nstd91 (Sallustio et al. 2014)
- Organism:
- Human
- Study Type:
- Case-Control
- Submitter:
- Fabio Sallustio
- Description:
- We performed a whole-genome screening of CNVs in IgAN patients, their healthy relatives and healthy subjects (HS). A total of 217 individuals consisting of 51 IgAN cases and 166 healthy relatives were included in the initial screening. We identified 148 IgAN-specific aberrations, 105 loss and 43 gain. Several CNVs overlapped with regions evidenced by previous genome-wide genetic studies. Moreover, we found that IgAN patients characterized by deteriorated renal function carried low copy numbers of a CNV in chromosome 3. See Variant Summary counts for nstd91 in dbVar Variant Summary.
- Publication(s):
- Sallustio et al. 2014