MALAT1 Gene Variants rs619586, rs664589, and rs3200401 and Their Association with Non-Hodgkin Lymphoma Risk: Evidence...

Non-Hodgkin lymphoma (NHL) represents a diverse spectrum of lymphoid malignancies, which are defined by abnormal proliferation of lymphocytes and the absence of Reed-Sternberg cells. Both genetic and epigenetic mechanisms play critical roles in the etiology of this group of cancers. In this context, the present study aimed to assess the potential relationship between three specific single nucleotide polymorphisms (SNPs) in the MALAT1 gene namely rs619586 A>G, rs664589 C>G, and rs3200401 C>T and their association with susceptibility to NHL in a population sample from Zahedan, Iran.

A case-control study design was utilized, comprising 185 individuals diagnosed with NHL (118 men and 67 women; mean age: 45.46 ± 15.44 years) and an equal number of age- and sex-matched healthy controls (106 men and 79 women; mean age: 43.26 ± 12.27 years). Genomic DNA was isolated from peripheral blood leukocytes using the conventional salting-out method. Genotyping for the selected MALAT1 polymorphisms was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and amplification refractory mutation system PCR (ARMS-PCR) methodologies. Statistical evaluations were performed using chi-square tests, independent sample t-tests, and logistic regression models to analyze the data.

The rs3200401 C>T polymorphism of the MALAT1 gene was significantly associated with a reduced risk of NHL, suggesting a protective effect (P<0.05). Similarly, the rs619586 A>G variant showed a significant protective association with NHL. In contrast, the rs664589 C>G polymorphism did not show any significant differences in genotype or allele frequencies between NHL patients and healthy subjects (P>0.05).

The findings suggest that MALAT1 gene polymorphisms, particularly rs3200401 and rs619586, as well as the TCG haplotype, may influence susceptibility to non-Hodgkin lymphoma and serve as potential genetic biomarkers. However, further studies involving larger and ethnically diverse cohorts are required to validate these associations.