학술논문
A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia.
Document Type
article
Author
Jacqueline N Milton; Paola Sebastiani; Nadia Solovieff; Stephen W Hartley; Pallav Bhatnagar; Dan E Arking; Daniel A Dworkis; James F Casella; Emily Barron-Casella; Christopher J Bean; W Craig Hooper; Michael R DeBaun; Melanie E Garrett; Karen Soldano; Marilyn J Telen; Allison Ashley-Koch; Mark T Gladwin; Clinton T Baldwin; Martin H Steinberg; Elizabeth S Klings
Source
PLoS ONE, Vol 7, Iss 4, p e34741 (2012)
Subject
Language
English
ISSN
1932-6203
Abstract
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 nucleotide polymorphisms (SNPs) associated with total bilirubin levels at the genome-wide significance level (p value