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Volumn 63, Issue 3, 2005, Pages 133-141

Alpha-1 antitrypsin deficiency in Italy: Regional differences of the PIS and PIZ deficiency alleles

Author keywords

Alpha 1 antitrypsin deficiency; Genetic epidemiology; PI phenotypes; PI subtypes; Population genetics

Indexed keywords

ALPHA 1 ANTITRYPSIN DEFICIENCY; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE CARRIER; GENE FREQUENCY; GENETIC EPIDEMIOLOGY; GENETIC RISK; GEOGRAPHIC DISTRIBUTION; HEREDITY; HETEROZYGOSITY; HIGH RISK PATIENT; HOMOZYGOSITY; HUMAN; ITALY; JAUNDICE; LIVER DISEASE; LUNG EMPHYSEMA; MAJOR CLINICAL STUDY; PHENOTYPE; POPULATION GENETICS; PREVALENCE; RISK ASSESSMENT; STATISTICAL ANALYSIS;

EID: 28244461505     PISSN: 11220643     EISSN: 2465101X     Source Type: Journal    
DOI: 10.4081/monaldi.2005.630     Document Type: Article
Times cited : (15)

References (32)
  • 1
    • 0036433482 scopus 로고    scopus 로고
    • Worldwide Racial and Ethnic Distribution of Alpha-1-antitrypsin Deficiency: Details of an Analayis of Published Genetic Epidemiological Surveys
    • 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.
    • (2002) Chest , vol.122 , pp. 1818-1829
    • de Serres, F.J.1
  • 2
    • 28244500649 scopus 로고    scopus 로고
    • Genetic Epidemiology of Alpha-1 Antitrypsin Deficiency: France, Italy, Portugal, and Spain
    • de Serres FJ, Blanco I, Bustillo EF. Genetic Epidemiology of Alpha-1 Antitrypsin Deficiency: France, Italy, Portugal, and Spain. Clin Genet 2003; 63: 1-20.
    • (2003) Clin. Genet. , vol.63 , pp. 1-20
    • de Serres, F.J.1    Blanco, I.2    Bustillo, E.F.3
  • 3
    • 0023795389 scopus 로고
    • Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms
    • 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.
    • (1988) Am. Rev. Respir. Dis. , vol.138 , pp. 327-336
    • Brantly, M.L.1    Paul, L.D.2    Miller, B.H.3    Falk, R.T.4    Wu, M.5    Crystal, R.G.6
  • 4
    • 0023898432 scopus 로고
    • Molecular basis of alpha-1-antitrypsin deficiency
    • Brantly M, Nukiwa T, Crystal RG. Molecular basis of alpha-1-antitrypsin deficiency. Am J Med 1988; 84: 13-31.
    • (1988) Am. J. Med. , vol.84 , pp. 13-31
    • Brantly, M.1    Nukiwa, T.2    Crystal, R.G.3
  • 5
    • 0023939441 scopus 로고
    • Antitrypsin and emphysema. Perspective and prospects
    • Pierce JA. Antitrypsin and emphysema. Perspective and prospects. JAMA 1988; 259: 2890-2895.
    • (1988) JAMA , vol.259 , pp. 2890-2895
    • Pierce, J.A.1
  • 6
    • 0027989694 scopus 로고
    • Physical and genetic mapping of the serpin gene cluster at 14q32.1: Allelic association and a unique haplotype associated with alpha 1-antitrypsin deficiency
    • 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.
    • (1994) Am. J. Hum. Genet. , vol.55 , pp. 126-133
    • Byth, B.C.1    Billingsley, G.D.2    Cox, D.W.3
  • 7
    • 0028045033 scopus 로고
    • Clinical features and molecular characteristics of alpha 1-antitrypsin deficiency
    • quiz 120-102
    • Blank CA, Brantly M. Clinical features and molecular characteristics of alpha 1-antitrypsin deficiency. Ann Allergy 1994; 72: 105-120; quiz 120-102.
    • (1994) Ann. Allergy , vol.72 , pp. 105-120
    • Blank, C.A.1    Brantly, M.2
  • 8
    • 0031226450 scopus 로고    scopus 로고
    • WHO [alpha 1-Pi deficiency. World Health Organization]
    • WHO [alpha 1-Pi deficiency. World Health Organization]. Pneumologie 1997; 51: 885-918.
    • (1997) Pneumologie , vol.51 , pp. 885-918
  • 9
    • 28244448662 scopus 로고    scopus 로고
    • WHO AAT Deficiency
    • World Health Organization, Geneva
