Genetic Markers of Acute Childhood B-Lineage Lymphoblastic Leukemia in the Kazakh Population


Svyatova G. Berezina G. Bazarbayeva A. Omarova K. Kussainov A.
2024Taylor and Francis Ltd.

Fetal and Pediatric Pathology
2024#43Issue 4300 - 314 pp.

Introduction: To investigate the genetic contribution of 24 GWAS-associated polymorphic gene variants on the development of children’s B-lineage acute lymphoblastic leukemia (B-ALL) in an ethnically homogeneous population of Kazakhs. Methods: A study of 205 children with B-ALL and 204 healthy children was conducted. Genotyping of polymorphic loci was carried out using the TaqMan method. Results: Significant associations (p < 0.05) with the risk of childhood B-ALL were found for twelve variants, including rs6457327 of the HLA gene, rs4251961 of the IL1RN gene, and rs1800630 of the TNF gene. Carriage of the minor allele A of the protective rs1801157 polymorphism A of the CXCL12 gene reduces the risk of B-ALL in the Kazakh population by 40%. Discussion: The results reveal significant associations of polymorphic genetic variants, which can serve as a basis for the development of effective methods for predicting the risk of B-ALL, early diagnosis, and timely treatment.

gene polymorphisms , genetic predisposition , Minor alleles , oncological disease , Population

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Department of the Republican Medical Genetic Consultation, Scientific Center for Obstetrics, Gynecology and Perinatology, Almaty, Kazakhstan
Department of Science and Education, Scientific Center of Pediatric and Children’s Surgery, Almaty, Kazakhstan
Scientific Center of Pediatric and Children’s Surgery, Almaty, Kazakhstan

Department of the Republican Medical Genetic Consultation
Department of Science and Education
Scientific Center of Pediatric and Children’s Surgery

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