Genetics of kidney failure and the evolving story of APOL1.

PubWeight™: 1.69‹?› | Rank: Top 3%

🔗 View Article (PMC 3163957)

Published in J Clin Invest on September 01, 2011

Authors

David J Friedman1, Martin R Pollak

Author Affiliations

1: Nephrology Division, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, Massachusetts 02115, USA. dfriedma@bidmc.harvard.edu

Articles citing this

Lifetime incidence of CKD stages 3-5 in the United States. Am J Kidney Dis (2013) 3.82

Innate immunity pathways regulate the nephropathy gene Apolipoprotein L1. Kidney Int (2014) 2.83

Increased burden of cardiovascular disease in carriers of APOL1 genetic variants. Circ Res (2013) 1.82

Apolipoprotein L1 gene variants associate with prevalent kidney but not prevalent cardiovascular disease in the Systolic Blood Pressure Intervention Trial. Kidney Int (2014) 1.71

Kidney transplant access in the Southeast: view from the bottom. Am J Transplant (2014) 1.71

APOL1 kidney disease risk variants cause cytotoxicity by depleting cellular potassium and inducing stress-activated protein kinases. Proc Natl Acad Sci U S A (2015) 1.68

Influence of race, ethnicity and socioeconomic status on kidney disease. Nat Rev Nephrol (2012) 1.67

Gene-gene and gene-environment interactions in apolipoprotein L1 gene-associated nephropathy. Clin J Am Soc Nephrol (2014) 1.65

Genetic variation in APOL1 and MYH9 genes is associated with chronic kidney disease among Nigerians. Int Urol Nephrol (2012) 1.32

APOL1-G1 in Nephrocytes Induces Hypertrophy and Accelerates Cell Death. J Am Soc Nephrol (2016) 1.09

APOL1 null alleles from a rural village in India do not correlate with glomerulosclerosis. PLoS One (2012) 1.08

Explaining the racial difference in AKI incidence. J Am Soc Nephrol (2014) 0.97

Socioeconomic disparities in chronic kidney disease. Adv Chronic Kidney Dis (2015) 0.96

Genetic variation and adaptation in Africa: implications for human evolution and disease. Cold Spring Harb Perspect Biol (2014) 0.94

Population ancestry and genetic risk for diabetes and kidney, cardiovascular, and bone disease: modifiable environmental factors may produce the cures. Am J Kidney Dis (2013) 0.93

Genetic variants in Arhgef11 are associated with kidney injury in the Dahl salt-sensitive rat. Hypertension (2012) 0.89

A consideration of genetic mechanisms behind the development of hypertension in blacks. Curr Hypertens Rep (2013) 0.88

Genetic variants and cell-free hemoglobin processing in sickle cell nephropathy. Haematologica (2015) 0.86

APOL1 Risk Alleles Are Associated with Exaggerated Age-Related Changes in Glomerular Number and Volume in African-American Adults: An Autopsy Study. J Am Soc Nephrol (2015) 0.85

Apolipoprotein L1 and Kidney Disease in African Americans. Trends Endocrinol Metab (2016) 0.82

Association Analysis of the Cubilin (CUBN) and Megalin (LRP2) Genes with ESRD in African Americans. Clin J Am Soc Nephrol (2016) 0.80

Association of genetic variants with dyslipidemia and chronic kidney disease in a longitudinal population-based genetic epidemiological study. Int J Mol Med (2015) 0.79

Diversity and inclusion in genomic research: why the uneven progress? J Community Genet (2017) 0.79

Combined Effects of GSTM1 Null Allele and APOL1 Renal Risk Alleles in CKD Progression in the African American Study of Kidney Disease and Hypertension Trial. J Am Soc Nephrol (2016) 0.78

Transgenic expression of human APOL1 risk variants in podocytes induces kidney disease in mice. Nat Med (2017) 0.77

