Association of DDX58 177 C > T polymorphism with decreased risk of Epstein-Barr virus-related nodular sclerosis classical Hodgkin lymphoma.
Classical Hodgkin lymphoma (cHL) is frequently related to Epstein-Barr virus (EBV) infection. Its malignant capacity is attributed to disruption of an EBV-host balance influenced by environmental and genetic drivers. EBV structures activate Type I interferon (IFN) pathway of the innate immunity, therefore, genetic polymorphisms could influence this response. We explored the impact of four single nucleotide polymorphisms (SNPs) on EBV-associated cHL susceptibility. Toll-like receptors 9 (TLR9_rs5743836), and 3 (TLR3_rs3775291), Interleukin-28B (IL28B_rs12979860), and DEAD-box polypeptide 58 (DDX58_rs10813831) were genotyped in 73 EBV-positive and 106 EBV-negative cHL patients and 396 controls. Only DDX58_rs10813831 T-allele was decreased among EBV-positive cHL compared to controls. A stratified analysis in EBV-positive cHL showed that the reduced rate was associated with younger age and nodular sclerosis. In conclusion, DDX58_rs10813831 T-allele may be associated with a reduced risk of nodular sclerosis EBV-related cHL, which suggests a role for RIG-I (retinoic acid-inducible gene I), encoded by DDX58, in these cases.
a Group of Molecular Pathology , Instituto de Investigación Puerta de Hierro (IDIPHIM) , Majadahonda , Spain.
Paloma
P
Martin
b Group of Immunity and Lymphoproliferative Diseases , Instituto de Investigación Puerta de Hierro (IDIPHIM) , Majadahonda , Spain.
Jimena
J
Martínez-Velasquez
c Confocal Microscopy Unit , Instituto de Investigación Puerta de Hierro (IDIPHIM) , Majadahonda , Spain.
Maria Jose
MJ
Coronado
d Department of Hematology , Instituto de Investigación Puerta de Hierro (IDIPHIM) , Majadahonda , Spain.
Isabel
I
Krsnik
e Department of Oncology , Instituto de Investigación Puerta de Hierro (IDIPHIM) , Majadahonda , Spain.
Mariano
M
Provencio
d Department of Hematology , Instituto de Investigación Puerta de Hierro (IDIPHIM) , Majadahonda , Spain.
Belen
B
Navarro
f Group of Immunogenetics and Histocompatibility , Instituto de Investigación Puerta de Hierro (IDIPHIM) , Majadahonda , Spain.
Manuela
M
Moraru
a Group of Molecular Pathology , Instituto de Investigación Puerta de Hierro (IDIPHIM) , Majadahonda , Spain.
Carmen
C
Bellas
f Group of Immunogenetics and Histocompatibility , Instituto de Investigación Puerta de Hierro (IDIPHIM) , Majadahonda , Spain.
Carlos
C
Vilches
b Group of Immunity and Lymphoproliferative Diseases , Instituto de Investigación Puerta de Hierro (IDIPHIM) , Majadahonda , Spain.
Natalia
N
Gomez-Lozano
D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D002472:Cell Transformation, Viral; D000071457:DEAD Box Protein 58 / Q000235:genetics* / Q000378:metabolism; D020031:Epstein-Barr Virus Infections / Q000150:complications*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D004854:Herpesvirus 4, Human; D006689:Hodgkin Disease / Q000209:etiology* / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D011971:Receptors, Immunologic; D012598:Sclerosis; D055815:Young Adult
D011971:Receptors, Immunologic; C452820:RIGI protein, human; D000071457:DEAD Box Protein 58
Classical Hodgkin lymphoma; DDX58; EBV; IFN pathway; IL28B; TLR-3; TLR-9; genetic susceptibility; single nucleotide polymorphisms