Health implications of α1-antitrypsin deficiency in Sub-Sahara African countries and their emigrants in Europe and the New World

Genetics in Medicine

Volumn 7, Issue 3, 2005, Pages 175-184

  De Serres, Frederick J ^a   Blanco, Ignacio ^b   Fernández Bustillo, Enrique ^c  

^a NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES   (United States)

^b HOSPITAL VALLE DEL NALÓN   (Spain)

^c HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

Author keywords

1 antitrypsin deficiency; Environmental health; Genetic epidemiology; Indigenous populations; PI subtypes; Sub Sahara Africa

Indexed keywords

ALPHA 1 ANTITRYPSIN; PROTEINASE INHIBITOR;

AFRICA; ALLELE; ALPHA 1 ANTITRYPSIN DEFICIENCY; ANGOLA; ARTICLE; BOTSWANA; CAMEROON; CONGO; ENVIRONMENTAL EXPOSURE; ETHNOLOGY; EUROPE; GENE FREQUENCY; GENETIC EPIDEMIOLOGY; HIGH RISK POPULATION; HUMAN; LIVER DISEASE; LUNG DISEASE; MALI; MIGRATION; MOZAMBIQUE; NAMIBIA; NIGERIA; POPULATION RESEARCH; PREVALENCE; SOMALIA; SOUTH AFRICA; STATISTICAL ANALYSIS; COHORT ANALYSIS; DATA BASE; GENETICS; GENOTYPE; PUBLIC HEALTH; RACE; REVIEW;

AFRICA, NORTHERN; ALLELES; ALPHA 1-ANTITRYPSIN DEFICIENCY; COHORT STUDIES; CONTINENTAL POPULATION GROUPS; DATABASES; EMIGRATION AND IMMIGRATION; EUROPE; GENOTYPE; HUMANS; PREVALENCE; PUBLIC HEALTH;

EID: 16444363570     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.GIM.0000156533.06057.89     Document Type: Article

References (73)

