Cancer genetics · 2025
miR-100 polymorphisms as novel genetic risk markers for pediatric acute lymphoblastic leukemia in North African tunisians.
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Dhiflaoui Amani, Daldoul Amira, Chouchene Saouassen, Chenbeh Wafa, Boukhris Sarra, Almawi Wassim Y, Abdennebi Hassen Ben
Аннотация
BACKGROUND: While miR-100 is a tumor suppressor in several malignancies, its role in pediatric acute lymphoblastic leukemia (ALL) remains poorly understood. This study investigated the relationship between two miR-100 single-nucleotide polymorphisms (SNPs), rs543412 and rs183430, and ALL susceptibility in North African Tunisian children.
METHODS: We conducted a case-control study involving 128 pediatric ALL patients and 157 healthy controls. Genotyping of rs543412 and rs183430 was performed using TaqMan SNP assays. Logistic regression analysis was used to assess associations between genotypes, haplotypes, and ALL risk, with multiple corrections applied.
RESULTS: The rs543412 T allele was more frequent in ALL cases than controls (41 % vs. 32 %, p = 0.046), and increased ALL risk was seen with C/T (OR=2.20, 95 %CI=1.03-4.70) and T/T (OR=2.48, 95 %CI=1.16- 5.28) genotypes. However, this association did not survive multiple testing correction. The rs183430 G allele showed stronger association with ALL (57 % vs. 41 %, p < 0.001), and with G/G homozygosity conferring a markedly elevated risk (OR=2.94, 95 %CI:1.56-5.54). Two-locus haplotype analysis revealed that C∼G (aOR=1.77, 95 %CI=1.09-2.88) and T∼G (aOR=2.59, 95 %CI=1.51-4.44) haplotypes significantly increased ALL risk. However, no significant associations were observed between these polymorphisms and the clinicopathological features.
CONCLUSIONS: This exploratory study identifies rs183430 as significantly associated with pediatric ALL susceptibility in North African children. These preliminary results suggest that miR-100 SNPs could serve as potential ALL biomarkers, although validation in independent cohorts is needed before clinical use.
METHODS: We conducted a case-control study involving 128 pediatric ALL patients and 157 healthy controls. Genotyping of rs543412 and rs183430 was performed using TaqMan SNP assays. Logistic regression analysis was used to assess associations between genotypes, haplotypes, and ALL risk, with multiple corrections applied.
RESULTS: The rs543412 T allele was more frequent in ALL cases than controls (41 % vs. 32 %, p = 0.046), and increased ALL risk was seen with C/T (OR=2.20, 95 %CI=1.03-4.70) and T/T (OR=2.48, 95 %CI=1.16- 5.28) genotypes. However, this association did not survive multiple testing correction. The rs183430 G allele showed stronger association with ALL (57 % vs. 41 %, p < 0.001), and with G/G homozygosity conferring a markedly elevated risk (OR=2.94, 95 %CI:1.56-5.54). Two-locus haplotype analysis revealed that C∼G (aOR=1.77, 95 %CI=1.09-2.88) and T∼G (aOR=2.59, 95 %CI=1.51-4.44) haplotypes significantly increased ALL risk. However, no significant associations were observed between these polymorphisms and the clinicopathological features.
CONCLUSIONS: This exploratory study identifies rs183430 as significantly associated with pediatric ALL susceptibility in North African children. These preliminary results suggest that miR-100 SNPs could serve as potential ALL biomarkers, although validation in independent cohorts is needed before clinical use.