2010
DOI: 10.1126/science.1193032
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Association of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans

Abstract: African-Americans have higher rates of kidney disease than European-Americans. Here we show that in African-Americans, focal segmental glomerulosclerosis (FSGS) and hypertension-attributed end-stage kidney disease (H-ESKD) are associated with two independent sequence variants in the APOL1 gene on chromosome 22 [FSGS odds ratio = 10.5 (95% CI 6.0–18.4); H-ESKD odds ratio = 7.3 (95% CI 5.6–9.5)]. The two APOL1 variants are common in African chromosomes but absent from European chromosomes and both reside within … Show more

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Cited by 1,798 publications
(2,160 citation statements)
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References 25 publications
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“…Consistent with prior studies, G1 (risk allele for rs73885319 and rs60910145) is comprised of 2 missense mutations (S342G and I384M) and G2 (risk allele for rs71785313) is characterized by a 6 base pair deletion (del N388/Y389) 4, 5. We used a recessive genetic model, defining the APOL1 high‐risk genotypes as having 2 risk alleles (G1/G1, G1/G2, or G2/G2) and the low‐risk genotypes as having 1 or no risk alleles (G1/G0, G2/G0, G0/G0).…”
Section: Methodssupporting
confidence: 84%
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“…Consistent with prior studies, G1 (risk allele for rs73885319 and rs60910145) is comprised of 2 missense mutations (S342G and I384M) and G2 (risk allele for rs71785313) is characterized by a 6 base pair deletion (del N388/Y389) 4, 5. We used a recessive genetic model, defining the APOL1 high‐risk genotypes as having 2 risk alleles (G1/G1, G1/G2, or G2/G2) and the low‐risk genotypes as having 1 or no risk alleles (G1/G0, G2/G0, G0/G0).…”
Section: Methodssupporting
confidence: 84%
“…The APOL1 risk variants (rs73885319 and rs71785313) were genotyped using TaqMan assays (Applied Biosystems 7900) and DNA samples (extracted from buffy coat) collected at the baseline examination 4, 5, 30. Consistent with prior studies, G1 (risk allele for rs73885319 and rs60910145) is comprised of 2 missense mutations (S342G and I384M) and G2 (risk allele for rs71785313) is characterized by a 6 base pair deletion (del N388/Y389) 4, 5.…”
Section: Methodsmentioning
confidence: 99%
“…5 Mapping by admixture linkage disequilibrium studies revealed that variant alleles in the apolipoprotein L1 (APOL1) gene on chromosome 22 were strongly associated with an increased risk of renal disease among AAs. 6 Importantly, these APOL1 variants in the homozygous or compound heterozygous state increased the risk of hypertension-attributed ESRD and focal and segmental glomerulosclerosis by 10-to 17-fold and increased the risk of HIV-associated nephropathy by 29-fold. 6e8 The two APOL1 risk alleles are termed G1, which is a haplotype with two missense variants in near-complete linkage disequilibrium [c.(1072A>G; 1200T>G); p.(S342G; I384M); rs73885319 and rs60910145], and G2, which is an in-frame two amino acid deletion (c.1212_1217del6; p.Asn388_ Tyr389del; rs71785313).…”
mentioning
confidence: 99%
“…6e8 The two APOL1 risk alleles are termed G1, which is a haplotype with two missense variants in near-complete linkage disequilibrium [c.(1072A>G; 1200T>G); p.(S342G; I384M); rs73885319 and rs60910145], and G2, which is an in-frame two amino acid deletion (c.1212_1217del6; p.Asn388_ Tyr389del; rs71785313). 6,9 Carriers of two G1 or G2 alleles are at significantly increased risks for developing CKD and ESRD compared with both heterozygous G1 or G2 carriers and noncarriers. 6,10 The overall incidence rate of CKD has been reported to be approximately 12 events/1000 personyears and approximately 8 events/1000 person-years for AA individuals at high and low APOL1 genetic risk, respectively.…”
mentioning
confidence: 99%
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