The DOI matches its Crossref record; 27 of the 27 references it cites were found in a registry or an index.
APOL1 Genetic Variants in Focal Segmental Glomerulosclerosis and HIV-Associated Nephropathy
Open accessAbstract
Trypanolytic variants in APOL1, which encodes apolipoprotein L1, associate with kidney disease in African Americans, but whether APOL1-associated glomerular disease has a distinct clinical phenotype is unknown. Here we determined APOL1 genotypes for 271 African American cases, 168 European American cases, and 939 control subjects. In a recessive model, APOL1 variants conferred seventeenfold higher odds (95% CI 11 to 26) for focal segmental glomerulosclerosis (FSGS) and twenty-nine-fold higher odds (95% CI 13 to 68) for HIV-associated nephropathy (HIVAN). FSGS associated with two APOL1 risk alleles associated with earlier age of onset (P = 0.01) and faster progression to ESRD (P < 0.01) but similar sensitivity to steroids compared with other subjects. Individuals with two APOL1 risk alleles have an estimated 4% lifetime risk for developing FSGS, and untreated HIV-infected individuals have a 50% risk for developing HIVAN. The effect of carrying two APOL1 risk alleles explains 18% of FSGS and 35% of HIVAN; alternatively, eliminating this effect would reduce FSGS and HIVAN by 67%. A survey of world populations indicated that the APOL1 kidney risk alleles are present only on African chromosomes. In summary, African Americans carrying two APOL1 risk alleles have a greatly increased risk for glomerular disease, and APOL1-associated FSGS occurs earlier and progresses to ESRD more rapidly. These data add to the evidence base required to determine whether genetic testing for APOL1 has a use in clinical practice.
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Cites
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Metadata
- Authors
- Kopp, J. B., Nelson, G. W., Sampath, K., Johnson, R. C., Genovese, G., An, P., Friedman, D., Briggs, W., Dart, R., Korbet, S., Mokrzycki, M. H., Kimmel, P. L., Limou, S., Ahuja, T. S., Berns, J. S., Fryc, J., Simon, E. E., Smith, M. C., Trachtman, H., Michel, D. M., Schelling, J. R., Vlahov, D., Pollak, M., & Winkler, C. A.
- Venue
- Journal of the American Society of Nephrology
- Published
- 2011-11
- Volume
- 22
- Issue
- 11
- Pages
- 2129-2137
- ISSN
- 1046-6673 (ISSN-L)
- OpenAlex
- W2137096226
- Cited by
- 855
- References
- 27
- FWCI
- 31.36
- Type
- journal article
- Language
- en
- Open access
- green
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- Kopp, J. B., Nelson, G. W., Sampath, K., Johnson, R. C., Genovese, G., An, P., Friedman, D., Briggs, W., Dart, R., Korbet, S., Mokrzycki, M. H., Kimmel, P. L., Limou, S., Ahuja, T. S., Berns, J. S., Fryc, J., Simon, E. E., Smith, M. C., Trachtman, H., . . . Winkler, C. A. (2011). APOL1 Genetic Variants in Focal Segmental Glomerulosclerosis and HIV-Associated Nephropathy. Journal of the American Society of Nephrology. https://doi.org/10.1681/asn.2011040388
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