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Fig. 4 | BMC Medical Genetics

Fig. 4

From: A method for determining haploid and triploid genotypes and their association with vascular phenotypes in Williams syndrome and 7q11.23 duplication syndrome

Fig. 4

Associations of aortic pathology with rs2528795 genotype in 7q11.23 WS region deletions and duplications. Figure shows the percentage of severe SVAS (in participants with WS, left) and aortic dilation (in participants with Dup7, right) by rs2528795 genotype. Note that the G allele, which is the risk allele for stenosis in WS, is protective for aortic dilation in Dup7 (the opposite phenotype); the interaction of diagnosis and genotype predicted participants’ cardiovascular status, with over one-third of the variance explained by the model (Nagelkerke’s R2 = 0.351, p < 0.021)

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BMC Medical Genetics

ISSN: 1471-2350

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