NPHS2 Variations in Focal and Segmental Glomerulosclerosis
Author Information
Author(s): Tonna Stephen J, Needham Alexander, Polu Krishna, Uscinski Andrea, Appel Gerald B, Falk Ronald J, Katz Avi, Al-Waheeb Salah, Kaplan Bernard S, Jerums George, Savige Judy, Harmon Jennifer, Zhang Kang, Curhan Gary C, Pollak Martin R
Primary Institution: Brigham and Women's Hospital, Boston, Massachusetts, USA
Hypothesis
What is the contribution of NPHS2 mutations to late-onset focal and segmental glomerulosclerosis (FSGS)?
Conclusion
NPHS2 mutations are a rare cause of FSGS in adults, and the common variants do not significantly affect the risk of proteinuria.
Supporting Evidence
- 15 non-synonymous alleles were identified in 63 subjects screened.
- 12 individuals had two likely disease-causing NPHS2 alleles.
- The presence of common NPHS2 variants did not significantly alter the risk of albuminuria.
Takeaway
This study looked at a gene called NPHS2 in people with a kidney problem called FSGS. They found that changes in this gene are not very common in adults with this problem.
Methodology
The study analyzed DNA samples from 371 individuals with late-onset FSGS to identify genetic variations.
Potential Biases
Potential bias in sample selection as most subjects were referred by nephrologists.
Limitations
The study may not capture all genetic variations due to the focus on NPHS2 and the exclusion of other potential causes of FSGS.
Participant Demographics
The sample included 371 individuals, predominantly Caucasian, with a mean age of onset of 25 years.
Statistical Information
P-Value
0.00057
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website