A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9.
paper
Cited
Public
- Authors
- Genovese, Giulio; Tonna, Stephen J; Knob, Andrea U; Appel, Gerald B; Katz, Avi; Bernhardy, Andrea J; Needham, Alexander W; Lazarus, Ross; Pollak, Martin R
- Year
- 2010
- Journal
- Kidney international
- PMID
- 20668430
- DOI
- 10.1038/ki.2010.251
- PMCID
- PMC3001190
Genetic variation at the MYH9 locus is linked to the high incidence of focal segmental glomerulosclerosis (FSGS) and non-diabetic end-stage renal disease among African Americans. To further define risk alleles with FSGS we performed a genome-wide association analysis using more than one million single-nucleotide polymorphisms in 56 African-American and 61 European-American patients with biopsy-confirmed FSGS. Results were compared to 1641 European Americans and 1800 African Americans as unselected controls. While no association was observed in the cohort of European Americans, the case-control comparison of African Americans found variants within a 60 kb region of chromosome 22 containing part of the APOL1 and MYH9 genes associated with increased risk of FSGS. This region spans different linkage disequilibrium blocks, and variants associating with disease within this region are in linkage disequilibrium with variants which have shown signals of natural selection. APOL1 is a strong candidate for a gene that has undergone recent natural selection and is known to be involved in the infection by Trypanosoma brucei, a parasite common in Africa that has recently adapted to infect human hosts. Further studies will be required to establish which variants are causally related to kidney disease, what mutations caused the selective sweep, and to ultimately determine if these are the same.
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| Name | Type |
|---|---|
| 1000 Genomes Project | cohort |
| ACTN4 local | gene |
| adult-onset disease local | phenotype |
| African | cohort |
| African American | cohort |
| African Yoruba local | cohort |
| African Yoruba HapMap participants local | cohort |
| African Yoruba population local | cohort |
| African Yoruba samples local | cohort |
| African Yoruba (YRI) local | cohort |
| APOL1 local | gene |
| APOL1 C-terminal mutation local | variant |
| APOL1-MYH9 locus local | gene |
| APOL2 local | gene |
| APOL3 local | gene |
| APOL4 local | gene |
| cases | cohort |
| cases (n=56) local | cohort |
| common variants | cohort |
| controls | cohort |
| disease | phenotype |
| DNA | drug |
| E-1 local | variant |
| E-1p local | variant |
| EA controls | cohort |
| European American cases local | cohort |
| European ancestry | cohort |
| European FSGS samples local | cohort |
| European population | cohort |
| Europeans | cohort |
| Europeans (CEU) local | cohort |
| families affected with FSGS local | cohort |
| Focal and segmental glomerulosclerosis (FSGS) local | phenotype |
| FSGS local | phenotype |
| haplotype E-1 local | variant |
| haplotype E-1p local | variant |
| haplotype T-1 local | variant |
| HapMap | cohort |
| HIV-associated nephropathy local | phenotype |
| hypertensive renal disease local | phenotype |
| iControldb database local | drug |
| idiopathic proteinuria local | phenotype |
| Illumina 1M-Duo array local | drug |
| Illumina 1M-Duo chip local | drug |
| Illumina 1M-Duo platform local | drug |
| Illumina 550Kv3 array local | drug |
| Illumina 550Kv3 chip local | drug |
| Illumina 550Kv3 platform local | drug |
| Illumina African American cohort local | cohort |
| Illumina European cohort local | cohort |
| Illumina iControl database local | cohort |
| Kidney disease | phenotype |
| MYH9 local | gene |
| non-European ancestry | cohort |
| NPHS2 local | gene |
| pediatric FSGS local | phenotype |
| PLCE1 local | gene |
| Polymorphic locus t local | variant |
| population structure | phenotype |
| primary renal injury local | phenotype |
| rs11912763 local | variant |
| rs136187 local | variant |
| rs16996648 local | variant |
| rs16996672 local | variant |
| rs16996677 local | variant |
| rs1699672 local | variant |
| rs2239784 local | variant |
| rs2239785 local | variant |
| rs3752462 local | variant |
| rs4821481 local | variant |
| rs5756152 local | variant |
| rs7284919 local | variant |
| rs7364143 local | variant |
| rs8141971 local | variant |
| rs9622363 local | variant |
| Serum Resistance-Associated protein local | drug |
| SNP | cohort |
| Southern European populations local | cohort |
| Sporadic biopsy-confirmed FSGS subjects local | cohort |
| sporadic non-familial FSGS local | phenotype |
| steroid-resistant nephrotic syndrome local | phenotype |
| T-1 local | variant |
| TRPC6 local | gene |
| Trypanosoma brucei rhodesiense local | drug |
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