rs114402357 - LINC00424 - LINC00540

Magnitude 4.5 · 1 study on file

Reported associations

• Genome-wide association study of erythrocyte density in sickle cell disease patients. - Blood cells, molecules & diseases (2018) · Ilboudo Y, Bartolucci P, Rivera A, Sedzro JC, Beaudoin M, Trudel M, Alper SL, Brugnara C, Galactéros F, Lettre G · PubMed 28552477

  Deoxy-hemoglobin S polymerization into rigid fibers is the direct cause of the clinical sequelae observed in sickle cell disease (SCD). The rate of polymerization of sickle hemoglobin is determined primarily by intracellular hemoglobin concentration, itself dependent on the amount of sickle hemoglobin and on red blood cell (RBC) volume. Dense, dehydrated RBC (DRBC) are observed in SCD patients, and their number correlates with hemolytic parameters and complications such as renal dysfunction, leg ulcers and priapism. To identify new genes involved in RBC hydration in SCD, we performed the first genome-wide association study for DRBC in 374 sickle cell anemia (HbSS) patients. We did not find genome-wide significant results, indicating that variants that modulate DRBC have modest-to-weak effe

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