Risk factors: Race, renal disease and albuminuria. Nat Rev Nephrol (2011) 0.75

Genetic variants and risk of chronic kidney disease. Perit Dial Int (2014) 0.75

Actualizing the Benefits of Genomic Discovery in Pediatric Nephrology. J Pediatr Genet (2015) 0.75

APOL1 Risk Alleles are Associated with More Severe Arteriosclerosis in Renal Resistance Vessels with Aging and Hypertension. KI Rep (2016) 0.75

Apolipoprotein L1 Genetic Variants Are Associated with Chronic Kidney Disease but Not with Cardiovascular Disease in a Population Referred for Cardiac Catheterization. Cardiorenal Med (2016) 0.75

Mature induced-pluripotent-stem-cell-derived human podocytes reconstitute kidney glomerular-capillary-wall function on a chip. Nat Biomed Eng (2017) 0.75

Articles cited by this

A map of human genome variation from population-scale sequencing. Nature (2010) 121.13

Detecting recent positive selection in the human genome from haplotype structure. Nature (2002) 22.00

Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science (2010) 16.00

M-type phospholipase A2 receptor as target antigen in idiopathic membranous nephropathy. N Engl J Med (2009) 11.81

MYH9 is associated with nondiabetic end-stage renal disease in African Americans. Nat Genet (2008) 9.50

MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis. Nat Genet (2008) 9.00

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet (2000) 7.98

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat Genet (2000) 7.39

A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science (2005) 7.03

Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. N Engl J Med (2011) 6.34

African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping. Annu Rev Genomics Hum Genet (2008) 6.06

IgA nephropathy. N Engl J Med (2002) 5.85

Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene. Hum Genet (2010) 5.68

Genomics, type 2 diabetes, and obesity. N Engl J Med (2010) 5.58

New loci associated with kidney function and chronic kidney disease. Nat Genet (2010) 5.58

Fundamental concepts in genetics: effective population size and patterns of molecular evolution and variation. Nat Rev Genet (2009) 5.45

Polycystic kidney disease. Annu Rev Med (2009) 4.78

Multiple loci associated with indices of renal function and chronic kidney disease. Nat Genet (2009) 4.78

Familial clustering of diabetic kidney disease. Evidence for genetic susceptibility to diabetic nephropathy. N Engl J Med (1989) 4.40

Genome-wide and fine-resolution association analysis of malaria in West Africa. Nat Genet (2009) 4.30

Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol (2004) 3.55

Autophagy influences glomerular disease susceptibility and maintains podocyte homeostasis in aging mice. J Clin Invest (2010) 3.44

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat Genet (2009) 3.20

Genome-wide association study identifies susceptibility loci for IgA nephropathy. Nat Genet (2011) 3.15

A VSG expression site-associated gene confers resistance to human serum in Trypanosoma rhodesiense. Cell (1998) 3.08

Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet (2002) 2.90

Which evolutionary processes influence natural genetic variation for phenotypic traits? Nat Rev Genet (2007) 2.45

The apolipoprotein L family of programmed cell death and immunity genes rapidly evolved in primates at discrete sites of host-pathogen interactions. Genome Res (2009) 2.35

Human red blood cell polymorphisms and malaria. Curr Opin Microbiol (2006) 2.34

Apolipoprotein L1, a novel Bcl-2 homology domain 3-only lipid-binding protein, induces autophagic cell death. J Biol Chem (2008) 2.30

Admixture mapping comes of age. Annu Rev Genomics Hum Genet (2010) 2.23

The familial risk of end-stage renal disease in African Americans. Am J Kidney Dis (1993) 2.22

IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22-23. Nat Genet (2000) 2.12

Uromodulin levels associate with a common UMOD variant and risk for incident CKD. J Am Soc Nephrol (2009) 2.10

Absence of HIV-associated nephropathy in Ethiopians. Am J Kidney Dis (2006) 2.05

Racial factors in the incidence and causation of end-stage renal disease (ESRD). Trans Am Soc Artif Intern Organs (1977) 2.03

A genome-wide association study for diabetic nephropathy genes in African Americans. Kidney Int (2010) 1.98

The human apolipoprotein L gene cluster: identification, classification, and sites of distribution. Genomics (2001) 1.77

Aberrant IgA1 glycosylation is inherited in familial and sporadic IgA nephropathy. J Am Soc Nephrol (2008) 1.76

Trypanosome lytic factor, an antimicrobial high-density lipoprotein, ameliorates Leishmania infection. PLoS Pathog (2009) 1.66

The trypanolytic factor of human serum. Nat Rev Microbiol (2006) 1.64

HLA has strongest association with IgA nephropathy in genome-wide analysis. J Am Soc Nephrol (2010) 1.64

HIV-associated nephropathy in African Americans. Kidney Int Suppl (2003) 1.56

Tamm-Horsfall glycoprotein links innate immune cell activation with adaptive immunity via a Toll-like receptor-4-dependent mechanism. J Clin Invest (2005) 1.52

Structural analysis of the 5' flanking region of the beta-globin gene in African sickle cell anemia patients: further evidence for three origins of the sickle cell mutation in Africa. Proc Natl Acad Sci U S A (1988) 1.43

Genetic heterogeneity in Italian families with IgA nephropathy: suggestive linkage for two novel IgA nephropathy loci. Am J Hum Genet (2006) 1.41

HIV and kidney disease in sub-Saharan Africa. Nat Rev Nephrol (2009) 1.40

Genome-wide linkage scan of a large family with IgA nephropathy localizes a novel susceptibility locus to chromosome 2q36. J Am Soc Nephrol (2007) 1.36

Evidence for different susceptibility genes for proteinuria and ESRD in type 2 diabetes. Adv Chronic Kidney Dis (2005) 1.32

Human innate immunity against African trypanosomes. Curr Opin Immunol (2009) 1.29

Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol (2010) 1.28

Are we missing an epidemic of HIV-associated nephropathy? J Am Soc Nephrol (1996) 1.26

Single nucleotide polymorphisms in the phospholipase A2 receptor gene are associated with genetic susceptibility to idiopathic membranous nephropathy. Nephron Clin Pract (2010) 1.23

Genomics. 1000 Genomes Project gives new map of genetic diversity. Science (2010) 1.21

Genetic control of resistance to human malaria. Curr Opin Immunol (2009) 1.20

Mammalian phospholipase A2: phospholipase A2 receptor. Biol Pharm Bull (2004) 1.18

The genetics of IgA nephropathy. Nat Clin Pract Nephrol (2007) 1.16

Association of phospholipase A2 receptor 1 polymorphisms with idiopathic membranous nephropathy in Chinese patients in Taiwan. J Biomed Sci (2010) 1.14

Diabetic CKD/ESRD 2010: a progress report? Semin Dial (2010) 1.01

Cell-wall determinants of the bactericidal action of group IIA phospholipase A2 against Gram-positive bacteria. J Clin Invest (1999) 0.99

Uromodulin-associated kidney disease. Nephron Clin Pract (2010) 0.96

A study of hypertension in the Bahamas. S Afr Med J (1957) 0.89

Susceptibility genes in common complex kidney disease. Curr Opin Nephrol Hypertens (2010) 0.89

Genes that link nephritis to autoantibodies and innate immunity. N Engl J Med (2011) 0.86

Genome-wide association studies in type 1 diabetes, inflammatory bowel disease and other immune-mediated disorders. Semin Immunol (2009) 0.83

Pathogenesis of HIV-associated nephropathy. Semin Nephrol (2008) 0.83

Articles by these authors

Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science (2010) 16.00

Stem cell engraftment at the endosteal niche is specified by the calcium-sensing receptor. Nature (2005) 5.54

TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function. Nat Genet (2005) 5.53

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat Genet (2009) 3.20

The apolipoprotein L1 (APOL1) gene and nondiabetic nephropathy in African Americans. J Am Soc Nephrol (2010) 3.15

Population-based risk assessment of APOL1 on renal disease. J Am Soc Nephrol (2011) 2.81

A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9. Kidney Int (2010) 2.22

Increased burden of cardiovascular disease in carriers of APOL1 genetic variants. Circ Res (2013) 1.82

NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. J Clin Invest (2002) 1.81

Mutational and Biological Analysis of alpha-actinin-4 in focal segmental glomerulosclerosis. J Am Soc Nephrol (2005) 1.80

Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications. Proc Natl Acad Sci U S A (2008) 1.70

Genetic variation in APOL1 associates with younger age at hemodialysis initiation. J Am Soc Nephrol (2011) 1.70

Mice deficient in alpha-actinin-4 have severe glomerular disease. J Clin Invest (2003) 1.69

A SNP streak model for the identification of genetic regions identical-by-descent. Stat Appl Genet Mol Biol (2008) 1.63

Metabolite profiling identifies markers of uremia. J Am Soc Nephrol (2010) 1.63

Deficiency of the calcium-sensing receptor in the kidney causes parathyroid hormone-independent hypocalciuria. J Am Soc Nephrol (2012) 1.59

Alpha-actinin-4 is required for normal podocyte adhesion. J Biol Chem (2006) 1.58

Alpha-actinin-4-mediated FSGS: an inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein. PLoS Biol (2004) 1.58

Disease-associated mutant alpha-actinin-4 reveals a mechanism for regulating its F-actin-binding affinity. Proc Natl Acad Sci U S A (2007) 1.53

The calcium-sensing receptor is required for normal calcium homeostasis independent of parathyroid hormone. J Clin Invest (2003) 1.53

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet (2013) 1.52

APOL1 variants and kidney disease in people of recent African ancestry. Nat Rev Nephrol (2013) 1.43

Using population admixture to help complete maps of the human genome. Nat Genet (2013) 1.35

NPHS2 R229Q functional variant is associated with microalbuminuria in the general population. Kidney Int (2004) 1.35

The calcium-sensing receptor (CaSR) defends against hypercalcemia independently of its regulation of parathyroid hormone secretion. Am J Physiol Endocrinol Metab (2009) 1.32

TRPC6 mutations associated with focal segmental glomerulosclerosis cause constitutive activation of NFAT-dependent transcription. Am J Physiol Cell Physiol (2009) 1.21

Plasma apolipoprotein L1 levels do not correlate with CKD. J Am Soc Nephrol (2013) 1.15

Comparative linkage analysis and visualization of high-density oligonucleotide SNP array data. BMC Genet (2005) 1.14

Calcium-sensing receptor is a physiologic multimodal chemosensor regulating gastric G-cell growth and gastrin secretion. Proc Natl Acad Sci U S A (2010) 1.13

α-actinin-4 is essential for maintaining the spreading, motility and contractility of fibroblasts. PLoS One (2010) 1.11

Rho activation of mDia formins is modulated by an interaction with inverted formin 2 (INF2). Proc Natl Acad Sci U S A (2011) 1.10

Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis. Kidney Int (2012) 1.10

Biophysical properties of normal and diseased renal glomeruli. Am J Physiol Cell Physiol (2010) 1.07

NPHS2 variation in focal and segmental glomerulosclerosis. BMC Nephrol (2008) 1.04

Dynamic viscoelasticity of actin cross-linked with wild-type and disease-causing mutant alpha-actinin-4. Biophys J (2008) 1.02

Cultured podocytes establish a size-selective barrier regulated by specific signaling pathways and demonstrate synchronized barrier assembly in a calcium switch model of junction formation. J Am Soc Nephrol (2005) 0.97

Inverted formin 2 regulates actin dynamics by antagonizing Rho/diaphanous-related formin signaling. J Am Soc Nephrol (2013) 0.97

Patients with ACTN4 mutations demonstrate distinctive features of glomerular injury. J Am Soc Nephrol (2009) 0.97

Cross-link-governed dynamics of biopolymer networks. Phys Rev Lett (2010) 0.95

Crystal structure of the actin-binding domain of alpha-actinin-4 Lys255Glu mutant implicated in focal segmental glomerulosclerosis. J Mol Biol (2007) 0.93

TRPC6 in glomerular health and disease: what we know and what we believe. Semin Cell Dev Biol (2006) 0.93

Improved IBD detection using incomplete haplotype information. BMC Genet (2010) 0.92

The calcium-sensing receptor mediates bone turnover induced by dietary calcium and parathyroid hormone in neonates. J Bone Miner Res (2011) 0.91

Genetic diagnosis in consanguineous families with kidney disease by homozygosity mapping coupled with whole-exome sequencing. Am J Kidney Dis (2011) 0.91

The calcium-sensing receptor complements parathyroid hormone-induced bone turnover in discrete skeletal compartments in mice. Am J Physiol Endocrinol Metab (2012) 0.87

The genetic basis of human glomerular disease. Adv Chronic Kidney Dis (2006) 0.87

Stress-enhanced gelation: a dynamic nonlinearity of elasticity. Phys Rev Lett (2013) 0.87

Health disparities in kidney disease--emerging data from the human genome. N Engl J Med (2013) 0.87

Frequency of rare allelic variation in candidate genes among individuals with low and high urinary calcium excretion. PLoS One (2013) 0.87

Alterations in phosphorus, calcium and PTHrP contribute to defects in dental and dental alveolar bone formation in calcium-sensing receptor-deficient mice. Development (2010) 0.86

Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis. Am J Kidney Dis (2007) 0.86

Calcium receptor stimulates chemotaxis and secretion of MCP-1 in GnRH neurons in vitro: potential impact on reduced GnRH neuron population in CaR-null mice. Am J Physiol Endocrinol Metab (2006) 0.85

Renin-angiotensin axis blockade reduces proteinuria in presymptomatic patients with familial FSGS. Pediatr Nephrol (2007) 0.84

Nonlinear viscoelasticity of actin transiently cross-linked with mutant α-actinin-4. J Mol Biol (2011) 0.83

Gα12 activation in podocytes leads to cumulative changes in glomerular collagen expression, proteinuria and glomerulosclerosis. Lab Invest (2012) 0.81

Kidney disease and African ancestry. Nat Genet (2008) 0.80

A suPAR circulating factor causes kidney disease. Nat Med (2011) 0.80

Surprising results following conditional podocyte inactivation. J Am Soc Nephrol (2009) 0.78

SNF8, a member of the ESCRT-II complex, interacts with TRPC6 and enhances its channel activity. BMC Cell Biol (2012) 0.77

Parathyroid hormone ablation alters erythrocyte parameters that are rescued by calcium-sensing receptor gene deletion. Eur J Haematol (2013) 0.77

Functional genetic variation in aminopeptidase A (ENPEP): lack of clear association with focal and segmental glomerulosclerosis (FSGS). Gene (2007) 0.76

Renin-angiotensin system polymorphisms and risk of hypertension: influence of environmental factors. J Clin Hypertens (Greenwich) (2008) 0.76

VEGF receptors and glomerular function. J Am Soc Nephrol (2010) 0.75

The role of the calcium-sensing receptor in disorders of abnormal calcium handling and cardiovascular disease. Curr Opin Nephrol Hypertens (2014) 0.75

Idiopathic pediatric chronic kidney disease: can genomic technology crack the case? J Clin Invest (2015) 0.75

Pregnancy-associated polyuria in familial renal glycosuria. Am J Kidney Dis (2013) 0.75