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Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
NPHS2 variation in sporadic focal segmental glomerulosclerosis
Louise M McKenzie1, Sher L Hendrickson, William A Briggs
1Laboratory of Genomic Diversity, SAIC-Frederick, National Cancer Institute, NCI-Frederick, Frederick, Maryland, USA.
Journal of the American Society of Nephrology : JASN
|October 19, 2007
Summary
Genetic variations in the NPHS2 gene (encoding podocin) may influence late-onset focal segmental glomerulosclerosis (FSGS). A specific NPHS2 haplotype in African-Americans was linked to reduced FSGS risk.
Area of Science:
- Nephrology
- Genetics
- Molecular Biology
Background:
- Mutations in NPHS2, encoding podocin, are known causes of pediatric FSGS.
- The role of NPHS2 in late-onset sporadic FSGS remains under-characterized.
Purpose of the Study:
- To investigate the association of NPHS2 gene polymorphisms with late-onset sporadic FSGS.
- To analyze the frequency of NPHS2 variants in different ethnic groups.
Main Methods:
- Studied 377 biopsy-confirmed FSGS cases and 919 controls.
- Resequenced NPHS2 to identify single nucleotide polymorphisms (SNPs).
- Genotyped missense, intronic, and 3' untranslated region SNPs in African-American and European-American cohorts.
Main Results:
- No homozygous or compound heterozygous missense mutations were found.
- R138Q NPHS2 variant carriers were more frequent in FSGS cases (OR=4.9, P=0.06).
- A common noncoding SNP haplotype in African-Americans was associated with a 50% reduced risk of sporadic FSGS (OR=0.5, P=0.001).
Conclusions:
- NPHS2 genetic variation may contribute to the pathogenesis of late-onset sporadic FSGS.
- Specific NPHS2 polymorphisms and haplotypes show differential risk associations across ethnic groups.
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