1. de Serres FJ. Worldwide Racial and Ethnic Distribution of Alpha-1-antitrypsin Deficiency: Details of an Analayis of Published Genetic Epidemiological Surveys. CHEST 2002;122:1818-1829.
2. Stoller JK, Snider GL, Brantly ML. 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 2003;168:818-855.
3. Hutchison DC. Alpha 1-antitrypsin deficiency in Europe: geographical distribution of Pi types S and Z. Respir Med 1998;92:367-377.
4. Brantly M, Nukiwa T, Crystal RG. Molecular basis of alpha-1-antitrypsin deficiency. Am J Med 1988;84:13-31.
5. Byth BC, Billingsley GD, Cox DW. Physical and genetic mapping of the serpin gene cluster at 14q32.1: allelic association and a unique haplotype associated with alpha 1-antitrypsin deficiency. Am J Hum Genet 1994;55:126-133.
6. Blank CA, Brantly M. Clinical features and molecular characteristics of alpha 1-antitrypsin deficiency. Ann Allergy 1994;72:105-120.
7. Namciu SJ, Friedman RD, Marsden MD, Sarausad LM, Jasoni CL, Fournier REK. Sequence organization and matrix attachment regions of the human serine protease inhibitor gene cluster at 14q32.1. Mammalian Genome 2004;15:162-178.
8. Pierce JA. Antitrypsin and emphysema. Perspective and prospects. Jama 1988;259:2890-2895.
9. WHO. AAT Deficiency. Geneva: World Health Organization, 1996.
10. Nukiwa T, Satoh K, Brantly ML, Ogushi F, Fells GA, Courtney M et al. Identification of a second mutation in the protein-coding sequence of the Z type alpha 1-antitrypsin gene. J Biol Chem 1986;261:15989-15994.
11. Carrell RW, Jeppsson JO, Laurell CB, Brennan SO, Owen MC, Vaughan L et al. Structure and variation of human alpha 1-antitrypsin. Nature 1982;298:329-334.
12. Carrell RW, Lomas DA. Alpha1-antitrypsin deficiency: a model for conformational diseases. N Engl J Med 2002;346:45-53.
13. Brantly ML, Paul LD, Miller BH, Falk RT, Wu M, Crystal RG. Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms. Am Rev Respir Dis 1988;138:327-336.
14. Janus ED, Phillips NT, Carrell RW. Smoking, lung function, and alpha 1-antitrypsin deficiency. Lancet 1985;1:152-154.
15. Tobin MJ, Cook PJ, Hutchison DC. Alpha 1 antitrypsin deficiency: the clinical and physiological features of pulmonary emphysema in subjects homozygous for Pi type Z: a survey by the British Thoracic Association. Br J Dis Chest 1983;77:14-27.
16. Lomas DA, Evans DL, Finch JT, Carrell RW. The mechanism of Z alpha 1-antitrypsin accumulation in the liver. Nature 1992;357:605-607.
17. Mahadeva R, Lomas DA. Genetics and respiratory disease, 2: Alpha 1-antitrypsin deficiency, cirrhosis and emphysema. Thorax 1998;53:501-505.
18. Eden E, Mitchell D, Mehlman B, Khouli H, Nejat M, Grieco MH et al. Atopy, asthma, and emphysema in patients with severe alpha-1-antitrypysin deficiency. Am J Respir Crit Care Med 1997;156:68-74.
19. King MA, Stone JA, Diaz PT, Mueller CF, Becker WJ, Gadek JE. Alpha 1-antitrypsin deficiency: evaluation of bronchiectasis with CT. Radiology 1996;199:137-141.
20. Griffith ME, Lovegrove JU, Gaskin G, Whitehouse DB, Pusey CD. C-amineutrophil cytoplasmic antibody positivity in vasculitis patients is associated with the Z allele of alpha-1-antitrypsin, and P-antineutrophil cytoplasmic antibody positivity with the S allele. Nephrol Dial Transplant 1996;11:438-443.
21. Pianka JD, Ricci P. Cirrhosis associated with heterozygous alpha-1-antitrypsin deficiency preceded by a remote history of panniculitis. Am J Gastroenterol 2000;95:1848.
22. Phelps RG, Shoji T. Update on panniculitis. Mt Sinai J Med 2001;68:262-267.
23. Sun Z, Yang P. Role of imbalance between neutrophil elastase and α1-antitrypsin in cancer development and progression. Lancet Oncol 2004;5:182-190.
24. Michalski JP, McCombs CC, Scopelitis E, Biundo JJ Jr, Medsger TA Jr. Alpha 1-antitrypsin phenotypes, including M subtypes, in pulmonary disease associated with rheumatoid arthritis and systemic sclerosis. Arthritis Rheum 1986;29:586-591.
25. Schievink WI, Katzmann JA, Piepgras DG. Alpha-1-antitrypsin deficiency in spontaneous intracranial arterial dissections. Cerebrovasc Dis 1998;8:42-44.
