PMID- 36902496
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230313
IS  - 2077-0383 (Print)
IS  - 2077-0383 (Electronic)
IS  - 2077-0383 (Linking)
VI  - 12
IP  - 5
DP  - 2023 Feb 21
TI  - SERPINA1 and More? A Putative Genetic Contributor to Pulmonary Dysfunction in 
      Alpha-1 Antitrypsin Deficiency.
LID - 10.3390/jcm12051708 [doi]
LID - 1708
AB  - Alpha-1 antitrypsin deficiency (AATD) is a common inherited disorder associated 
      with an increased risk of pulmonary disease. Its clinical presentation, including 
      the nature and severity of organ involvement, is highly variable and 
      unpredictable and is not as strongly linked to genotype and environmental 
      exposure (e.g., smoking history) as might be expected. Significant differences 
      were observed within matched populations of severe AATD patients regarding risk 
      of complications, age at onset, and disease course, including the dynamics of 
      lung function decline. Genetic factors are among the putative modifiers 
      contributing to the clinical variability in AATD, yet their role remains elusive. 
      Here, we review and summarise our current understanding of epigenetic and genetic 
      modifiers of pulmonary dysfunction in subjects with AATD.
FAU - Jezela-Stanek, Aleksandra
AU  - Jezela-Stanek A
AUID- ORCID: 0000-0001-9814-0324
AD  - Department of Genetics and Clinical Immunology, National Institute of 
      Tuberculosis and Lung Diseases, 01-138 Warsaw, Poland.
FAU - Chorostowska-Wynimko, Joanna
AU  - Chorostowska-Wynimko J
AUID- ORCID: 0000-0003-1743-2961
AD  - Department of Genetics and Clinical Immunology, National Institute of 
      Tuberculosis and Lung Diseases, 01-138 Warsaw, Poland.
LA  - eng
GR  - 2018/29/B/NZ5/02346/Polish National Science Centre/
PT  - Journal Article
PT  - Review
DEP - 20230221
PL  - Switzerland
TA  - J Clin Med
JT  - Journal of clinical medicine
JID - 101606588
PMC - PMC10003154
OTO - NOTNLM
OT  - AATD
OT  - SERPINA1 gene
OT  - SNP
OT  - mRNA
OT  - methylation
OT  - micro-RNA
COIS- The authors declare no conflict of interest.
EDAT- 2023/03/12 06:00
MHDA- 2023/03/12 06:01
PMCR- 2023/02/21
CRDT- 2023/03/11 01:20
PHST- 2023/01/23 00:00 [received]
PHST- 2023/02/13 00:00 [revised]
PHST- 2023/02/14 00:00 [accepted]
PHST- 2023/03/11 01:20 [entrez]
PHST- 2023/03/12 06:00 [pubmed]
PHST- 2023/03/12 06:01 [medline]
PHST- 2023/02/21 00:00 [pmc-release]
AID - jcm12051708 [pii]
AID - jcm-12-01708 [pii]
AID - 10.3390/jcm12051708 [doi]
PST - epublish
SO  - J Clin Med. 2023 Feb 21;12(5):1708. doi: 10.3390/jcm12051708.