186
Views
90
CrossRef citations to date
0
Altmetric
Original Research

Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update

, , , , , & show all
Pages 561-569 | Published online: 13 Feb 2017

References

  • De SerresFBlancoIRole of alpha-1 antitrypsin in human health and diseaseJ Intern Med2014276431133524661570
  • American Thoracic Society/European Respiratory Society StatementStandards for the diagnosis and management of individuals with alpha1-antitrypsin deficiencyAm J Respir Crit Care Med200316881890014522813
  • CasasFBlancoIMartínezMTIndications for active case searches and intravenous alpha-1 antitrypsin treatment for patients with alpha-1 antitrypsin deficiency chronic pulmonary obstructive disease: an updateArch Bronconeumol201551418519225027067
  • StoneHPyeAStockleyRADisease associations in alpha-1-antitrypsin deficiencyRespir Med2014108233834324176989
  • LeeJHBrantlyMMolecular mechanisms of alpha1-antitrypsin null allelesRespir Med200094Suppl CS7S11
  • SilvaDOliveiraMJGuimarãesMLimaRGomesSSeixasSAlpha-1-antitrypsin (SERPINA1) mutation spectrum: three novel variants and haplotype characterization of rare deficiency alleles identified in PortugalRespir Med201611681827296815
  • FerrarottiICarrollTPOttavianiSIdentification and characterisation of eight novel SERPINA1 Null mutationsOrphanet J Rare Dis2014917225425243
  • LaurellCBErikssonSThe electrophoretic alpha1-globulin pattern of serum in alpha1-antitrypsin deficiencyScand J Clin Lab Invest1963152132140
  • FagerholMKTenfjordOWSerum Pi types in some European, American, Asian and African populationsActa Pathol Microbiol Scand19687246016085681806
  • SvegerTLiver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infantsN Engl J Med197629424131613211083485
  • O’BrienMLBuistNRMurpheyWHNeonatal screening for alpha1-antitrypsin deficiencyJ Pediatr197892610061010307054
  • SilvermanEKMiletichJPPierceJAAlpha-1-antitrypsin deficiency. High prevalence in the St Louis area determined by direct population screeningAm Rev Respir Dis198914049619662679271
  • HutchisonDCAlpha 1-antitrypsin deficiency in Europe: geographical distribution of Pi types S and ZRespir Med19989233673779692092
  • BlancoIFernándezEBustilloEFAlpha-1-antitrypsin PI phenotypes S and Z in Europe: an analysis of the published surveysClin Genet2001601314111531967
  • BlancoIBustilloEFRodríguezMCDistribution of a1-antitrypsin PI S and PI Z frequencies in countries outside Europe: a meta-analysisClin Genet200160643144411846735
  • De SerresFJWorldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveysChest200212251818182912426287
  • LuisettiMSeersholmNAlpha1-antitrypsin deficiency. 1: epidemiology of alpha1-antitrypsin deficiencyThorax200459216416914760160
  • De SerresFJBlancoIFernández-BustilloEHealth implications of alpha1-antitrypsin deficiency in sub-Sahara African countries and their emigrants in Europe and the New WorldGenet Med20057317518415775753
  • BlancoIde SerresFJFernandez-BustilloELaraBMiravitllesMEstimated numbers and prevalence of PI*S and PI*Z alleles of alpha1-antitrypsin deficiency in European countriesEur Respir J2006271778416387939
  • De SerresFJBlancoIFernández-BustilloEEstimated numbers and prevalence of PI*S and PI*Z deficiency alleles of alpha1-antitrypsin deficiency in AsiaEur Respir J20062861091109917005586
  • De SerresFJBlancoIPrevalence of α1-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 reviewTher Adv Respir Dis20126527729522933512
  • BlancoIde SerresFJCárcabaVLaraBFernández-BustilloEAlpha-1 antitrypsin deficiency PI*Z and PI*S gene frequency distribution using on maps of the world by an inverse distance weighting (IDW) multivariate interpolation methodHepat Mon20121210 HCCe743423166537
  • CarrollTPO’ConnorCAFloydOThe prevalence of alpha-1 antitrypsin deficiency in IrelandRespir Res2011129121752289
  • HäggblomJKettunenKKarjalainenJHeliövaaraMJousilahtiPSaarelainenSPrevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency in FinlandEur Clin Respir J201522882926672964
  • Chorostowska-WynimkoJStruniawskiRPopławskaBBorszewska-KornackaMThe incidence of alpha-1-antitrypsin (A1AT) deficiency alleles in population of Central Poland – preliminary results from newborn screeningPneumonol Alergol Pol201280545045322926906
  • LuGYWongDWAn adaptive inverse-distance weighting spatial interpolation techniqueCompute Geosci200834910441055
  • BlancoIFernándezERodríguezMCFernándezAAllelic frequency of the gene alpha-1-antitrypsin in the general population in a county in AsturiasMed Clin (Barc)199913310366370 Spanish
  • LaceBSvegerTKramsACernevskaGKruminaAAge of SERPINA1 gene PI Z mutation: Swedish and Latvian population analysisAnn Hum Genet200872Pt 330030418294358
  • StollerJKSandhausRATurinoGDicksonRRodgersKStrangeCDelay in diagnosis of alpha1-antitrypsin deficiency: a continuing problemChest200512841989199416236846
  • De la RozaCRodríguez-FríasFLaraBVidalRJardíRMiravitllesMResults of a case-detection programme for alpha-1-antitrypsin deficiency in COPD patientsEur Respir J200526461662216204591
  • Alpha 1-antitrypsin deficiency: memorandum from a WHO meetingBull World Health Organ19977553974159447774