Is there a genetic basis for health disparities in human immunodeficiency virus disease?

Mount Sinai Journal of Medicine

Volumn 77, Issue 2, 2010, Pages 149-159

  Winkler, Cheryl ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

Author keywords

Acquired immune deficiency syndrome (AIDS); Chromosome 22 renal susceptibility alleles; Genetic alleles; Genetic predisposition; Health disparities; Heavy chain 9; Human immunodeficiency virus (HIV); Human immunodeficiency virus associated nephropathy (HIVAN); Myosin; Nephropathy; Non muscle (MYH9)

Indexed keywords

CHEMOKINE RECEPTOR CCR5; MYOSIN HEAVY CHAIN;

ACQUIRED IMMUNE DEFICIENCY SYNDROME; ALLELE; ARTICLE; DISEASE COURSE; GENE DELETION; GENE MUTATION; GENETIC VARIABILITY; HEALTH DISPARITY; HEREDITY; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS ASSOCIATED NEUROPATHY; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; KIDNEY DISEASE; PROTEIN EXPRESSION; PROTEIN MOTIF; RISK ASSESSMENT; VIRUS REPLICATION;

AIDS-ASSOCIATED NEPHROPATHY; AIDS-RELATED OPPORTUNISTIC INFECTIONS; DISEASE PROGRESSION; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HEALTH STATUS DISPARITIES; HIV INFECTIONS; HUMANS; MUTATION; PREVALENCE; RECEPTORS, CCR5; RISK ASSESSMENT; RISK FACTORS; UNITED STATES;

EID: 77949837815     PISSN: 00272507     EISSN: 19317581     Source Type: Journal    
DOI: 10.1002/msj.20172     Document Type: Article

References (63)

