Genetic mapping and exome sequencing identify 2 mutations associated with stroke protection in pediatric patients with sickle cell anemia

Blood. 2013 Apr 18;121(16):3237-45. doi: 10.1182/blood-2012-10-464156. Epub 2013 Feb 19.

Abstract

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 stroke risk in SCA. Genome-wide association studies were performed using genotype data from single-nucleotide polymorphism arrays, whereas a pooled DNA approach was used to perform whole-exome sequencing. In combination, 22 nonsynonymous variants were identified and represent key candidates for further in-depth study. To validate the association of these mutations with the risk for stroke, the 22 candidate variants were genotyped in an independent cohort of control patients (n = 231) and patients with stroke (n = 57) with SCA. One mutation in GOLGB1 (Y1212C) and another mutation in ENPP1 (K173Q) were confirmed as having significant associations with a decreased risk for stroke. These mutations were discovered and validated by an unbiased whole-genome approach, and future studies will focus on how these functional mutations may lead to protection from stroke in the context of SCA.

Publication types

  • Clinical Trial
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Anemia, Sickle Cell / complications*
  • Anemia, Sickle Cell / genetics
  • Child
  • Child, Preschool
  • Cohort Studies
  • Exome
  • Genome-Wide Association Study
  • Golgi Matrix Proteins
  • Humans
  • Membrane Proteins / genetics*
  • Mutation
  • Phosphoric Diester Hydrolases / genetics*
  • Polymorphism, Single Nucleotide*
  • Pyrophosphatases / genetics*
  • Risk Factors
  • Stroke / etiology*
  • Stroke / genetics*

Substances

  • Golgi Matrix Proteins
  • Membrane Proteins
  • macrogolgin
  • Phosphoric Diester Hydrolases
  • ectonucleotide pyrophosphatase phosphodiesterase 1
  • Pyrophosphatases