    • WHO AAT Deficiency, World Health Organization, Geneva, 1996.
    • (1996)
  • 10
    • 0021752456 scopus 로고
    • Complete sequence of the cDNA for human alpha 1-antitrypsin and the gene for the S variant
    • Long GL, Chandra T, Woo SL, Davie EW, Kurachi K. Complete sequence of the cDNA for human alpha 1-antitrypsin and the gene for the S variant. Biochemistry 1984; 23: 4828-4837.
    • (1984) Biochemistry , vol.23 , pp. 4828-4837
    • Long, G.L.1    Chandra, T.2    Woo, S.L.3    Davie, E.W.4    Kurachi, K.5
  • 11
    • 0022997617 scopus 로고
    • Identification of a second mutation in the protein-coding sequence of the Z type alpha 1-antitrypsin gene
    • Nukiwa T, Satoh K, Brantly ML, 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.
    • (1986) J. Biol. Chem. , vol.261 , pp. 15989-15994
    • Nukiwa, T.1    Satoh, K.2    Brantly, M.L.3
  • 12
    • 0037011795 scopus 로고    scopus 로고
    • Alpha1-antitrypsin deficiency - A model for conformational diseases
    • Carrell RW, Lomas DA. Alpha1-antitrypsin deficiency - a model for conformational diseases. N Engl J Med 2002; 346: 45-53.
    • (2002) N. Engl. J. Med. , vol.346 , pp. 45-53
    • Carrell, R.W.1    Lomas, D.A.2
  • 13
    • 0033859938 scopus 로고    scopus 로고
    • Molecular mechanisms of alpha1-antitrypsin null alleles
    • Lee JH, Brantly M. Molecular mechanisms of alpha1-antitrypsin null alleles. Respir Med 2000; 94: S7-11.
    • (2000) Respir. Med. , vol.94
    • Lee, J.H.1    Brantly, M.2
  • 15
    • 0036014834 scopus 로고    scopus 로고
    • Polymers of alpha(1)-antitrypsin are chemotactic for human neutrophils: A new paradigm for the pathogenesis of emphysema
    • Parmar JS, Mahadeva R, Reed BJ, et al. Polymers of alpha(1)-antitrypsin are chemotactic for human neutrophils: a new paradigm for the pathogenesis of emphysema. Am J Respir Cell Mol Biol 2002; 26: 723-730.
    • (2002) Am. J. Respir. Cell Mol. Biol. , vol.26 , pp. 723-730
    • Parmar, J.S.1    Mahadeva, R.2    Reed, B.J.3
  • 16
    • 0030873292 scopus 로고    scopus 로고
    • Atopy, asthma, and emphysema in patients with severe alpha-1-antitrypysin deficiency
    • Eden E, Mitchell D, Mehlman B, et al. Atopy, asthma, and emphysema in patients with severe alpha-1-antitrypysin deficiency. Am J Respir Crit Care Med 1997; 156: 68-74.
    • (1997) Am. J. Respir. Crit. Care Med. , vol.156 , pp. 68-74
    • Eden, E.1    Mitchell, D.2    Mehlman, B.3
  • 18
    • 0029925466 scopus 로고    scopus 로고
    • C-antineutrophil 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
    • Griffith ME, Lovegrove JU, Gaskin G, Whitehouse DB, Pusey CD. C-antineutrophil 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.
    • (1996) Nephrol. Dial. Transplant. , vol.11 , pp. 438-443
    • Griffith, M.E.1    Lovegrove, J.U.2    Gaskin, G.3    Whitehouse, D.B.4    Pusey, C.D.5
  • 20
    • 0033944354 scopus 로고    scopus 로고
    • Cirrhosis associated with heterozygous alpha-1-antitrypsin deficiency preceded by a remote history of panniculitis
    • 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.
    • (2000) Am. J. Gastroenterol. , vol.95 , pp. 1848
    • Pianka, J.D.1    Ricci, P.2
  • 21
    • 0022528916 scopus 로고
    • Alpha 1-antitrypsin phenotypes, including M subtypes, in pulmonary disease associated with rheumatoid arthritis and systemic sclerosis
    • 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.
    • (1986) Arthritis Rheum. , vol.29 , pp. 586-591
    • Michalski, J.P.1    McCombs, C.C.2    Scopelitis, E.3    Biundo Jr., J.J.4    Medsger Jr., T.A.5
  • 22
