Impact of ABO gene polymorphism and von Willebrand factor on genetic susceptibility to acute lymphoblastic leukemia in Egyptian pediatric patients
Abstract Background Acute lymphoblastic leukemia (ALL) is the most common malignancy affecting children. The ABO blood group system and von Willebrand factor (VWF) have been associated with altering cancer risk, but few studies have examined their relationship with pediatric ALL. This study investig...
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| Language: | English |
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SpringerOpen
2025-01-01
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| Series: | Egyptian Journal of Medical Human Genetics |
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| Online Access: | https://doi.org/10.1186/s43042-024-00633-z |
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| author | Elsayed I. Salim Ahmed N. Shaaban Amal K. Seleem Zeinab I. Attia |
| author_facet | Elsayed I. Salim Ahmed N. Shaaban Amal K. Seleem Zeinab I. Attia |
| author_sort | Elsayed I. Salim |
| collection | DOAJ |
| description | Abstract Background Acute lymphoblastic leukemia (ALL) is the most common malignancy affecting children. The ABO blood group system and von Willebrand factor (VWF) have been associated with altering cancer risk, but few studies have examined their relationship with pediatric ALL. This study investigated the association between ABO gene polymorphism, VWF levels, ABO blood groups, and ALL risk in Egyptian pediatric patients. Methods Seventy-two ALL patients and 36 healthy controls were ABO phenotyped and genotyped for the ABO rs2519093 polymorphism using PCR–RFLP. VWF antigen levels were measured by ELISA. Results The CC genotype and C allele frequencies were significantly higher in ALL patients compared to controls (p < 0.001) and increased ALL risk by 12.94-fold and 7.63-fold, respectively. VWF levels were significantly higher in ALL patients versus controls overall (p = 0.006) and in the A, B, and O blood groups individually. After adjusting for VWF levels, the O, A, and B blood groups increased ALL risk 87.95-fold, 15.95-fold, and 8.77-fold, respectively, compared to AB. Conclusion The ABO C allele and O, A, and B blood groups are associated with increased pediatric ALL susceptibility in Egyptian patients, potentially through elevated VWF levels. These findings highlight ABO gene polymorphisms and blood groups as possible risk factors for ALL development. |
| format | Article |
| id | doaj-art-6de11a0f22bc473c9d0a3bfe3c215bed |
| institution | Kabale University |
| issn | 2090-2441 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Egyptian Journal of Medical Human Genetics |
| spelling | doaj-art-6de11a0f22bc473c9d0a3bfe3c215bed2025-01-26T12:36:46ZengSpringerOpenEgyptian Journal of Medical Human Genetics2090-24412025-01-0126111210.1186/s43042-024-00633-zImpact of ABO gene polymorphism and von Willebrand factor on genetic susceptibility to acute lymphoblastic leukemia in Egyptian pediatric patientsElsayed I. Salim0Ahmed N. Shaaban1Amal K. Seleem2Zeinab I. Attia3Research Laboratory of Molecular Carcinogenesis, Department of Zoology, Faculty of Science, Tanta UniversityResearch Laboratory of Molecular Carcinogenesis, Department of Zoology, Faculty of Science, Tanta UniversityDepartment of Medical Biochemistry, Faculty of Medicine, Mansoura UniversityResearch Laboratory of Molecular Carcinogenesis, Department of Zoology, Faculty of Science, Tanta UniversityAbstract Background Acute lymphoblastic leukemia (ALL) is the most common malignancy affecting children. The ABO blood group system and von Willebrand factor (VWF) have been associated with altering cancer risk, but few studies have examined their relationship with pediatric ALL. This study investigated the association between ABO gene polymorphism, VWF levels, ABO blood groups, and ALL risk in Egyptian pediatric patients. Methods Seventy-two ALL patients and 36 healthy controls were ABO phenotyped and genotyped for the ABO rs2519093 polymorphism using PCR–RFLP. VWF antigen levels were measured by ELISA. Results The CC genotype and C allele frequencies were significantly higher in ALL patients compared to controls (p < 0.001) and increased ALL risk by 12.94-fold and 7.63-fold, respectively. VWF levels were significantly higher in ALL patients versus controls overall (p = 0.006) and in the A, B, and O blood groups individually. After adjusting for VWF levels, the O, A, and B blood groups increased ALL risk 87.95-fold, 15.95-fold, and 8.77-fold, respectively, compared to AB. Conclusion The ABO C allele and O, A, and B blood groups are associated with increased pediatric ALL susceptibility in Egyptian patients, potentially through elevated VWF levels. These findings highlight ABO gene polymorphisms and blood groups as possible risk factors for ALL development.https://doi.org/10.1186/s43042-024-00633-zAcute lymphoblastic leukemiaALLvon Willebrand factorVWF AgABO blood groupABO gene |
| spellingShingle | Elsayed I. Salim Ahmed N. Shaaban Amal K. Seleem Zeinab I. Attia Impact of ABO gene polymorphism and von Willebrand factor on genetic susceptibility to acute lymphoblastic leukemia in Egyptian pediatric patients Egyptian Journal of Medical Human Genetics Acute lymphoblastic leukemia ALL von Willebrand factor VWF Ag ABO blood group ABO gene |
| title | Impact of ABO gene polymorphism and von Willebrand factor on genetic susceptibility to acute lymphoblastic leukemia in Egyptian pediatric patients |
| title_full | Impact of ABO gene polymorphism and von Willebrand factor on genetic susceptibility to acute lymphoblastic leukemia in Egyptian pediatric patients |
| title_fullStr | Impact of ABO gene polymorphism and von Willebrand factor on genetic susceptibility to acute lymphoblastic leukemia in Egyptian pediatric patients |
| title_full_unstemmed | Impact of ABO gene polymorphism and von Willebrand factor on genetic susceptibility to acute lymphoblastic leukemia in Egyptian pediatric patients |
| title_short | Impact of ABO gene polymorphism and von Willebrand factor on genetic susceptibility to acute lymphoblastic leukemia in Egyptian pediatric patients |
| title_sort | impact of abo gene polymorphism and von willebrand factor on genetic susceptibility to acute lymphoblastic leukemia in egyptian pediatric patients |
| topic | Acute lymphoblastic leukemia ALL von Willebrand factor VWF Ag ABO blood group ABO gene |
| url | https://doi.org/10.1186/s43042-024-00633-z |
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