Ontology highlight
ABSTRACT:
SUBMITTER: Milton JN
PROVIDER: S-EPMC3338756 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Milton Jacqueline N JN Sebastiani Paola P Solovieff Nadia N Hartley Stephen W SW Bhatnagar Pallav P Arking Dan E DE Dworkis Daniel A DA Casella James F JF Barron-Casella Emily E Bean Christopher J CJ Hooper W Craig WC DeBaun Michael R MR Garrett Melanie E ME Soldano Karen K Telen Marilyn J MJ Ashley-Koch Allison A Gladwin Mark T MT Baldwin Clinton T CT Steinberg Martin H MH Klings Elizabeth S ES
PloS one 20120427 4
Serum bilirubin levels have been associated with polymorphisms in the UGT1A1 promoter in normal populations and in patients with hemolytic anemias, including sickle cell anemia. When hemolysis occurs circulating heme increases, leading to elevated bilirubin levels and an increased incidence of cholelithiasis. We performed the first genome-wide association study (GWAS) of bilirubin levels and cholelithiasis risk in a discovery cohort of 1,117 sickle cell anemia patients. We found 15 single nucleo ...[more]