Frequency distribution of BLMH, XPO5 and HFE gene polymorphisms in the South Indian population and their association with Hodgkin Lymphoma

Hodgkin lymphoma, a highly curable malignancy is currently treated with an adriamycin, bleomycin (BLM), vinblastine, and dacarbazine (ABVD) regimen. BLM-induced pulmonary toxicity (BPT) is one of the dose-limiting toxicities. Previous reports have revealed that genetic variants rs1050565, rs11077, and rs1800562 are involved in the development of BPT. These results cannot be extrapolated to the South Indian population because of their ethnic difference. This study aimed to determine the frequency of rs1050565, rs11077, and rs1800562 variants in South Indian healthy individuals and Hodgkin lymphoma cases. These frequencies were compared with 1000 genome populations’ data. We also assessed if these variants modified the risk to Hodgkin lymphoma. A total of 200 healthy individuals and 101 cases with Hodgkin lymphoma were recruited for this case-control study after ethical approval. Blood samples were collected from the study participants and DNA was extracted. Genotyping of rs1050565, rs11077, and rs1800562 variants was done using real-time polymerase chain reaction. A chi-square test was used to assess the differences in genotype frequency data between cases and controls. The minor allele frequencies of rs1050565 and rs11077 were 4.3% and 39%, respectively, whereas all the individuals were wild-type for rs1800562 mutation. The frequencies significantly differed from 1000 genome data. The variants did not alter the risk for Hodgkin lymphoma. We determined the frequencies of rs1050565, rs11077, and rs1800562 variants in South Indian healthy individuals, and the frequencies differed significantly from 1000 genome populations. We also found that the studied polymorphisms are not associated with Hodgkin lymphoma risk in the South Indian population