nstd129 (Guo et al. 2016)
- Organism:
- Human
- Study Type:
- Control Set
- Submitter:
- Dongchuan Guo
- Description:
- We used the Illumina HumanExome array to genotype 753 patients of European descent presenting specifically sporadic thoracic aortic dissection (STAD) and compared them to the genotypes of 2259 controls. SNPs in FBN1, LRP1, and ULK4 were identified to be significantly associated with STAD, and these results were replicated in two independent cohorts. Case-control association study of genomic copy number variation (CNV) on these loci were further performed to test the allele frequency of CNV in patients with that of controls from the dbGaP database. CNV analysis independently confirmed that ULK4 deletions were significantly associated with development of thoracic aortic disease. These results indicate that genetic variations in LRP1 and ULK4 contribute to risk for presenting with an acute aortic dissection. The variant reported here was observed in a control individual. See Variant Summary counts for nstd129 in dbVar Variant Summary.
- Publication(s):
- Guo et al. 2016
- dbGaP:
- Subjects in this study are not consented to be included in a public DNA archive. To gain access to subject level data, see dbGaP.
- dbGaP Release Date:
- 2012-07-28