A large-scale international study led by researchers from Newcastle University and other institutions has now that common inherited genetic factors increase the risk of developing acute myeloid leukemia (AML). Their findings were published in Nature Communications.
"The results provide an important basis for a deeper understanding of the disease and the biological mechanisms behind it. In the future, this could open up new possibilities for preventing and better treating the disease," says James M. Allan of Newcastle University. "These results are the outcome of a joint effort and were only possible thanks to many years of successful collaboration between researchers and medical professionals from ten different countries."
As part of the genome-wide association study, researchers specifically examined more than 7 million single nucleotide polymorphisms (SNPs) and detected an alteration in the KMT5B gene that was significantly more common in the more than 4,000 AML patients analyzed than in the comparison group of approximately 10,500 healthy individuals. The researchers also identified another genetic alteration in the HLA-DQB1 gene on chromosome 6p that was substantially more frequent in patients with normal karyotype AML, the most common subtype of this disease.
"We already know that one of the discovered risk genes plays an essential role in ensuring our immune system works properly. Consequently, our results show that a strong immune system protects us from developing AML, while a less efficient immune system increases the risk of developing AML," explains researcher Friedrich Stölzel from the University Hospital Dresden. "The very clear correlation of genetic factors and the occurrence of AML suggests that inherited genetic variants are a key factor in the development of disease," concluded Onel of the Icahn School of Medicine at Mount Sinai. “The relevant genetic traits are inherited and can be passed on within a family.”