Faculty Opinions recommendation of Change in lung function and morbidity from chronic obstructive pulmonary disease in alpha1-antitrypsin MZ heterozygotes: A longitudinal study of the general population.

Author(s):  
Don Sin
Genetika ◽  
2021 ◽  
Vol 53 (2) ◽  
pp. 457-471
Author(s):  
Blazenka Petricevic ◽  
Dragica Pesut

Tobacco smoking is major risk factor for development of chronic obstructive pulmonary disease (COPD), which appears in 15-20% of smokers. Apart from smoking, exposure to polluted air and various noxae, and several genetic factors influence its development as well. The ABO blood type distribution varies among populations in the world, but also within subpopulations. A large number of studies have shown a correlation between blood types and the pathology of various diseases. These markers, used in population genetic research, have mainly shown deviations in the representation of blood groups in different diseases, compared to the general population. The aim of this study was to determine the ABO blood types distribution in patients with COPD compared to the general population, and their possible association with COPD stage, patients? nutritional status and lung function impairment. This observational, prospective study included 150 patients (68.7% men and 31.3% women), average age 64.80 ? 8.38 years, diagnosed with COPD. Data were collected at the Clinical Center of Montenegro in Podgorica and at the Special Hospital for Lung Diseases Brezovik in Niksic. Determination of blood types of the ABO system and Rh factors for all subjects was performed at the Blood Transfusion Center in Podgorica. Apart from patients? tobacco smoking status (duration of smoking and the number of cigarettes smoked per day expressed in pack/years for current smokers and former smokers), we also analyzed their exposure to various other noxae, their body mass index, and lung function in correlation to ABO blood type and Rh factor, and performed statistical analysis. We found a significant difference in the distribution of ABO blood types in patients with COPD compared to the general population. The highest frequency of blood type A was found in patients with COPD. We also found the lowest average values of spirometry parameters in that group, which represented majority of those patients with respiratory insufficiency having the most severe stage of the disease. Combined blood types A, B and were significantly more common in patients with COPD in comparison to blood type O, which is the least represented (23.3%). The least obstructive disturbance of pulmonary ventilation was found in the patients with B type. Respiratory insufficiency showed differences in gender representation, found in 40.4% of women, and in 25.2% of men with terminal phase of COPD. The prevalence of AB, higher than expected, decreases with the severity of the disease.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Jialin Xu ◽  
Diego Madureira de Oliveira ◽  
Matthew A. Trudeau ◽  
Yang Yang ◽  
Jessica J. Y. Chin ◽  
...  

AbstractChronic obstructive pulmonary disease (COPD) is a disorder of accelerated lung aging. Multiple pieces of evidence support that the aging biomarker short telomeres, which can be caused by mutations in telomerase reverse transcriptase (TERT), contribute to COPD pathogenesis. We hypothesized that short telomere risk-associated single nucleotide polymorphisms (SNPs) in TERT, while not able to drive COPD development, nonetheless modify the disease presentation. We set out to test the SNP carrying status in a longitudinal study of smokers with COPD and found that rapid decline of FEV1 in lung function was associated with the minor allele of rs61748181 (adjusted odds ratio 2.49, p = 0.038). Biochemical evaluation of ex vivo engineered human cell models revealed that primary cells expressing the minor allele of rs61748181 had suboptimal telomere length maintenance due to reduced telomerase catalytic activity, despite having comparable cell growth kinetics as WT-TERT expressing cells. This ex vivo observation translated clinically in that shorter telomeres were found in minor allele carriers in a sub-population of COPD patients with non-declining lung function, over the 5-year period of the longitudinal study. Collectively, our data suggest that functional TERT SNPs with mild catalytic defects are nonetheless implicated in the clinical presentation of COPD.


2020 ◽  
Author(s):  
Ponrathi Athilingam ◽  
Andrew Bugajski ◽  
Usha Menon

UNSTRUCTURED Chronic obstructive pulmonary disease (COPD) predominantly affects older adults, and claimed 3 million lives in 2016, making it the third leading cause of death worldwide. Over 35 million Americans aged 40 or older have lung function consistent with diagnosable COPD. COPD and cardiovascular disease (CVD) have a bidirectional relationship, in that one is a risk factor for developing the other. National and international consortiums recommend early screening of adults at risk of COPD, such as those with CVD. Recommended screening strategies include screening tools to assess symptoms, medical history, and handheld spirometry. Handheld spirometry has high diagnostic accuracy and if impaired lung function is indicated, these patients are referred for pulmonary function testing (PFT), the diagnostic gold standard for COPD. However, there is no clinical consensus for pulmonary screening in people with CVD. Current knowledge relating to the prevalence and incidence of CVD in people with COPD and the mechanisms that underlie their coexistence is key in combating the global burden of COPD.


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