Respiratory Medicine
Volume 104, Issue 7 , Pages 1069-1072 , July 2010

Alpha-1-antitrypsin deficiency in the Cape Verde islands (Northwest Africa): High prevalence in a sub-Saharan population

Received 13 November 2009 ,Accepted 15 February 2010.

References 

  1. Neto L, Júnior C, Cardoso G, Ferreira A, Marino G, Monteiro N. Pulmonary aspects in alpha-1-antitrypsin deficiency. Rev Port Pneumol. 2004;10(2):145–154
  2. Needham M, Stockley RA. Alpha-1-antitrypsin deficiency: clinical manifestations and natural history. Thorax. 2004;59:441–445
  3. Blyth B, Billingsley GD, Cox DW. Physical and genetic mapping of the serpine 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
  4. Carrell RW, Jeppsson JO, Laurell CB, et al. Structure and variation of human alpha 1-antitrypsin. Nature. 1982;298:329–334
  5. Curiel DT, Holmes MD, Okayama H, et al. Molecular basis of the liver and lung disease associated with the α1-antitrypsin deficiency allele Mmalton. J Biol Chem. 1989;264(23):13938–13945
  6. Laurell CB, Eriksson S. The electrophoretic α-1-globuli pattern of serum in α-1-antitrypsin deficiency. Scand J Clin Lab Invest. 1963;15:132–140
  7. de Serres FJ, Blanco I, Bustillo EF. Estimating the risk for alpha-1 antitrypsin deficiency among COPD patients: evidence supporting targeted screening. J COPD COPD. 2006;3(3):133–139[Erratum in COPD 2006 Dec 3(4) 245]
  8. 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
  9. Stoller JK, Aboussouan LS. Alpha-1-antitrypsin deficiency. Lancet. 2005;365:2225–2236
  10. Blanco I, de Serres FJ, Fernandez-Bustillo E, Lara B, Miravitlles M. Estimated numbers and prevalence of PI*S and PI*Z alleles of alfa-1-antitrypsin deficiency in European countries. Eur Respir J. 2006;27:77–84
  11. Turino G, Barker AF, Brantly ML, et al. Clinical features of individuals with PI*SZ phenotype of alpha-1-antitrypsin deficiency: the Alpha-1-Antitrypsin Deficiency Registry Study Group. Am J Respir Crit Care Med. 1996;154:1718–1725
  12. de Serres FJ, Blanco I, Bustillo EF, Pi S, Pi Z. Alpha-1 antitrypsin deficiency worldwide. A review of existing genetic epidemiological data. Monaldi Arch Chest Dis. 2007;67(4):184–208
  13. Spínola C, Bruges-Armas J, Pereira C, Brehm A, Spínola H. Alpha-1-antitrypsin deficiency in Madeira (Portugal): the highest prevalence in the world. Respir Med. 2009;103:1498–1502
  14. Carreira A. In: Migrações nas Ilhas de Cape Verde. 2nd ed.. Lisboa: Instituto Caboverdeano do Livro; 1983;
  15. Russell-Wood AJ. The Portuguese empire, 1415 ± 1808. A world on the move. Baltimore, London: Johns Hopkins Univ. Press; 1998;
  16. Gonçalves R, Rosa A, Freitas A, Fernandez A, Kirisild T, Villein R, et al. Y-chromosome lineages in Cape Verde Islands witness the diverse geographic origin of its first male settlers. Hum Genet. 2003;113:467
  17. Brehm A, Pereira L, Bandelt HJ, Prata MJ, Amorim A. Mitochondrial portrait of the Cape Verde archipelago: the Senegambian outpost of Atlantic slave trade. Ann Hum Genet. 2002;66:49
  18. Fernandes AT, Velosa R, Jesus J, Carracedo A, Brehm A. Genetic differentiation of the Cape Verde archipelago population analysed by STR polymorphisms. Ann Hum Genet. 2003;67:340
  19. Spínola H, Brehm A, Williams F, Jesus J, Middleton D. Distribution of HLA alleles in Portugal and Cape Verde. Relationships with the slave trade route. Ann Hum Genet. 2002;66:285
  20. Spínola H, Bruges-Armas J, Middleton D, Brehm A. HLA polymorphisms in Cape Verde and Guiné-Bissau inferred from sequence-based typing. Hum Immunol. 2005;66:1082–1092
  21. Stoller JS, Brantly GL, Fallat ML, et al. Genetic testing for alpha-1 antitrypsin deficiency–ethical, legal, psychologic, social, and economic issues. Am J Respir Crit Care Med. 2003;168(7):874–900
  22. Tazelaar JP, Friedman KJ, Kline RS, Guthrie ML, Farber RA. Detection of alpha-1-antitrypsin Z and S mutations by polymerase chain reaction-mediated site-directed mutagenesis. Clin Chem. 1992;38(8):1486–1488
  23. Wolfe R, Cumming G. Communicating the uncertainty in research findings: confidence intervals. J Sci Med Sport. 2004;7:138–143
  24. Excoffier L, Laval G, Schneider S. Arlequin ver. 3.0: an integrated software package for population genetics data analysis. Evol Bioinform Online. 2005;1:47–50
  25. Makni S, Zitouni M, Ayed K, et al. Absence of the alpha-1-antitrypsin PI*Z Allele in Tunisia substantiates the particular genetic structure of African populations. Am J Hum Biol. 1997;9:223–224

PII: S0954-6111(10)00082-X

doi: 10.1016/j.rmed.2010.02.012

Respiratory Medicine
Volume 104, Issue 7 , Pages 1069-1072 , July 2010

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