Alpha-1 Antitrypsin Deficiency in Iranian Patients with Chronic Obstructive Pulmonary Disease

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Abstract

Background

Alpha-1 antitrypsin deficiency is a genetic disease which affects both lung and liver. This disease is a recognized factor for chronic obstructive pulmonary disease (COPD). However its importance as the cause of COPD in a country such as Iran is unclear.

Objectives

This study was conducted to find out the role of α-1 antitrypsin deficiency as a cause of COPD in Iranian patients.

Materials and Methods

The serum concentration of α-1 antitrypsin was determined and the genotype of α-1 antitrypsin was also evaluated by PCR-RFLP in 130 patients with COPD and 50 normal healthy blood donors.

Results

No α-1 antitrypsin deficient case was found in normal healthy people and COPD patients.

Conclusions

Our results clarify that deficiency of α-antitrypsin is not a major cause of COPD in Iranian patients.

Related collections

Most cited references 15

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Estimated numbers and prevalence of PIS and PIZ alleles of alpha1-antitrypsin deficiency in European countries.

F Serres, I Blanco, Natalie E Bustillo … (2005)

The current study focuses on developing estimates of the numbers of individuals carrying the two most common deficiency alleles, PI*S and PI*Z, for alpha1-antitrypsin deficiency (AT-D) in Europe. Criteria for selection of epidemiological studies were: 1) AT phenotyping performed by isoelectrofocusing or antigen-antibody crossed electrophoresis; 2) rejection of "screening studies"; 3) statistical precision factor score of > or = 5 for Southwest, Western and Northern Europe, > or = 4 for Central Europe, > or = 3 for Eastern Europe; and 4) samples representative of the general population. A total of 75,390 individuals were selected from 21 European countries (one each from Austria, Belgium, Latvia, Hungary, Serbia-Montenegro, Sweden and Switzerland; two each from Denmark, Estonia and Lithuania; three each from Portugal and the UK; four each from Finland, The Netherlands, Norway and Spain; five each from Russia and Germany; six from Poland; eight from Italy; and nine from France). The total AT-D populations of a particular phenotype in the countries selected were: 124,594 ZZ; 560,515 SZ; 16,323,226 MZ; 630,401 SS; and 36,716,819 MS. The largest number of ZZ (5,000-15,000) were in Italy, Spain, Germany, France, the UK, Latvia, Sweden and Denmark, followed by Belgium, Portugal, Serbia-Montenegro, Russia, The Netherlands, Norway and Austria (1,000-2,000), with < 1,000 in each of the remaining countries. A remarkable lack in number of reliable epidemiological studies and marked differences among these European countries and regions within a given country was also found.

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Alpha1-antitrypsin deficiency. 1: epidemiology of alpha1-antitrypsin deficiency.

M. Luisetti, N Seersholm (2004)

The protein and molecular characteristics of variants of the alpha1-antitrypsin (AAT) gene are described, and available data on the genetic epidemiology of AAT deficiency are presented.

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The prevalence of alpha-1 antitrypsin deficiency in Ireland

Tomas Carroll, Catherine A O'Connor, Olwen Floyd … (2011)

Background Alpha-1 antitrypsin deficiency (AATD) results from mutations in the SERPINA1 gene and classically presents with early-onset emphysema and liver disease. The most common mutation presenting with clinical evidence is the Z mutation, while the S mutation is associated with a milder plasma deficiency. AATD is an under-diagnosed condition and the World Health Organisation recommends targeted detection programmes for AATD in patients with chronic obstructive pulmonary disease (COPD), non-responsive asthma, cryptogenic liver disease and first degree relatives of known AATD patients. Methods We present data from the first 3,000 individuals screened following ATS/ERS guidelines as part of the Irish National Targeted Detection Programme (INTDP). We also investigated a DNA collection of 1,100 individuals randomly sampled from the general population. Serum and DNA was collected from both groups and mutations in the SERPINA1 gene detected by phenotyping or genotyping. Results The Irish National Targeted Detection Programme identified 42 ZZ, 44 SZ, 14 SS, 430 MZ, 263 MS, 20 IX and 2 rare mutations. Analysis of 1,100 randomly selected individuals identified 113 MS, 46 MZ, 2 SS and 2 SZ genotypes. Conclusion Our findings demonstrate that AATD in Ireland is more prevalent than previously estimated with Z and S allele frequencies among the highest in the world. Furthermore, our targeted detection programme enriched the population of those carrying the Z but not the S allele, suggesting the Z allele is more important in the pathogenesis of those conditions targeted by the detection programme.

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Author and article information

Journal

Journal ID (nlm-ta): Iran Red Crescent Med J

Journal ID (iso-abbrev): Iran Red Crescent Med J

Journal ID (doi): 10.5812/ircmj

Journal ID (publisher-id): Kowsar

Title: Iranian Red Crescent Medical Journal

Publisher: Kowsar

ISSN (Print): 2074-1804

ISSN (Electronic): 2074-1812

Publication date (Electronic): 05 November 2013

Publication date (Print): November 2013

Volume: 15

Issue: 11

Electronic Location Identifier: e7508

Affiliations

[1 ]Department of Pathology, Transplant Research Center, Shiraz University of Medical Sciences, Shiraz, IR Iran

[2 ]Transplant Research Center, Shiraz University of Medical Sciences, Shiraz, IR Iran

[3 ]Department of Internal Medicine, Shiraz University of Medical Sciences, Shiraz, IR Iran

Author notes

[* ]Corresponding Author: Bita Geramizadeh, Department of Pathology, Transplant Research Center, Shiraz University of Medical Sciences, Shiraz, IR Iran. Tel: +98-7116474331, Fax: +98-7116474331, E-mail: geramib@ 123456sums.ac.ir

Article

DOI: 10.5812/ircmj.7508

PMC ID: 3971777

PubMed ID: 24719685

SO-VID: 2fd502c9-77d0-452f-aa43-c12de36f37f9

License:

This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

History

Date received : 13 July 2012

Date revision received : 27 December 2012

Date accepted : 21 April 2013

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