Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia

作者: Paola Sebastiani , Marco F Ramoni , Vikki Nolan , Clinton T Baldwin , Martin H Steinberg

DOI: 10.1038/NG1533

关键词:

摘要: Sickle cell anemia (SCA) is a paradigmatic single gene disorder caused by homozygosity with respect to unique mutation at the β-globin locus. SCA phenotypically complex, different clinical courses ranging from early childhood mortality virtually unrecognized condition. Overt stroke severe complication affecting 6–8% of individuals SCA. Modifier genes might interact determine susceptibility stroke, but such have not yet been identified. Using Bayesian networks, we analyzed 108 SNPs in 39 candidate 1,398 We found that 31 12 fetal hemoglobin modulate risk stroke. This network interactions includes three TGF-β pathway and SELP, which associated general population. validated this model population predicting occurrence 114 98.2% accuracy.

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