1. 2008 Report on the Global AIDS Epidemic. Geneva, Switzerland: Joint United Nations Programme on HIV/AIDS; 2008.
2. Centers for Disease Control and Prevention. Cases of HIV infection and AIDS in the United States and dependent areas, 2007. http://www.cdc.gov/hiv/ topics/surveillance/resources/reports/2007report/ default.htm. Accessed January 2010.
3. Sutton MY, Jones RL, Wolitski RJ, et al. A review of the Centers for Disease Control and Prevention's response to the HIV/AIDS crisis among blacks in the United States, 1981-2009. Am J Public Health 2009; 99(suppl 2): S351-S359.
4. O'Brien SJ, Nelson GW. Human genes that limit AIDS. Nat Genet 2004; 36: 565-574.
5. Fellay J, Shianna KV, Ge D, et al. A whole-genome association study of major determinants for host control of HIV-1. Science 2007; 317: 944-947.
6. Fellay J. Host genetics influences on HIV type-1 disease. Antivir Ther 2009; 14: 731-738.
7. Le Clerc S, Limou S, Coulonges C, et al. Genomewide association study of a rapid progression cohort identifies new susceptibility alleles for AIDS (ANRS Genomewide Association Study 03). J Infect Dis 2009; 200: 1194-1201.
8. Limou S, Le Clerc S, Coulonges C, et al. Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02). J Infect Dis 2009; 199: 419-426.
9. Dalmasso C, Carpentier W, Meyer L, et al. Distinct genetic loci control plasma HIV-RNA and cellular HIV-DNA levels in HIV-1 infection: the ANRS Genome Wide Association 01 study. PLoS One 2008; 3: e3907.
10. Rao TK, Filippone EJ, Nicastri AD, et al. Associated focal and segmental glomerulosclerosis in the acquired immunodeficiency syndrome. N Engl J Med 1984; 310: 669-673.
11. Cantor ES, Kimmel PL, Bosch JP. Effect of race on expression of acquired immunodeficiency syndrome-associated nephropathy. Arch Intern Med 1991; 151: 125-128.
12. Praditpornsilpa K, Napathorn S, Yenrudi S, et al. Renal pathology and HIV infection in Thailand. Am J Kidney Dis 1999; 33: 282-286.
13. Winston JA, Burns GC, Klotman PE. The human immunodeficiency virus (HIV) epidemic and HIV-associated nephropathy. Semin Nephrol 1998; 18: 373-377.
14. Kopp JB, Winkler C. HIV-associated nephropathy in African Americans. Kidney Int Suppl 2003; 83: S43-S49.
15. Lopes GS, Marques LP, Rioja LS, et al. Glomerular disease and human immunodeficiency virus infection in Brazil. Am J Nephrol 1992; 12: 281-287.
16. Nochy D, Glotz D, Dosquet P, et al. Renal disease associated with HIV infection: a multicentric study of 60 patients from Paris hospitals. Nephrol Dial Transplant 1993; 8: 11-19.
17. Pakasa M, Mangani N, Dikassa L. Focal and segmental glomerulosclerosis in nephrotic syndrome: a new profile of adult nephrotic syndrome in Zaire. Mod Pathol 1993; 6: 125-128.
18. Fabian J, Naicker S. HIV and kidney disease in sub-Saharan Africa. Nat Rev Nephrol 2009; 5: 591-598.
19. Naicker S, Han TM, Fabian J. HIV/AIDS-dominant player in chronic kidney disease. Ethn Dis 2006; 16: S2-56-60.
20. Satko SG, Sedor JR, Iyengar SK, Freedman BI. Familial clustering of chronic kidney disease. Semin Dial 2007; 20: 229-236.
21. Coop G, Pickrell JK, Novembre J, et al. The role of geography in human adaptation. PLoS Genet 2009; 5: e1000500.
22. Hancock AM, Witonsky DB, Gordon AS, et al. Adaptations to climate in candidate genes for common metabolic disorders. PLoS Genet 2008; 4: e32.
23. Campbell MC, Tishkoff SA. African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping. Annu Rev Genomics Hum Genet 2008; 9: 403-433.
24. Reed FA, Tishkoff SA. African human diversity, origins and migrations. Curr Opin Genet Dev 2006; 16: 597-605.
25. Tishkoff SA, Kidd KK. Implications of biogeography of human populations for 'race' and medicine. Nat Genet 2004; 36: S21-S7.
26. Dean M, Carrington M, Winkler C, et al. Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CKR5 structural gene. Hemophilia Growth and Development Study, Multicenter AIDS Cohort Study, Multicenter Hemophilia Cohort Study, San Francisco City Cohort, ALIVE Study. Science 1996; 273: 1856-1862.
27. Huang Y, Paxton WA, Wolinsky SM, et al. The role of a mutant CCR5 allele in HIV-1 transmission and disease progression. Nat Med 1996; 2: 1240-1243.
28. Liu R, Paxton WA, Choe S, et al. Homozygous defect in HIV-1 coreceptor accounts for resistance of some multiply-exposed individuals to HIV-1 infection. Cell 1996; 86: 367-377.
29. McDermott DH, Beecroft MJ, Kleeberger CA, et al. Chemokine RANTES promoter polymorphism affects risk of both HIV infection and disease progression in the Multicenter AIDS Cohort Study. AIDS 2000; 14: 2671-2678.
30. O'Brien TR, Winkler C, Dean M, et al. HIV-1 infection in a man homozygous for CCR5 delta 32. Lancet 1997; 349: 1219.
31. Stephens JC, Reich DE, Goldstein DB, et al. Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes. Am J Hum Genet 1998; 62: 1507-1515.
32. Martinson JJ, Chapman NH, Rees DC, et al. Global distribution of the CCR5 gene 32-basepair deletion. Nat Genet 1997; 16: 100-103.
