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Genetic Variant Tied to Leukemia Risk in Hispanic Children

Novel susceptibility locus identified in the ERG gene for acute lymphoblastic leukemia

MONDAY, Feb. 25, 2019 (HealthDay News) — Genetic variations have been identified in the ERG gene that are associated with an increased risk for acute lymphoblastic leukemia (ALL) in Hispanic children, according to a study recently published in Blood.

Noting that Hispanics are disproportionally affected by ALL, Maoxiang Qian, from the St. Jude Children’s Research Hospital in Memphis, Tennessee, and colleagues performed a genome-wide association study in 940 Hispanic children with ALL and 681 ancestry-matched non-ALL controls.

The researchers identified a novel susceptibility locus in the ERG gene (rs2836365, odds ratio, 1.56), which was independently validated (odds ratio, 1.43). A single causal variant was found to drive the correlation signal at this locus in imputation analyses, which overlapped with putative regulatory DNA elements. With increasing Native American genetic ancestry, the effect size of the ERG risk variant increased. In ALL with the ETV6-RUNX1 fusion, the ERG risk genotype was underrepresented; however, it was enriched in the TCF3-PBX1 subtype. Somatic ERG deletion was significantly less likely for ALL cases with germline ERG risk alleles.

“The more we understand the biology behind these disparities, the more likely we are to develop more effective therapies for different patient populations or better methods to track and monitor disease risk,” a coauthor said in a statement.

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