Histopathologic findings associated with APOL1 risk variants in chronic kidney disease

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APOL1 Risk Variants Independently Associated With Early Cardiovascular Disease Death

Introduction The relationship of APOL1 renal risk variants to cardiovascular disease (CVD) is controversial and was the subject of this investigation. Methods Age, cause of death, and nephrosclerosis (the latter defined by glomerulosclerosis) were analyzed in the autopsies of 162 African Americans and 136 whites genotyped for APOL1 risk alleles. Results Sudden deaths represented >75% of CVD...

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Effect of APOL1 disease risk variants on APOL1 gene product

Gene sequence mutations may alter mRNA transcription, transcript stability, protein translation, protein stability and protein folding. Apolipoprotein L1 (APOL1) has two sets of sequence variants that are risk factors for kidney disease development, APOL1G1 (substitution mutation) and APOL1G2 (deletion mutation). Our present study focuses on the impact of these variants on APOL1 mRNA transcript...

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No evidence for association with APOL1 kidney disease risk

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Sequencing rare and common APOL1 coding variants to determine kidney disease risk

A third of African Americans with sporadic focal segmental glomerulosclerosis (FSGS) or HIV-associated nephropathy (HIVAN) do not carry APOL1 renal risk genotypes. This raises the possibility that other APOL1 variants may contribute to kidney disease. To address this question, we sequenced all APOL1 exons in 1437 Americans of African and European descent, including 464 patients with biopsy-prov...

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Association of trypanolytic ApoL1 variants with kidney disease in African Americans.

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% confidence interval (CI) 6.0 to 18.4]; H-ESKD odds rat...

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ژورنال

عنوان ژورنال: Modern Pathology

سال: 2014

ISSN: 0893-3952,1530-0285

DOI: 10.1038/modpathol.2014.92