26. Lolin YI, Ward AM. Alpha-1-antitrypsin phenotypes and associated disease patterns in neurological patients. Acta Neurol Scand 1995;91:394-398.
27. Feld RD. Heterozygosity of alpha 1-antitrypsin: a health risk? Crit Rev Clin Lab Sci 1989;27:461-481.
28. Turino GM, Barker AF, Brandy ML, Cohen AB, Connelly RP, Crystal RG et al. Clinical features of individuals with PP*SZ phenotype of alpha 1-antitrypsin deficiency: α1-Antitrypsin Deficiency Registry Study Group. Am J Respir Crit Care Med 1996;154:1718-1725.
29. Cruz M, Molina JA, Pedrola D, Munoz-Lopez F. Cirrhosis and heterozygous alpha1-antitrypsin deficiency in a 4-year-old girl. Helv Paediatr Acta 1976;30:501-507.
30. Carlson J, Eriksson S. Chronic 'cryptogenic' liver disease and malignant hepatoma in intermediate alpha 1-antitrypsin deficiency identified by a Pi Z-specific monoclonal antibody. Scand J Gastroenterol 1985;20:835-842.
31. Colp C, J Pappas D. Moran, J Lieberman. Variants of alpha-1-antitrypsin in Puerto Rican children with asthma. Chest 1993;103:812-815.
32. Cohen BH, Ball WC Jr, Bias WB, Brashears S, Chase GA, Diamond EL et al. A genetic-epidemiologic study of chronic obstructive pulmonary disease, I: Study design and preliminary observations. Johns Hopkins Med J 1975;137:95-104.
33. Dahl M, Tybjaerg-Hansen A, Lange P, Vestbo J, Nordestgaard BG. Change in lung function and morbidity from chronic obstructive pulmonary disease in α1-antitrypsin MZ heterozygotes: A longitudinal study of the general population. Ann Intern Med 2002;136:270-279.
34. Yoon D, Kueppers F, Genta RM, Klintmalm GB, Khaoustov VI, Yoffe B. Role of alpha-1-antichymotrypsin deficiency in promoting cirrhosis in two siblings with heterozygous alpha-1-antitrypsin deficiency phenotype SZ. Gut 2002;50:730-732.
35. Gourley MF, Gourley GR, Gilbert EF, Odell GB. Alpha 1-antitrypsin deficiency and the PiMS phenotype: case report and literature review. J Pediatr Gastroenterol Nutr 1989;8:116-121.
36. Lieberman J. Heterozygous and homozygous alpha-antitrypsin deficiency in patients with pulmonary emphysema. N Engl J Med 1969;281:279-284.
37. Kueppers F, Fallal R, Larson RK. Obstructive lung disease and alpha-1-antitrypsin deficiency gene heterozygosity. Science 1969;165:899-901.
38. Mittman C. The PiMZ phenotype: is it a significant risk factor for the development of chronic obstructive lung disease? Am Rev Respir Dis 1978;118:649-652.
39. Lieberman J, Silton RM, Agliozzo CM, McMahon J. Hepatocellular carcinoma and intermediate alphal-antitrypsin deficiency (MZ phenotype). Am J Clin Pathol 1975;64:304-310.
40. Pittschieler K. Liver disease and heterozygous alpha-1-antitrypsin deficiency. Acta Paediatr Scand 1991;80:323-327.
41. Pittschieler K. Heterozygotes and liver involvement. Acta Paediatr Suppl 1994;393:21-23.
42. Lieberman J, Winter B, Sastre A. Alpha 1-antitrypsin Pi-types in 965 COPD patients. Chest 1986;89:370-373.
43. Lima LC, Matte U, Leistner S, Bopp AR, Scholl VC, Giugliani R et al. Molecular analysis of the Pi*Z allele in patients with liver disease. Am J Med Genet 2001;104:287-290.
44. Graziadei IW, Joseph JJ, Wiesner RH, Therneau TM, Batts KP, Porayko MK. Increased risk of chronic liver failure in adults with heterozygous alpha1-antitrypsin deficiency. Hepatology 1998;28:1058-1063.
45. Crystal RG, ed. Alpha1-Antitrypsin Deficiency. New York: Marcel Dekker, Inc; 1996.
46. Crystal RG, Brantly ML, Hubbard RC, Curiel DT, States DJ, Holmes MD. The alpha 1-antitrypsin gene and its mutations. Clinical consequences and strategies for therapy. Chest 1989;95:196-208.
47. de Serres FJ. Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed. Environ Health Perspect 2003;111:1851-1854.
48. de Serres FJ, Blanco I, Fernandez-Bustillo E. Genetic epidemiology of alpha-1 antitrypsin deficiency in North America and Australia/New Zealand: Australia, Canada, New Zealand and the United States of America. Clin Genet 2003;64:382-397.
49. de Serres F, I Blanco, EF Bustillo. Genetic epidemiology of Alpha-1 antitrypsin deficiency: France, Italy, Portugal, and Spain. Clin Genet 2003;63:490-509.
