Dataset Information

Whole-blood transcriptome profile in children with sickle cell anemia before and after exercise

ABSTRACT: Whole-blood transcriptome profile in children with sickle cell anemia before and after exercise

PROVIDER: PRJNA1022793 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Dataset's files

Source:

			Action	DRS
	SRR26499300_1.fastq.gz	Fastqsanger.gz
	SRR26499300_2.fastq.gz	Fastqsanger.gz
	SRR26499301_1.fastq.gz	Fastqsanger.gz
	SRR26499301_2.fastq.gz	Fastqsanger.gz
	SRR26499302_1.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 160

Similar Datasets

Project description:<p>Phenotypic heterogeneity is characteristic of sickle cell anemia, a Mendelian disorder caused by homozygosity for the sickle HBB gene (glu6val). Patients have different rates of hemolysis/vasculopathy and viscosity/vasoocclusion-related complications. These complications account for a substantial reduction in life expectancy. In 1994, the median life expectancy for men and women with sickle cell anemia was 42 and 48 years, respectively, and despite many advances in care, the annual mortality still approaches 4%. Fetal hemoglobin (HbF) is one of the most studied markers of severity of sickle cell anemia, and detailed longitudinal measurements were taken on subjects enrolled in the Cooperative Study of Sickle Cell Disease (CSSCD). Cubic root transformation of the median values from follow-up in 848 African American subjects is the phenotype data used in the GWAS of fetal hemoglobin. The analysis was adjusted by sex. Details are in Solovieff et al., Blood 2010 [PMID: <a href="http://www.ncbi.nlm.nih.gov/pubmed/20018918" target="_blank">20018918</a>].</p> <p>To integrate individual disease complications into a comprehensive measure of severity, we developed a model of the associations among clinical and laboratory variables that scored disease severity as the risk of death within 5 years. This network was developed using data obtained from more than 3,400 subjects from the CSSCD, and its accuracy was validated in two unrelated sets of sickle cell patients. Recently, the network was also validated in a small European cohort of patients with sickle cell anemia. We used extreme values of disease severity as cases and control in the GWAS of severity of sickle cell anemia. We conducted the GWAS in 1,265 patients with either "severe" (177) or "mild" disease (1088) based on a network model of disease severity. Details are in Sebastiani et al. Am J Hematol, 2010 [PMID: <a href="http://www.ncbi.nlm.nih.gov/pubmed/20029952" target="_blank">20029952</a>].</p>

Dataset Information

Whole-blood transcriptome profile in children with sickle cell anemia before and after exercise

Dataset's files

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets