Genetics of focal segmental glomerulosclerosis and human immunodeficiency virus-associated collapsing glomerulopathy: The Role of MYH9 Genetic Variation

Seminars in Nephrology

Volumn 30, Issue 2, 2010, Pages 111-125

  Winkler, Cheryl A ^a   Nelson, George ^a   Oleksyk, Taras K ^b   Nava, M Berenice ^c   Kopp, Jeffrey B ^c  

^a NATIONAL CANCER INSTITUTE   (United States)

^b UNIVERSITY OF PUERTO RICO   (Puerto Rico)

^c NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

Author keywords

End stage kidney disease; Glomerulosclerosis; Health disparities; Myosin; Podocyte

Indexed keywords

MYOSIN; NEPHRIN; NONMUSCLE MYOSIN HEAVY CHAIN 9; UNCLASSIFIED DRUG;

ACTIN MYOSIN INTERACTION; AFRICAN AMERICAN; ARTICLE; DIABETIC NEPHROPATHY; FOCAL GLOMERULOSCLEROSIS; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; GENOME ANALYSIS; GLOMERULOPATHY; HEALTH CARE DISPARITY; HIGH RISK POPULATION; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS ASSOCIATED COLLAPSING GLOMERULOPATHY; INHERITANCE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PODOCYTE; PRIORITY JOURNAL; RACE DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

GENETIC ASSOCIATION STUDIES; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HIV INFECTIONS; HUMANS; KIDNEY DISEASES; MOLECULAR MOTOR PROTEINS; MYOSIN HEAVY CHAINS;

EID: 77950483818     PISSN: 02709295     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.semnephrol.2010.01.003     Document Type: Article

References (63)

1. Website Glossary Duke Institute of Genome Sciences and Policy, [cited 2009 Sep 20]. http://www.genomestohealth.org/glossary.php.
2. Barisoni L., Schnaper H.W., Kopp J.B. Advances in the biology and genetics of the podocytopathies: implications for diagnosis and therapy. Arch Pathol Lab Med 2009, 133:201-216.
3. Woroniecki R.P., Kopp J.B. Genetics of focal segmental glomerulosclerosis. Pediatr Nephrol 2007, 22:638-644.
4. Bastian H.M., Roseman J.M., McGwin G., et al. Systemic lupus erythematosus in three ethnic groups. XII. Risk factors for lupus nephritis after diagnosis. Lupus 2002, 11:152-160.
5. Burt V.L., Whelton P., Roccella E.J., Brown C., Cutler J.A., Higgins M., et al. Prevalence of hypertension in the US adult population: results from the Third National Health and Nutrition Examination Survey, 1988-1991. Hypertension 1995, 25:305-313.
6. Davey Smith G., Neaton J.D., Wentworth D., Stamler R., Stamler J. Mortality differences between black and white men in the USA: contribution of income and other risk factors among men screened for the MRFIT. Lancet 1998, 351:934-939.
7. Gupta V., et al. Racial differences in thoracic aorta atherosclerosis among ischemic stroke patients. Stroke 2003, 34:408-412.
8. Harper M.A., et al. Racial disparty in pregnancy-related mortality following a live birth outcome. Ann Epidemiol 2004, 14:274-279.
9. Kitiyakara C., Eggers P., Kopp J.B. Twenty-one-year trend in ESRD due to focal segmental glomerulosclerosis in the United States. Am J Kidney Dis 2004, 44:815-825.
10. Klag M.J., Whelton P.K., Randall B.L., Neaton J.D., Brancati F.L., Stamler J. End-stage renal disease in African-American and white men. 16-year MRFIT findings. JAMA 1997, 277:1293-1298.
11. Kopp J.B., Winkler C. HIV-associated nephropathy in African Americans. Kidney Int 2003, 63:S43-S49.
12. Lucas G.M., Lau B., Atta M.G., Fine D.M., Keruly J., Moore R.D. Chronic kidney disease incidence, and progression to end-stage renal disease, in HIV-infected individuals: a tale of two races. J Infect Dis 2008, 197:1548-1557.
13. Signorello L.B., et al. Comparing diabetes prevalence between African Americans and whites of similar socioeconomic status. Am J Public Health 2007, 97:2260-2267.
14. Smith M.W., O'Brien S.J. Mapping by admixture linkage disequilibrium: advances, limitations and guidelines. Nat Rev Genet 2005, 6:623-632.
15. Young B.E., Maynard C., Boyko E.J. Racial differences in diabetic nephropathy, cardiovascular disease, and mortality in a national population of veterans. Diabetes Care 2003, 26:2393-2399.
16. Tucker M.J., Berg C.J., Callaghan W.M., Hsia J. The black-white disparity in pregnancy-related mortality from 5 conditions: differences in prevalence and case-fatality rates. Am J Public Health 2007, 97:247-251.
17. Rao T.K., Filippone E.J., Nicastri A.D., Landesman S.H., Frank E., Chen C.K., et al. Associated focal and segmental glomerulosclerosis in the acquired immunodeficiency syndrome. N Engl J Med 1984, 310:669-673.
18. Kopp J.B., Winkler C. HIV-associated nephropathy in African Americans. Kidney Int Suppl 2003, 83:S43-S49.
19. Tonna S.J., Needham A., Polu K., Uscinski A., Appel G.B., Falk R.J., et al. NPHS2 variation in focal and segmental glomerulosclerosis. BMC Nephrol 2008, 9:13.
20. McKenzie L.M., Hendrickson S.L., Briggs W.A., Dart R.A., Korbet S.M., Mokrzycki M.H., et al. NPHS2 variation in sporadic focal segmental glomerulosclerosis. J Am Soc Nephrol 2007, 18:2987-2995.
21. Chan K.T., Papeta N., Martino J., Zheng Z., Frankel R.Z., Klotman P.E., et al. Accelerated development of collapsing glomerulopathy in mice congenic for the HIVAN1 locus. Kidney Int 2009, 75:366-372.
22. Bock C.H., Schwartz A.G., Ruterbusch J.J., Levin A.M., Neslund-Dudas C., Land S.J., et al. Results from a prostate cancer admixture mapping study in African-American men. Hum Genet 2009, 126:637-642.
23. Freedman M.L., Haiman C.A., Patterson N., McDonald G.J., Tandon A., Waliszewska A., et al. Admixture mapping identifies 8q24 as a prostate cancer risk locus in African-American men. Proc Natl Acad Sci U S A 2006, 103:14068-14073.
24. Jemal A., Siegel R., Ward E., Hao Y., Xu J., Murray T., et al. Cancer statistics, 2008. CA Cancer J Clin 2008, 58:71-96.
25. Reich D.E., Lander E.S. On the allelic spectrum of human disease. Trends Genet 2001, 17:502-510.
26. Manolio T.A., Brooks L.D., Collins F.S. A HapMap harvest of insights into the genetics of common disease. J Clin Invest 2008, 118:1590-1605.
27. Diergaarde B., Bowen D.J., Ludman E.J., Culver J.O., Press N., Burke W. Genetic information: special or not?. Responses from focus groups with members of a health maintenance organization. Am J Med Genet A 2007, 143:564-569.
28. Klein R.J., Zeiss C., Chew E.Y., Tsai J.Y., Sackler R.S., Haynes C., et al. Complement factor H polymorphism in age-related macular degeneration. Science 2005, 308:385-389.
29. Edwards A.O., Ritter R., Abel K.J., Manning A., Panhuysen C., Farrer L.A. Complement factor H polymorphism and age-related macular degeneration. Science 2005, 308:421-424.
30. Haines J.L., Hauser M.A., Schmidt S., Scott W.K., Olson L.M., Gallins P., et al. Complement factor H variant increases the risk of age-related macular degeneration. Science 2005, 308:419-421.
31. Kopp J.B., Smith M.W., Nelson G.W., Johnson R.C., Freedman B.I., Bowden D.W., et al. MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis. Nat Genet 2008, 40:1175-1184.
32. Hindorff L.A., Sethupathy P., Junkins H.A., Ramos E.M., Mehta J.P., Collins F.S., et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A 2009, 106:9362-9367.
33. Kao W.H., Klag M.J., Meoni L.A., Reich D., Berthier-Schaad Y., Li M., et al. MYH9 is associated with nondiabetic end-stage renal disease in African Americans. Nat Genet 2008, 40:1185-1192.
34. Pritchard J.K. Are rare variants responsible for susceptibility to complex diseases?. Am J Hum Genet 2001, 69:124-137.
35. Buerkle C.A., Lexer C. Admixture as the basis for genetic mapping. Trends Ecol Evol 2008, 23:686-694.
36. Cooper R.S., Tayo B., Zhu X. Genome-wide association studies: implications for multiethnic samples. Hum Mol Genet 2008, 17:R151-R155.
37. Divers J., Moossavi S., Langefeld C.D., Freedman B.I. Genetic admixture: a tool to identify diabetic nephropathy genes in African Americans. Ethn Dis 2008, 18:384-388.
38. Zhu X., Tang H., Risch N. Admixture mapping and the role of population structure for localizing disease genes. Adv Genet 2008, 60:547-569.
39. Chakraborty R., Kamboh M.I., Ferrell R.E. 'Unique' alleles in admixed populations: a strategy for determining 'hereditary' population differences of disease frequencies. Ethn Dis 1991, 1:245-256.
40. Smith M.W., Lautenberger J.A., Shin H.D., Chretien J.P., Shrestha S., Gilbert D.A., et al. Markers for mapping by admixture linkage disequilibrium in african american and hispanic populations. Am J Hum Genet 2001, 69:1080-1094.
41. Hoggart C.J., Shriver M.D., Kittles R.A., Clayton D.G., McKeigue P.M. Design and analysis of admixture mapping studies. Am J Hum Genet 2004, 74:965-978.
42. Freedman B.I., Kopp J.B., Winkler C.A., Nelson G.W., Rao D.C., Eckfeldt J.H., et al. Polymorphisms in the nonmuscle myosin heavy chain 9 gene (MYH9) are associated with albuminuria in hypertensive African Americans: the HyperGEN study. Am J Nephrol 2009, 29:626-632.
43. Freedman B.I., Hicks P.J., Bostrom M.A., Comeau M.E., Divers J., Bleyer A.J., et al. Non-muscle myosin heavy chain 9 gene MYH9 associations in African Americans with clinically diagnosed type 2 diabetes mellitus-associated ESRD. Nephrol Dial Transplant 2009, 24:3366-3371.
44. Nelson G, Freedman BI, Bowden DW, Langefeld CD, An P, Johnson RC, et al. Fine mapping of MYH9 localizes the strongest kidney disease associations to the region of introns 13 to 15. Hum Mol Genet, in press.
45. Freedman B.I., Bowden D.W., Rich S.S., Xu J., Wagenknecht L.E., Ziegler J., et al. Genome-wide linkage scans for renal function and albuminuria in type 2 diabetes mellitus: the Diabetes Heart Study. Diabet Med 2008, 25:268-276.
46. Althaus K., Greinacher A. MYH9-related platelet disorders. Semin Thromb Hemost 2009, 35:189-203.
47. Heinzen E.L., Ge D., Cronin K.D., Maia J.M., Shianna K.V., Gabriel W.N., et al. Tissue-specific genetic control of splicing: implications for the study of complex traits. PLoS Biol 2008, 6(12):e1.
48. Frazer K.A., Ballinger D.G., Cox D.R., Hinds D.A., Stuve L.L., Gibbs R.A., et al. A second generation human haplotype map of over 3.1 million SNPs. Nature 2007, 449:851-861.
49. Holsinger K.E., Weir B.S. Genetics in geographically structured populations: defining, estimating and interpreting F(ST). Nat Rev Genet 2009, 10:639-650.
50. Voight B.F., Kudaravalli S., Wen X., Pritchard J.K. A map of recent positive selection in the human genome. PLoS Biol 2006, 4:e72.
51. Nelson G, Freedman BI, Bowden DW, Langefeld CD, An P, Johnson RC, et al. Fine mapping of MYH9 localizes the strongest kidney disease associations to the region of introns 13 to 15. Hum Mol Genet. In press.
52. Akey J.M., Zhang G., Zhang K., Jin L., Shriver M.D. Interrogating a high-density SNP map for signatures of natural selection. Genome Res 2002, 12:1805-1814.
53. Lewontin R.C., Hubby J.L. A molecular approach to the study of genic heterozygosity in natural populations. 2. Amount of variation and degree of heterozygosity in natural populations of Drosophila pseudoobscura. Genetics 1966, 54:595-609.
54. Pinker S. My genome, my self New York Times. [cited 2009 Sept 21]. http://www.nytimes.com/2009/01/11/magazine/11Genome-t.html?pagewanted=6%26_r=3.
55. Kan Y.W., Dozy A.M. Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci U S A 1978, 75:5631-5635.
56. Bustamante C.D., Fledel-Alon A., Williamson S., Nielsen R., Hubisz M.T., Glanowski S., et al. Natural selection on protein-coding genes in the human genome. Nature 2005, 437:1153-1157.
57. Andres A.M., Hubisz M.J., Indap A., Torgerson D.G., Degenhardt J.D., Boyko A.R., et al. Targets of balancing selection in the human genome. Mol Biol Evol 2009, 26:2755-2764.
58. Kriz W. The pathogenesis of 'classic' focal segmental glomerulosclerosis-lessons from rat models. Nephrol Dial Transplant 2003, 18(Suppl 6):vi39-vi44.
59. Fabian J., Naicker S. HIV and kidney disease in sub-Saharan Africa. Nat Rev Nephrol 2009, 5:591-598.
60. Khoury M.J., McBride C.M., Schully S.D., Ioannidis J.P., Feero W.G., Janssens A.C., et al. The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop. Genet Med 2009, 11:559-567.
61. Freedman B.I., Hicks P.J., Bostrom M.A., Cunningham M.E., Liu Y., Divers J., et al. Polymorphisms in the non-muscle myosin heavy chain 9 gene (MYH9) are strongly associated with end-stage renal disease historically attributed to hypertension in African Americans. Kidney Int 2009, 75:736-745.
62. Faul C., Asanuma K., Yanagida-Asanuma E., Kim K., Mundel P. Actin up: regulation of podocyte structure and function by components of the actin cytoskeleton. Trends Cell Biol 2007, 17:428-437.
63. Kopp J.B. Dystroglycan in the molecular diagnosis of the podocyopathies. Clin J Am Soc Nephrol 2009, 4:1747-1753.