(HealthDay News) — Novel coding and noncoding gene variants have been identified that may increase the risk for developing Hodgkin lymphoma (HL), according to a study published in Blood.
Jamie E. Flerlage, MD, from St. Jude Research Hospital in Memphis, Tennessee, and colleagues performed whole-genome sequencing on 234 individuals with and without HL from 36 pedigrees with 2 or more first-degree relatives with HL. To identify coding and noncoding variants, a family-based segregation analysis was performed.
The researchers identified 44 HL risk variants in 28 pedigrees, of which 33 and 11 were coding and noncoding, respectively. The top 4 recurrent risk variants were a coding variant in KDR, a 5’UTR in KLHDC8B, and noncoding variants in an intron of PAX5 and in an intron of GATA3.
For 1 pedigree, a newly identified splice variant in KDR and high confidence stopgain variants affecting IRF7 and EEF2KMT were seen. In 3 independent pedigrees, multiple truncating variants in POLR1E were observed.
“We married several existing tools as well as customized approaches to make a pipeline that could process data from these families in a meaningful way,” a coauthor said in a statement. “The work that went into making this pipeline is not specific to Hodgkin lymphoma; the pipeline can be used for any other disease where families are involved.”