Increased prevalence of the alpha-1-antitrypsin (A1AT) deficiency-related S gene in patients infected with human immunodeficiency virus type 1

Journal of Medical Virology

Volumn 86, Issue 1, 2014, Pages 23-29

  Ferreira, Thalita Camêlo da Silva ^a   Sampaio, Erika Pereira ^a   Argañaraz, Gustavo Adolfo ^a   Gondim, Marcos Vinícius Pereira ^a   Shapiro, Leland ^b,c   Argañaraz, Enrique Roberto ^a  

^a UNIVERSITY OF BRASILIA   (Brazil)

^b VETERANS AFFAIRS MEDICAL CENTER   (United States)

^c UNIVERSITY OF COLORADO   (United States)

Author keywords

A1T1; Genotypes frequencies; HIV; Infection

Indexed keywords

ALPHA 1 ANTITRYPSIN; CD4 ANTIGEN;

ADULT; AGED; ALLELE; ALPHA 1 ANTITRYPSIN DEFICIENCY; ARGENTINA; ARTICLE; BRAZIL; CANADA; CD4+ T LYMPHOCYTE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; ELECTROPHORESIS; FEMALE; GENE AMPLIFICATION; GENE FREQUENCY; GENE MUTATION; GENOTYPE; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS 1 INFECTION; HUMAN IMMUNODEFICIENCY VIRUS INFECTED PATIENT; MAJOR CLINICAL STUDY; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; NONHUMAN; PERIPHERAL BLOOD MONONUCLEAR CELL; PREVALENCE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK FACTOR; UNITED STATES; VIRUS LOAD;

HUMAN IMMUNODEFICIENCY VIRUS 1;

A1T1; GENOTYPES FREQUENCIES; HIV; INFECTION;

ADOLESCENT; ADULT; AGED; ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; CHILD; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HIV INFECTIONS; HUMANS; MALE; MIDDLE AGED; RISK FACTORS; YOUNG ADULT;

EID: 84887817441     PISSN: 01466615     EISSN: 10969071     Source Type: Journal    
DOI: 10.1002/jmv.23759     Document Type: Article

References (33)