50. Dunn DS, Madhoo B, Turnbull R, Jenkins T. Alpha-1-antitrypsin variation in Southern Africa. Hum Hered 1986;36:238-242.
51. Hitzeroth HW, Bissbort S, van den Berg CT, van Niekerk MM, Op't Hof J. Alpha-1-antitrypsin genetic polymorphism in South Africa. S Afr Med J 1987;71:755-759.
52. Walter H, Eberhardt D, Tegeler M, Wiechmann I, Dankerhopfe H, Bhattachaochya SK et al. HP, GC and PI polymorphisms in sixteen central Indian tribal populations. Gene Geogr 1993;7:193-202.
53. Frants RR, Eriksson AW. Reliable classification of six Pi M subtypes by separator isoelectric focusing. Hum Hered 1978;28:201-209.
54. Kellermann G, Walter H. Investigations on the population genetics of the alpha-1-antitrypsin polymorphism. Humangenetik 1970;10:145-150.
55. Awotedu AA, Adelaja AB. Alpha-1-antitrypsin and chronic bronchitis in adult Nigerians. Afr J Med Med Sci 1990;19:291-297.
56. Olusi SO, Ladipo GO, Ojutiku OO. Alpha 1-antitrypsin phenotypes in a Nigerian population. Afr J Med Med Sci 1982;10:113-117.
57. Massi G, Vecchio FM. Alpha-1-antitrypsin phenotypes in a group of newborn infants in Somalia. Hum Genet 1977;38:265-269.
58. Sigsgaard T, Brandslund I, Omland O, Hjort C, Lund ED, Pedersen OF et al. S and Z alpha1-antitrypsin alleles are risk factors for bronchial hyperresponsiveness in young farmers: an example of gene/environment interaction. Eur Respir J 2000;16:50-55.
59. Sandford AJ, Weir TD, Spinelli JJ, Pare PD. Z and S mutations of the alpha1-antitrypsin gene and the risk of chronic obstructive pulmonary disease. Am J Respir Cell Mol Biol 1999;20:287-291.
60. Spitsyn VA, Nafikova AK, Spitsyna NK, Afanas'eva IS. Genetic predisposition to alcoholic toxic cirrhosis. Rus Jf Genet 2001;37:573-580.
61. Endres W. Inherited metabolic diseases affecting the carrier. J Inherit Metab Dis 1997;20:9-20.
62. Seersholm N, Kok-Jensen A, Dirksen A. Decline in FEV1 among patients with severe hereditary alpha 1-antitrypsin deficiency type PiZ. Am J Respir Crit Care Med 1995;152:1922-1925.
63. Hutchison DCS, Cooper D. Alpha-1-antitrypsin deficiency: smoking, decline in lung function and implications for therapeutic trials. Respir Med 2002;96:872-880.
64. Piitulainen E, Eriksson S. Decline in FEV1 related to smoking status in individuals with severe alpha1-antitrypsin deficiency (PiZZ). Eur Respir J 1999;13:247-251.
65. Mayer AS, Stoller JK, Bucher Bartelson B, James Ruttenber A, Sandhaus RA, Newman LS. Occupational exposure risks in individuals with PPZ alpha(1)-antitrypsin deficiency. Am J Respir Crit Care Med 2000;162:553-558.
66. Kelada SN, Eaton DL, Wang SS, Rothman NR, Khoury MJ. The Role of Genetic Polymrphisms in Environmental Health. Environ Health Perspect 2003;111:1055-1064.
67. Goedde HW, Benkmann HG, Flatz G, Bienzle U, Kroeger A. alpha 1-antitrypsin subtypes in the populations of Germany, Ecuador, Afghanistan, Cameroon, and Saudi-Arabia. Zeitschrift fur Morphologie und Anthropologie 1980;70:341-346.
68. Vandeville D, Martin JP, Lebreton JP, Ropartz C. [Pi system in Norman and Amerindian populations]. Rev Fr Transfus 1972;15:213-218.
69. Welch SG, McGregor IA, Williams K. Alpha 1-antitrypsin (pi) phenotypes in a village population from The Gambia, West Africa: Evidence of a new variant occurring at a polymorphic frequency. Hum Genet 1980;53:233-235.
70. DeCroo S, Kamboh MI, Ferrell RE. Population genetics of alpha-1-antitrypsin polymorphism in US whites, US blacks and African blacks. Hum Hered 1991;41:215-221.
71. Olusi SO, Adeyemo AO. Alpha-1-antitrypsin phenotypes, serum immunoglobulins and circulating bacterial antibodies in Nigerians with chronic obstructive pulmonary disease. East Afr Med J 1983;60:506-511.
72. Pascali VL, Ranalletta D, Spedini G. Antitrypsin and Gc polymorphisms in some populations of Congo: an unusual, highly frequent mutant, PIS, in Bateke and Babenga. Ann Hum Biol 1986;13:267-271.
73. Recent trends in smoking prevalence in South Africa: Some evidence from AMPS data. Research for International Tobacco Control Web site. Available at: http://www.idrc.ca/tobacco/sarelease3.pdf. Accessed December 10, 2004.