Article
Genetic mapping and exome sequencing identify 2 mutations associated with stroke protection in pediatric patients with sickle cell anemia.
Blood - 18 Apr 2013
Flanagan Jonathan M, Sheehan Vivien, Linder Heidi, Howard Thad A, Wang Yong-Dong, Hoppe Carolyn C, Aygun Banu, Adams Robert J, Neale Geoffrey A, Ware Russell E
Abstract excerpt
Stroke is a devastating complication of sickle cell anemia (SCA), occurring in 11% of patients before age 20 years. Previous studies of sibling pairs have demonstrated a genetic component to the development of cerebrovascular disease in SCA, but few candidate genetic modifiers have been validated as having a substantial effect on stroke risk. We performed an unbiased whole-genome search for genetic modifiers of...
Topics
- Adolescent
- Anemia, Sickle Cell
- Child
- Child, Preschool
- Cohort Studies
- Exome
- Genome-Wide Association Study
- Golgi Matrix Proteins
- Humans
- Membrane Proteins
- Mutation
- Phosphoric Diester Hydrolases
- Polymorphism, Single Nucleotide