1. American Thoracic Society and European Respiratory. 2003. American Thoracic Society/European Respiratory Society statement: Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med 168:818-900.
2. Arhel N, Kirchhoff F. 2010. Host proteins involved in HIV infection: New therapeutic targets. Biochim Biophys Acta 1802:313-321.
3. Betts MR, Nason MC, West SM, De Rosa SC, Migueles SA, Abraham J, Lederman MM, Benito JM, Goepfert PA, Connors M, Roederer M, Koup RA. 2006. HIV nonprogressors preferentially maintain highly functional HIV-specific CD8+ T cells. Blood 107:4781-4789.
4. Brantly M, Nukiwa T, Crystal RG. 1988. Molecular basis of alpha-1-antitrypsin deficiency. Am J Med 84:13-31.
5. Brass AL, Dykxhoorn DM, Benita Y, Yan N, Engelman A, Xavier RJ, Lieberman J, Elledge SJ. 2008. Identification of host proteins required for HIV infection through a functional genomic screen. Science 319:921-926.
6. Bryan CL, Beard KS, Pott GB, Rahkola J, Gardner EM, Janoff EN, Shapiro L. 2010. HIV infection is associated with reduced serum alpha-1-antitrypsin concentrations. Clin Invest Med 33:E384-E389.
7. Cao Y, Qin L, Zhang L, Safrit J, Ho DD., 1995. Virologic and immunologic characterization of long-term survivors of human immunodeficiency virus type 1 infection. N Engl J Med 332:201-208.
8. Carl S, Greenough TC, Krumbiegel M, Greenberg M, Skowronski J, Sullivan JL, Kirchhoff F. 2001. Modulation of different human immunodeficiency virus type 1 Nef functions during progression to AIDS. J Virol 75:3657-3665.
9. Cordelier P, Strayer DS. 2003. Mechanisms of alpha1-antitrypsin inhibition of cellular serine proteases and HIV-1 protease that are essential for HIV-1 morphogenesis. Biochim Biophys Acta 1638:197-207.
10. Curiel DT, Chytil A, Courtney M, Crystal RG. 1989. Serum alpha 1-antitrypsin deficiency associated with the common S-type (Glu264--Val) mutation results from intracellular degradation of alpha 1-antitrypsin prior to secretion. J Biol Chem 264:10477-10486.
11. de Serres FJ. 2002. Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: Summary of an analysis of published genetic epidemiologic surveys. Chest 122:1818-1829.
12. de Serres FJ, Blanco I. 2012. Prevalence of alpha1-antitrypsin deficiency alleles PI*S and PI*Z worldwide and effective screening for each of the five phenotypic classes PI*MS, PI*MZ, PI*SS, PI*SZ, and PI*ZZ: A comprehensive review. Ther Adv Respir Dis 6:277-295.
13. de Serres FJ, Blanco I, Fernandez-Bustillo E. 2010. Ethnic differences in alpha-1 antitrypsin deficiency in the United States of America. Ther Adv Respir Dis 4:63-70.
14. Deeks SG, Walker BD. 2007. Human immunodeficiency virus controllers: Mechanisms of durable virus control in the absence of antiretroviral therapy. Immunity 27:406-416.
15. Forssmann WG, The YH, Stoll M, Adermann K, Albrecht U, Tillmann HC, Barlos K, Busmann A, Canales-Mayordomo A, Gimenez-Gallego G, Hirsch J, Jimenez-Barbero J, Meyer-Olson D, Munch J, Perez-Castells J, Standker L, Kirchhoff F, Schmidt RE. 2010. Short-term monotherapy in HIV-infected patients with a virus entry inhibitor against the gp41 fusion peptide. Sci Transl Med 2:63re63.
16. Hubbard RC, Casolaro MA, Mitchell M, Sellers SE, Arabia F, Matthay MA, Crystal RG. 1989. Fate of aerosolized recombinant DNA-produced alpha 1-antitrypsin: Use of the epithelial surface of the lower respiratory tract to administer proteins of therapeutic importance. Proc Natl Acad Sci USA 86:680-684.
17. Lama J, Planelles V. 2007. Host factors influencing susceptibility to HIV infection and AIDS progression. Retrovirology 4:52.
18. Lambotte O, Boufassa F, Madec Y, Nguyen A, Goujard C, Meyer L, Rouzioux C, Venet A, Delfraissy JF. 2005. HIV controllers: A homogeneous group of HIV-1-infected patients with spontaneous control of viral replication. Clin Infect Dis 41:1053-1056.
19. Lefrere JJ, Morand-Joubert L, Mariotti M, Bludau H, Burghoffer B, Petit JC, Roudot-Thoraval F. 1997. Even individuals considered as long-term nonprogressors show biological signs of progression after 10 years of human immunodeficiency virus infection. Blood 90:1133-1140.
20. Lomas DA, Evans DL, Finch JT, Carrell RW. 1992. The mechanism of Z alpha 1-antitrypsin accumulation in the liver. Nature 357:605-607.
21. Lomas DA, Parfrey H. 2004. Alpha1-antitrypsin deficiency. 4: Molecular pathophysiology. Thorax 59:529-535.
22. Long GL, Chandra T, Woo SL, Davie EW, Kurachi K. 1984. Complete sequence of the cDNA for human alpha 1-antitrypsin and the gene for the S variant. Biochemistry 23:4828-4837.
23. Luisetti M, Seersholm N. 2004. Alpha1-antitrypsin deficiency. 1: Epidemiology of alpha1-antitrypsin deficiency. Thorax 59:164-169.
24. Munch J, Standker L, Adermann K, Schulz A, Schindler M, Chinnadurai R, Pohlmann S, Chaipan C, Biet T, Peters T, Meyer B, Wilhelm D, Lu H, Jing W, Jiang S, Forssmann WG, Kirchhoff F. 2007. Discovery and optimization of a natural HIV-1 entry inhibitor targeting the gp41 fusion peptide. Cell 129:263-275.
25. Pantaleo G, Graziosi C, Fauci AS. 1993. The role of lymphoid organs in the pathogenesis of HIV infection. Semin Immunol 5:157-163.
26. Pantaleo G, Menzo S, Vaccarezza M, Graziosi C, Cohen OJ, Demarest JF, Montefiori D, Orenstein JM, Fox C, Schrager LK, et al. 1995. Studies in subjects with long-term nonprogressive human immunodeficiency virus infection. N Engl J Med 332:209-216.
27. Potthoff AV, Munch J, Kirchhoff F, Brockmeyer NH. 2007. HIV infection in a patient with alpha-1 antitrypsin deficiency: A detrimental combination? AIDS 21:2115-2116.
28. Roozendaal R, Mebius RE, Kraal G. 2008. The conduit system of the lymph node. Int Immunol 20:1483-1487.
29. Settin A, El-Bendary M, Abo-Al-Kassem R, El Baz R. 2006. Molecular analysis of A1AT (S and Z) and HFE (C282Y and H63D) gene mutations in Egyptian cases with HCV liver cirrhosis. J Gastrointestin Liver Dis 15:131-135.
30. Shapiro L, Pott GB, Ralston AH. 2001. Alpha-1-antitrypsin inhibits human immunodeficiency virus type 1. FASEB J 15:115-122.
31. Simm M. 2007. The innate cellular responses to HIV-1 invasion: Emerging molecules of ancient defense mechanisms. Arch Immunol Ther Exp (Warsz) 55:131-138.
32. Stoller JK, Aboussouan LS. 2005. Alpha1-antitrypsin deficiency. Lancet 365:2225-2236.
33. Zhou X, Shapiro L, Fellingham G, Willardson BM, Burton GF. 2011. HIV replication in CD4+ T lymphocytes in the presence and absence of follicular dendritic cells: Inhibition of replication mediated by alpha-1-antitrypsin through altered IkappaBalpha ubiquitination. J Immunol 186:3148-3155.