Paola Sebastiani1, 6, Marco F Ramoni2, 6, Vikki Nolan3, Clinton T Baldwin4
& Martin H Steinberg51
Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts 02118, USA.
2
Children's Hospital Informatics Program and Harvard Partners Center for Genetics and Genomics, Harvard Medical School, Boston, Massachusetts 02115, USA.
3
Department of Epidemiology, Boston University School of Public Health, Boston, Massachusetts 02118, USA.
4
Center for Human Genetics and Department of Pediatrics, Boston University School of Medicine, Boston, Massachusetts 02118, USA.
5
Department of Medicine, Boston University School of Medicine, Boston, Massachusetts 02118, USA.
6
These authors contributed equally to this work.
Correspondence should be addressed to Marco F Ramoni marco_ramoni@harvard.edu
-globin locus. SCA is phenotypically complex, with different clinical courses ranging from early childhood mortality to a virtually unrecognized condition. Overt stroke is a severe complication affecting 6−8% of individuals with SCA. Modifier genes might interact to determine the susceptibility to stroke, but such genes have not yet been identified. Using Bayesian networks, we analyzed 108 SNPs in 39 candidate genes in 1,398 individuals with SCA. We found that 31 SNPs in 12 genes interact with fetal hemoglobin to modulate the risk of stroke. This network of interactions includes three genes in the TGF-
