Genetic variants that increase risk of developing infant leukaemia not the same amongst all populations

Translated by Basque Research.

Acute lymphoblastic leukaemia (ALL) is the most common childhood cancer amongst the developed countries. In recent years, a number of studies have shown that, of the thousands of nucleotides that make up the DNA sequence of certain genes, changes in just one of them, such as ARID5B or IKZF1, predispose a person to childhood ALL. That is to say, those individuals who have these ARID5B and IKZF1 gene variants run a higher risk of having the disease. The mechanism, moreover, appears to be general, as it had been described amongst a number of different populations.

There is another gene – PIP4K2A – about which a new variant (SNP rs7088318) associated with increase of risk of contracting ALL childhood cancers has recently been described. This would be logical: the PIP4K2A gene is involved in cell differentiation and proliferation, whereby small variations modifying the gene function may facilitate greater multiplication of cells and, thus, the development of ALL.

However, the University of the Basque Country (UPV/EHU) research team, led by lecturer Ms. África García-Orad, together with Ms. Aurora Navajas, Head of the Child Oncology Section of the Cruces Hospital Paediatrics Service (Bilbao), has shown that the SNP rs7088318 variant of the PIP4K2A gene is not a marker for susceptibility in all populations. They analysed the risk variant in 191 ALL patients from various hospitals throughout Spain, together with 342 individuals of a control group; they discovered that the variant was present in 68% of patients and in 64% of the control group.

The research, in which postdoctoral researchers Ms. Elixabet López and Ms. Idoia Martín have participated, as well as pre-doctoral Ms.Ángela Gutiérrez, has been published in the Journal of the National Cancer Institute (JNCI), as response to an article about the new genetic risk variation published in May 2013 by a team led by Doctor Heng Xu.

“This work confirms that genetic variants exist that increase the risk of developing ALL only amongst certain populations. Thus, the results obtained in susceptibility studies are not always extrapolable and have to be checked amongst the different populations “, pointed out the lecturer from the Department of Genetics, Physical Anthropology and Animal Physiology at the UPV/EHU’s Faculty of Medicine and Odontology.  


Re: Novel Susceptibility Variants at 10p12.31-12.2 for Childhood Acute Lymphoblastic Leukemia in Ethnically Diverse Populations
Elixabet Lopez-Lopez; Angela Gutierrez-Camino; Idoia Martin-Guerrero; Africa Garcia-Orad
JNCI Journal of the National Cancer Institute 2013; doi: 10.1093/jnci/djt229


Caption: África García-Orad, Idoia Martín and Elixabet López