| Autor: |
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 |
| Jazyk: |
angličtina |
| Rok vydání: |
2012 |
| Předmět: |
|
| Zdroj: |
PLoS ONE, Vol 7, Iss 4, p e34741 (2012) |
| Druh dokumentu: |
article |
| ISSN: |
1932-6203 |
| DOI: |
10.1371/journal.pone.0034741 |
| Popis: |
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 |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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