ALL in the studied Egyptian population.</p>

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SLCO1B1 and MTRR gene variants in pediatric acute lymphoblastic leukemia: a study on Egyptian children

  • 期刊论文

  • 发表日期：

    2026年7月22日

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  • Ali Nabeel Mahdi,
  • Afaf M. Elsaid,
  • Maha Abdelmoneim Mohammed,
  • Mai M. Madkour,
  • A. F. Abdel-Aziz

摘要

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.