Advanced

Screening for alpha1-antitrypsin deficiency in Lithuanian patients with COPD

Sitkauskiene, Brigita; Serapinas, Danielius; Blanco, Ignacio; Fernandez-Bustilto, Enrique; Janciauskiene, Sabina LU and Sakalauskas, Raimundas (2008) In Respiratory Medicine 102(11). p.1654-1658
Abstract
Background: Alphal-antitrypsin (AAT) deficiency is an under-diagnosed condition in patients with chronic obstructive pulmonary disease (COPD). The objective of the present screening was to estimate the AAT gene frequency and prevalence and to identify AAT deficiency cases in a large cohort of Lithuanian patients with COPD. Methods: A nationwide program of AAT deficiency was conducted in 1167 COPD patients, defined according to the GOLD criteria. Patients were collected from outpatient clinics in five different Lithuanian regions (Kaunas, Vilnius, Siauliai, Klaipeda and Alytus). AAT serum concentrations were measured by nephelometry; PI-phenotypes characterized by isoelectric-focusing. Results: Mean age and FEV1 were 62.0 (10.3) and 54.7%... (More)
Background: Alphal-antitrypsin (AAT) deficiency is an under-diagnosed condition in patients with chronic obstructive pulmonary disease (COPD). The objective of the present screening was to estimate the AAT gene frequency and prevalence and to identify AAT deficiency cases in a large cohort of Lithuanian patients with COPD. Methods: A nationwide program of AAT deficiency was conducted in 1167 COPD patients, defined according to the GOLD criteria. Patients were collected from outpatient clinics in five different Lithuanian regions (Kaunas, Vilnius, Siauliai, Klaipeda and Alytus). AAT serum concentrations were measured by nephelometry; PI-phenotypes characterized by isoelectric-focusing. Results: Mean age and FEV1 were 62.0 (10.3) and 54.7% (10.9), respectively. Ninety-one AAT deficiency genotypes (40 MZ, 39 MS, 1 SS, 3 SZ and 8 ZZ) were identified. Catculated PI*S and PI*Z frequencies, expressed in per 1000, were 18.8 (95% CI: 13.9-25) and 25.3 (95% CI: 19.4-32.7), respectively. The calculated AAT gene prevalence (Hardy-Weinberg principle) was: 1/1.09 for MM, 1/28 for MS, 1/2814 for SS, 1/20 for MZ, 1/1049 for SZ and 1/1565 for ZZ. Calculated Odds ratio (OR) for PI*Z in COPD vs. Lithuanian healthy people was of 1.87 (P = 0.004). Conclusion: The OR for each genotypic class demonstrated a significant increase of MZ, SZ and ZZ genotypes in COPD patients. The results of the present study, with a significant number of ZZ individuals detected, support the general concept of targeted screening for AAT deficiency in countries like Lithuania, with a large population of COPD patients and tow awareness among care-givers about this genetic condition. (C) 2008 Elsevier Ltd. All rights reserved. (Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Chronic obstructive pulmonary disease, Population studies, Screening, Alpha1-antitrypsin deficiency
in
Respiratory Medicine
volume
102
issue
11
pages
1654 - 1658
publisher
Elsevier
external identifiers
  • wos:000261506700022
  • scopus:55549147885
ISSN
1532-3064
DOI
10.1016/j.rmed.2008.07.003
language
English
LU publication?
yes
id
2f0311e2-65aa-4865-a16a-1024f7ef98aa (old id 1304384)
date added to LUP
2009-03-23 14:59:29
date last changed
2017-07-02 03:55:03
@article{2f0311e2-65aa-4865-a16a-1024f7ef98aa,
  abstract     = {Background: Alphal-antitrypsin (AAT) deficiency is an under-diagnosed condition in patients with chronic obstructive pulmonary disease (COPD). The objective of the present screening was to estimate the AAT gene frequency and prevalence and to identify AAT deficiency cases in a large cohort of Lithuanian patients with COPD. Methods: A nationwide program of AAT deficiency was conducted in 1167 COPD patients, defined according to the GOLD criteria. Patients were collected from outpatient clinics in five different Lithuanian regions (Kaunas, Vilnius, Siauliai, Klaipeda and Alytus). AAT serum concentrations were measured by nephelometry; PI-phenotypes characterized by isoelectric-focusing. Results: Mean age and FEV1 were 62.0 (10.3) and 54.7% (10.9), respectively. Ninety-one AAT deficiency genotypes (40 MZ, 39 MS, 1 SS, 3 SZ and 8 ZZ) were identified. Catculated PI*S and PI*Z frequencies, expressed in per 1000, were 18.8 (95% CI: 13.9-25) and 25.3 (95% CI: 19.4-32.7), respectively. The calculated AAT gene prevalence (Hardy-Weinberg principle) was: 1/1.09 for MM, 1/28 for MS, 1/2814 for SS, 1/20 for MZ, 1/1049 for SZ and 1/1565 for ZZ. Calculated Odds ratio (OR) for PI*Z in COPD vs. Lithuanian healthy people was of 1.87 (P = 0.004). Conclusion: The OR for each genotypic class demonstrated a significant increase of MZ, SZ and ZZ genotypes in COPD patients. The results of the present study, with a significant number of ZZ individuals detected, support the general concept of targeted screening for AAT deficiency in countries like Lithuania, with a large population of COPD patients and tow awareness among care-givers about this genetic condition. (C) 2008 Elsevier Ltd. All rights reserved.},
  author       = {Sitkauskiene, Brigita and Serapinas, Danielius and Blanco, Ignacio and Fernandez-Bustilto, Enrique and Janciauskiene, Sabina and Sakalauskas, Raimundas},
  issn         = {1532-3064},
  keyword      = {Chronic obstructive pulmonary disease,Population studies,Screening,Alpha1-antitrypsin deficiency},
  language     = {eng},
  number       = {11},
  pages        = {1654--1658},
  publisher    = {Elsevier},
  series       = {Respiratory Medicine},
  title        = {Screening for alpha1-antitrypsin deficiency in Lithuanian patients with COPD},
  url          = {http://dx.doi.org/10.1016/j.rmed.2008.07.003},
  volume       = {102},
  year         = {2008},
}