    • 0031964132 scopus 로고    scopus 로고
    • Alpha-1-antitrypsin deficiency in spontaneous intracranial arterial dissections
    • Schievink WI, Katzmann JA, Piepgras DG. Alpha-1-antitrypsin deficiency in spontaneous intracranial arterial dissections. Cerebrovasc Dis 1998; 8: 42-44.
    • (1998) Cerebrovasc. Dis. , vol.8 , pp. 42-44
    • Schievink, W.I.1    Katzmann, J.A.2    Piepgras, D.G.3
  • 23
    • 0028901431 scopus 로고
    • Alpha-1-antitrypsin phenotypes and associated disease patterns in neurological patients
    • Lolin YI, Ward AM. Alpha-1-antitrypsin phenotypes and associated disease patterns in neurological patients. Acta Neurol Scand 1995; 91: 394-398.
    • (1995) Acta Neurol. Scand. , vol.91 , pp. 394-398
    • Lolin, Y.I.1    Ward, A.M.2
  • 24
    • 0242525259 scopus 로고    scopus 로고
    • Genetic Epidemiology of Alpha-1 Antitrypsin Deficiency in North America and Australia/New Zealand: Australia, Canada, New Zealand and the United States of America
    • 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.
    • (2003) Clin. Genet. , vol.64 , pp. 382-397
    • de Serres, F.J.1    Blanco, I.2    Fernandez-Bustillo, E.3
  • 25
    • 1242343871 scopus 로고    scopus 로고
    • Epidemiology of alpha (1)-antitrypsin deficiency
    • Luisetti M, Seersholm N. Epidemiology of alpha (1)-antitrypsin deficiency. Thorax 2004; 59: 164-169.
    • (2004) Thorax , vol.59 , pp. 164-169
    • Luisetti, M.1    Seersholm, N.2
  • 26
    • 0025309340 scopus 로고
    • The epidemiology of alpha 1-antitrypsin deficiency
    • Hutchison DC. The epidemiology of alpha 1-antitrypsin deficiency. Lung 1990; 168: 535-542.
    • (1990) Lung , vol.168 , pp. 535-542
    • Hutchison, D.C.1
  • 27
    • 28244467562 scopus 로고    scopus 로고
    • Italy before the Romans
    • (January)
    • Zwingle E. Italy before the Romans, National Geographic (January 2005), pp. 52-77.
    • (2005) National Geographic , pp. 52-77
    • Zwingle, E.1
  • 28
    • 0022409533 scopus 로고
    • Regional Differences in the Idiopathic Hemochromatosis Gene Frequency in Sweden
    • Lindmark B, Eriksson S. Regional Differences in the Idiopathic Hemochromatosis Gene Frequency in Sweden. Acta Med Scand 1985; 218: 299-304.
    • (1985) Acta Med. Scand. , vol.218 , pp. 299-304
    • Lindmark, B.1    Eriksson, S.2
  • 29
    • 0141706635 scopus 로고    scopus 로고
    • American Thoracic Society/European Respiratory Society Statement: Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency
    • 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.
    • (2003) Am. J. Respir. Crit. Care Med. , vol.168 , pp. 818-855
    • Stoller, J.K.1    Snider, G.L.2    Brantly, M.L.3
  • 31
    • 0033624634 scopus 로고    scopus 로고
    • S and Z alpha1-antitrypsin alleles are risk factors for bronchial hyperresponsiveness in young farmers: An example of gene/environment interaction
    • Sigsgaard T, Brandslund I, Omland O, 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.
    • (2000) Eur. Respir. J. , vol.16 , pp. 50-55
    • Sigsgaard, T.1    Brandslund, I.2    Omland, O.3
  • 32
    • 20144377618 scopus 로고    scopus 로고
    • Prevalence and phenotype of subjects carrying rare variants in the Italian Registry for alpha-1-antitrypsin deficiency
    • Ferrarotti I, Baccheschi J, Zorzetto M, et al. Prevalence and phenotype of subjects carrying rare variants in the Italian Registry for alpha-1-antitrypsin deficiency. J Med Genetic 2005; 42: 377-382.
    • (2005) J. Med. Genetic , vol.42 , pp. 377-382
    • Ferrarotti, I.1    Baccheschi, J.2    Zorzetto, M.3


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