Analysis of Mutational Status of , and Cytokine Polymorphisms As Prognostic Factors in Chronic Lymphocytic Leukemia: The Romanian Experience

Overview

Journal Int J Mol Sci

Publisher MDPI

Specialties Biochemistry
Chemistry
Molecular Biology

Date 2024 Feb 10

PMID 38339076

Authors

Beata Balla

Florin Tripon

Erzsebet Lazar

Claudia Banescu

Affiliations

Soon will be listed here.

Abstract

The aim of the current study was to assess the associations between genetic risk factors (such as the mutational status of the gene and polymorphisms of the and genes) and CLL risk, prognosis, and overall survival. Another goal of this study was to evaluate the multivariate effect of the combination of multiple genetic risk factors (mutational status of the gene, somatic mutations, DNA CNVs, and cytokine SNPs) on the clinical characteristics and survival of patients. A total of 125 CLL patients and 239 healthy controls were included for comparative SNP analysis. (rs1800896 and rs1800872) and (rs361525 and rs1800750) SNPs and haplotypes were not associated with CLL risk. The absence of hypermutation in the gene was shown to be of important prognostic value, being associated with short OS. Further individual risk factors for short OS were an age above 65 years at diagnosis and the presence of somatic mutations and/or CNVs. In our multivariable analysis, the presence of somatic mutations and the rs1800872 variant allele, and the association of CNVs with the rs1800896 variant allele, were identified as risk factors for short OS. Moreover, the OS in unmutated patients was additionally affected (decreased) by the presence of CNVs and/or somatic mutations. Similarly, rs1800896 modulated the OS in unmutated patients with CNVs.

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