Please use this identifier to cite or link to this item: http://hdl.handle.net/1946/22111
Background: Infectious Mononucleosis (IM) is a benign lymphoproliferation that results from primary Epstein-Barr virus (EBV) infection, delayed until adolescence or young adulthood. It is well established that EBV is also a co factor in the development of many malignant diseases, one of them being Hodgkin Lymphoma (HL). In addition to EBV infection, a history of IM has further been identified as a risk factor for HL. A genetic predisposition to both diseases has been proposed. This study aimed to evaluate single nucleotide polymorphisms (SNPs) associated with HL, in relation to IM development, to try and determine a common genetic factor between the diseases.
Method: DNA samples from 343 individuals, 194 IM cases and 149 controls (EBV seropositive and asymptomatic EBV seroconvertors), were genotyped using TaqMan PCR technology for five SNPs associated with risk of HL and defense against viral infection. Two SNPs are located in genes encoding the EOMES and TCF3 proteins, essential for B and T cell development. Two SNPs locate to the IL-28b gene and the fifth SNP to the HLA class II locus and the DP-beta 2 gene. Minor allele frequency and genotype distribution were compared across the study groups.
Results: The G allele of SNP rs6457715 (DP-beta 2 gene), is associated with increased risk of IM development (OR: 1.7, CI: 1.039-2.924, P=0.035). This association was pronounced for the GG genotype (OR: 7.3, CI: 1.984-26.735, P=0.003). Previous association with the HLADRB1* 01:01 allele and IM was also confirmed (OR: 4.7, CI: 1.713-12.919, P=0.003).
Conclusion: The results suggest a common genetic factor, located in the DP-beta 2 gene, for IM and EBV positive HL. Further investigation of the role of this gene, along with SNPs in linkage with this gene is required in larger study groups.