Related Experiment Video
Updated: Jan 13, 2026
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
miR-100 polymorphisms as novel genetic risk markers for pediatric acute lymphoblastic leukemia in North African
Amani Dhiflaoui1, Amira Daldoul2, Saouassen Chouchene3
1Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir, Tunisia.
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.
