PMID- 37143026
OWN - NLM
STAT- MEDLINE
DCOM- 20230511
LR  - 20230511
IS  - 1471-2466 (Electronic)
IS  - 1471-2466 (Linking)
VI  - 23
IP  - 1
DP  - 2023 May 4
TI  - Prevalence of genetic mutations in alpha-1 antitrypsin deficiency (aatd) in 
      patients with chronic obstructive pulmonary disease in Colombia.
PG  - 156
LID - 10.1186/s12890-023-02453-0 [doi]
LID - 156
AB  - BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is an underrecognized genetic 
      disorder associated mainly with pulmonary emphysema and Chronic Obstructive 
      Pulmonary Disease (COPD). All individuals with COPD regardless of age or 
      ethnicity should be tested for AATD, but in Colombia its prevalence in unknown. 
      MAIN OBJECTIVE: To determine the prevalence of the genetic mutations, present in 
      AATD in adult patients with COPD in Colombia, using a genotyping test on cells 
      from the oral mucosa. METHODS: This was a multicentre, observational, 
      cross-sectional study which included adult patients attending seven COPD care 
      centres in Colombia. Demographic data, medical history, including history of 
      exposure to smoking and biomass smoke, most recent spirometry, pharmacological 
      and non-pharmacological treatment received, serum AAT levels, and mutations 
      detected by the genotyping test were recorded for all the recruited patients. For 
      the comparison of variables between the groups with and without mutation, we used 
      the X(2) test for the qualitative variables and the Student's t-test or 
      Mann-Whitney U test according to their distribution. MAIN FINDINGS: We collected 
      a sample of 1,107 patients, the median age was 73.8 years (87.6-79.9). Mutations 
      were documented in 144 patients (13.01%), the majority had the M/S mutation 
      (78.50%), followed by M/Z (9.72%). One patient had a ZZ mutation and two patients 
      had null alleles. In total, 23 patients had mutations associated with serum AAT 
      deficiency (levels below 60 mg/dl). CONCLUSIONS: Genetic mutations were 
      documented in 13.01% of patients with COPD in Colombia and 2.07% were 
      AATD-related, showing that there is a significant number of underdiagnosed 
      patients.
CI  - (c) 2023. The Author(s).
FAU - Ali-Munive, Abraham
AU  - Ali-Munive A
AD  - Fundacion Neumologica Colombiana, Cra. 13 B # 161 - 85, Bogota, Colombia. 
      aali@neumologica.org.
FAU - Leidy, Prada
AU  - Leidy P
AD  - Universidad de La Sabana, Campus del puente del comun, Km 7 Autopista Norte de 
      Bogota, Chia, Chia- Cundinamarca, Colombia.
FAU - Proanos, Nadia Juliana
AU  - Proanos NJ
AD  - Universidad de La Sabana, Campus del puente del comun, Km 7 Autopista Norte de 
      Bogota, Chia, Chia- Cundinamarca, Colombia.
FAU - Pedrozo-Pupo, John
AU  - Pedrozo-Pupo J
AD  - Respire Instituto para el Cuidado Respiratorio (Previcare Ltda), Cra 21 # 18 - 
      27., Santa Marta, Colombia.
FAU - Giraldo, Angela
AU  - Giraldo A
AD  - CardioSalud Eje Cafetero SAS, Cra. 13 # 3B ? 12, Pereira, Colombia.
FAU - Cano, Diana
AU  - Cano D
AD  - Instituto Neumologico del Oriente S.A. Calle, 53 No. 31 - 30. Bucaramanga, 
      Santander, Spain.
FAU - Diaz-Bossa, Claudia
AU  - Diaz-Bossa C
AD  - Neumomed SAS, Calle 19 A No. 44 ? 25, Medellin, Antioquia, Colombia.
FAU - Mosquera, Ricardo
AU  - Mosquera R
AD  - , Clinica Neumologica del Pacifico S.A.S. Calle 5 A No. 42A - 18. Cali, Valle, 
      Barranquilla, Colombia.
FAU - Paul, Hector
AU  - Paul H
AD  - , Promotores de la salud de la costa S.A.S. Cra 54 No 54 ? 01, Barranquilla, 
      Colombia.
FAU - Gonzalez-Garcia, Mauricio
AU  - Gonzalez-Garcia M
AD  - Fundacion Neumologica Colombiana, Cra. 13 B # 161 - 85, Bogota, Colombia.
FAU - Aguirre-Franco, Carlos
AU  - Aguirre-Franco C
AD  - Fundacion Neumologica Colombiana, Cra. 13 B # 161 - 85, Bogota, Colombia.
FAU - Lopez-Campos, Jose Luis
AU  - Lopez-Campos JL
AD  - Unidad Medico-Quirurgica de Enfermedades Respiratorias, Hospital Universitario 
      Virgen del Rocio, Avda de Manuel Siurot s/n, Sevilla, 41013, Espana.
FAU - Casas-Herrera, Alejandro
AU  - Casas-Herrera A
AD  - Fundacion Neumologica Colombiana, Cra. 13 B # 161 - 85, Bogota, Colombia.
LA  - eng
PT  - Journal Article
PT  - Observational Study
DEP - 20230504
PL  - England
TA  - BMC Pulm Med
JT  - BMC pulmonary medicine
JID - 100968563
RN  - 0 (alpha 1-Antitrypsin)
RN  - 0 (SERPINA1 protein, human)
SB  - IM
MH  - Aged
MH  - Humans
MH  - alpha 1-Antitrypsin/genetics
MH  - *alpha 1-Antitrypsin Deficiency/complications/epidemiology/genetics
MH  - Colombia/epidemiology
MH  - Cross-Sectional Studies
MH  - Mutation
MH  - Prevalence
MH  - *Pulmonary Disease, Chronic Obstructive/epidemiology/genetics/diagnosis
MH  - Aged, 80 and over
PMC - PMC10158008
OTO - NOTNLM
OT  - COPD
OT  - Genetic mutation
OT  - Genotyping test
OT  - Pulmonary emphysema
OT  - alpha-1 antitrypsin deficiency
COIS- The sponsor did not participate in the design, data collection, or data analysis 
      of this study. All authors declare that they have no other conflict of interest.
EDAT- 2023/05/05 00:42
MHDA- 2023/05/08 10:17
PMCR- 2023/05/04
CRDT- 2023/05/04 23:40
PHST- 2023/02/14 00:00 [received]
PHST- 2023/04/26 00:00 [accepted]
PHST- 2023/05/08 10:17 [medline]
PHST- 2023/05/05 00:42 [pubmed]
PHST- 2023/05/04 23:40 [entrez]
PHST- 2023/05/04 00:00 [pmc-release]
AID - 10.1186/s12890-023-02453-0 [pii]
AID - 2453 [pii]
AID - 10.1186/s12890-023-02453-0 [doi]
PST - epublish
SO  - BMC Pulm Med. 2023 May 4;23(1):156. doi: 10.1186/s12890-023-02453-0.