33. Galvani AP, Slatkin M. Evaluating plague and smallpox as historical selective pressures for the CCR5-△32 HIV-resistance allele. Proc Natl Acad Sci U S A 2003; 100: 15276-15279.
34. Dean M, Carrington M, Winkler C, et al. Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CKR5 structural gene. Science 1996; 273: 1856-1862.
35. Hendrickson SL, Jacobson LP, Nelson GW, et al. Host genetic influences on highly active antiretroviral therapy efficacy and AIDS-free survival. J Acquir Immune Defic Syndr 2008; 48: 263-271.
36. Ometto L, Zanchetta M, Mainardi M, et al. Co-receptor usage of HIV-1 primary isolates, viral burden, and CCR5 genotype in mother-to-child HIV-1 transmission. AIDS 2000; 14: 1721-1729.
37. Schliekelman P, Garner C, Slatkin M. Natural selection and resistance to HIV. Nature 2001; 411: 545-546.
38. Michon P, Woolley I, Wood EM, et al. Duffy-null promoter heterozygosity reduces DARC expression and abrogates adhesion of the P. vivax ligand required for blood-stage infection. FEBS Lett 2001; 495: 111-114.
39. Hill AV. Malaria resistance genes: a natural selection. Trans R Soc Trop Med Hyg 1992; 86: 225-226.
40. Horuk R, Chitnis CE, Darbonne WC, et al. A receptor for the malarial parasite Plasmodium vivax: the erythrocyte chemokine receptor. Science 1993; 261: 1182-1184.
41. Tournamille C, Colin Y, Cartron JP, Le Van Kim C. Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals. Nat Genet 1995; 10: 224-228.
42. Mayr FB, Spiel AO, Leitner JM, et al. Racial differences in endotoxin-induced tissue factor-triggered coagulation. J Thromb Haemost 2009; 7: 634-640.
43. Mayr FB, Spiel AO, Leitner JM, et al. Duffy antigen modifies the chemokine response in human endotoxemia. Crit Care Med 2008; 36: 159-165.
44. He W, Neil S, Kulkarni H, et al. Duffy antigen receptor for chemokines mediates trans-infection of HIV-1 from red blood cells to target cells and affects HIV-AIDS susceptibility. Cell Host Microbe 2008; 4: 52-62.
45. Lachgar A, Jaureguiberry G, Le Buenac H, et al. Binding of HIV-1 to RBCs involves the Duffy antigen receptors for chemokines (DARC). Biomed Pharmacother 1998; 52: 436-439.
46. McKeigue PM, Carpenter JR, Parra EJ, Shriver MD. Estimation of admixture and detection of linkage in admixed populations by a Bayesian approach: application to African-American populations. Ann Hum Genet 2000; 64: 171-186.
47. Hoggart CJ, Parra EJ, Shriver MD, et al. Control of confounding of genetic associations in stratified populations. Am J Hum Genet 2003; 72: 1492-1504.
48. Tian C, Gregersen PK, Seldin MF. Accounting for ancestry: population substructure and genome-wide association studies. Hum Mol Genet 2008; 17: R143-R50.
49. Walley NM, Julg B, Dickson SP, et al. The Duffy antigen receptor for chemokines null promoter variant does not influence HIV-1 acquisition or disease progression. Cell Host Microbe 2009; 5: 408-410.
50. Winkler CA, An P, Johnson R, et al. Expression of Duffy antigen receptor for chemokines (DARC) has no effect on HIV-1 acquisition or progression to AIDS in African Americans. Cell Host Microbe 2009; 5: 411-413.
51. Julg B, Reddy S, van der Stok M, et al. Lack of Duffy antigen receptor for chemokines: no influence on HIV disease progression in an African treatment-naive population. Cell Host Microbe 2009; 5: 413-415.
52. Horne KC, Li X, Jacobson LP, et al. Duffy antigen polymorphisms do not alter progression of HIV in African Americans in the MACS cohort. Cell Host Microbe 2009; 5: 415-417.
53. Nalls MA, Wilson JG, Patterson NJ, et al. Admixture mapping of white cell count: genetic locus responsible for lower white blood cell count in the Health ABC and Jackson Heart studies. Am J Hum Genet 2008; 82: 81-87.
54. Reich D, Nalls MA, Kao WH, et al. Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene. PLoS Genet 2009; 5: e1000360.
55. Forbes WH, Johnson RD, Consolazio F. Leukopenia in Negro workmen. Am J Med Sci 1941; 201: 407-412.
56. Kiberd BA, Clase CM. Cumulative risk for developing end-stage renal disease in the US population. J Am Soc Nephrol 2002; 13: 1635-1644.
57. Smith MW, Patterson N, Lautenberger JA, et al. A high-density admixture map for disease gene discovery in African Americans. Am J Hum Genet 2004; 74: 1001-1013.
58. Patterson N, Hattangadi N, Lane B, et al. Methods for high-density admixture mapping of disease genes. Am J Hum Genet 2004; 74: 979-1000.
59. Kao WH, Klag MJ, Meoni LA, et al. MYH9 is associated with nondiabetic end-stage renal disease in African Americans. Nat Genet 2008; 40: 1185-1192.
60. Kopp JB, Smith MW, Nelson GW, et al. MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis. Nat Genet 2008; 40: 1175-1184.
61. Freedman BI, Hicks PJ, Bostrom MA, 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.
62. Freedman BI, Hicks PJ, Bostrom MA, 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.
63. Working Group on Mother-To-Child Transmission of HIV. Rates of mother-to-child transmission of HIV-1 in Africa, America, and Europe: results from 13 perinatal studies. J Acquir Immune Defic Syndr Hum Retrovirol 1995; 8: 506-510.