Málstofa Lífvísindaseturs - DNA variants in the regulation of fetal globin expression 

Málstofa Lífvísindaseturs fimmtudaginn 20. febrúar kl. 12:30-13:10 í Öskju, stofu N-132

Fyrirlesari: Dr. Magnús Karl Magnússon, prófessor við Læknadeild, Háskóla Íslands og við Íslenska erfðagreiningu

Titill: Novel DNA variants offer insight into the regulation of fetal globin expression 

Ágrip: High fetal hemoglobin level is the most important predictor of favorable clinical outcome in sickle cell disease. We carried out a genome-wide association study (GWAS) on fetal RNA beta globin expression ratio using blood RNA sequence data from 22,093 Icelanders. In addition to the well-known BCL11A, HBB/HBG2 and HBS1L-MYB loci, we found 33 loci associated with beta globin expression.  Rare DNA variants with large effects on fetal hemoglobin level offer novel insights into the regulatory network pointing to potential drug targets.