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28/09/2023
www.brn.cat
BRN Trustees:
Investigando en EPOC: desde la
genética a la clínica
Chairs: Dra. Salud Santos (H. Bellvitge), Dr. Sergi Pascual (H. del Mar)
Speakers: Dra. Rosa Faner (H. Clínic), Dra. Sara Martí (H. Bellvitge), Dr. Dr. César Jessé Enríquez
(H. del Mar), Dra. Marina Galdeano (H. Germans Trias i Pujol), Dr. César Maquilón (Clínica Dávila,
Santiago de Chile)
With the sponsorship of:
PARTE I:
Condicionantes genéticos en el desarrollo de EPOC:
"Young COPD"
Mª Rosa Faner Canet, PhD
Universitat de Barcelona,
FCRB-IDIBAPS, CIBER.
rfaner@ub.edu
BRN Trustees:
Investigando en EPOC: desde la genética a la clínica
With the sponsorship of:
28/09/2023
www.brn.cat
Outline
1. The many faces of COPD
2. Yong COPD
3. Conclusions
Ian A Yang et al. Lancet Resp Med 2022
COPD smoking and beyond
• One-tenth of the population
• 3rd leading cause of mortality
• FEV1/FVC < 0.7
• Mean age @diagnostic 65 yrs.
• Clinical heterogeneity
• 20-40% of COPD patients worldwide are never
smokers.
The many faces of COPD….
Smoking, infections, genetics, environment
Mahmoud O et al. ERJ 2023
50% of COPD without evidence of accelerated decline
History of early childhood LRTIs/pneumonia
• 8/14 reduction FEV1 values,
• 6/12 reductions in FVC
Restrictive spirometry pattern.
Andrew J Collaro, et al. Lancet Child Adolesc Health 2023
Allinson JP et al. Lancet 2023
And … earlier all cause mortality
Agusti, Faner. Lancet Respir Med. 2019
Schiffers C, Respirology 2023
Beckman H, AJRCCM 2023
Agusti, Faner. Lancet Respir Med. 2017
COPD
Mortality
Multimorbidity
Wang G, Mélen E AJRCCM 2022
Agusti, Faner. Lancet Respir Med. 2017
Wang G et al. AJRCCM 2023
Schiffers C, Respirology 2023
Beckman H, AJRCCM 2023
The way(s) to low peak lung function….
• Chronic respiratory symptoms
• No airflow limitation
Pre-COPD
• <50 years old
• >10 packs/year
• FEV1/FVC<LLN or Lung
abnormality or Accelerated FEV1
decline
Early COPD
Young COPD
• <50 years old
• FEV1/FVC<0.7
Martinez et al. AJRCCM 2018 ,
Han M et al. AJRCCM 2021,
Martinez et al. AJRCCM 2022
• FEV1/FVC<0.7
COPD
Towards an earlier diagnosis?
Agusti, Faner. Lancet Respir Med. 2017
Wang G et al. AJRCCM 2023
Schiffers C, Respirology 2023
Beckman H, AJRCCM 2023
Olvera et al. AJRCCM. 2023
Odds ratio (95% C.I. and p-value) for FEV1 < LLN
Abnormal peak lung function…. Towards COPD?
Biological domain
Conception Time (age) Death
Low birthweight Pollution
Exercise
Maternal smoking
Vaccinations
Infections
Smoking
Allergens Socioeconomic status
Diet
Lifestyle
Alcohol
Breastfeeding Microbiome
Sunlight
Occupational exposure
Prematurity
Accidents
Exposome
Genome
Health and disease
Phenotypes and treatable traits
Health and disease
Phenotypes and treatable traits
Health and disease
Phenotypes and treatable traits
Endotypes and biomarkers
Epigenetics
Immune
response
Development and
repair
Endotypes and biomarkers
Epigenetics
Immune
response
Repair and ageing
Endotypes and biomarkers
Epigenetics
Immune
response
Repair and ageing
GETomics: COPD as Gene x Enviroment and Time disease
Clinical domain
Agusti, Faner, Lancet Respiratory Medicine 2022
Outline
1. The many faces of COPD
2. Yong COPD?
3. Conclusions
• Chronic respiratory symptoms
• No airflow limitation
Pre-COPD
• <50 years old
• >10 packs/year
• FEV1/FVC<LLN or Lung
abnormality or Accelerated FEV1
decline
Early COPD
Young COPD
• <50 years old
• FEV1/FVC<0.7
Martinez et al. AJRCCM 2018 ,
Han M et al. AJRCCM 2021,
Martinez et al. AJRCCM 2022
• FEV1/FVC<0.7
COPD
Towards an earlier diagnosis?
35-50 years
FEV1/FVC<0.7 >10 PY
Young COPD
FEV1/FVC %
FEV1 (% ref.)
DLCO (% ref.)
Cosio B, Faner R et al. ERJ Open
Demographics
Family history
Previous history
Symptoms
<0.05 - >0.01
<0.01 - >0.001
<0.001 - >0-0001
<10E-4 - >10E-6
<10E-6 - >10E-20
<10E-20
P values
Lung function
Imaging
Blood markers
Cosio B, Faner R et al. ERJ Open
Young COPD
35-50 years
FEV1/FVC<0.7 >10 PY
Ageing biomarkers: young vs old COPD
Carlos López-Otín. Cell 2023
35-50 years
FEV1/FVC<0.7 >10 PY
Casas-Recasens et al. Frontiers Med 2021
Ageing biomarkers: young vs old COPD
Casas-Recasens et al. Frontiers Med 2021
Ageing biomarkers: young vs old COPD
82 GWAS loci for COPD
35 New
Sakornsakolpat P et al. 2019
SNPs associated to
lung development
Supporting a role of early life events in the risk of COPD
Genetics of old COPD
Eur Respir J 2022; 60: 2101954
Polygenic risk score and age of diagnosis of COPD
Nissen G. et al. NEJM evidence 2023
• COPD PRS
• lung function at 5 years
Pulakka A et al. Eur Respir J 2023
Pre-term birth and obstructive disease Cohort of Pre-term birth children
The genetics view
Epigenetics of Pre-COPD, Young COPD?
Age acceleration in cases vs. controls (40.2 vs. 38.7), p=0.03
Martino D. et al. AJRCCM 2023
Controls
Cases
THAS
Outline
1. The many faces of COPD
2. Yong COPD?
3. Conclusions
Conclusions
• A life course perspective is need for COPD.
• Young and old COPD from the same “setting” share phenotypic characteristics.
• COPD biomarkers are present in young adults with abnormal peak lung function.
• Accelerated aging has a role in the severity of the disease, independent of the
patient’s age.
• The genetics of COPD are related to its early onset.
Thank you for your attention
FUNDING
Grup: Inflamació i reparació a les malalties respiratòries
Martinu T. et al, Annu. Rev. Med. 2023. 74:427–41
CC-16 (CCSP) and lung disease
• Secretory protein mainly expressed by airways club cells
• Role regulating pulmonary inflammation

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01_Faner_Condicionantes genéticos en el desarrollo de EPOC: "Young COPD"

  • 1. 28/09/2023 www.brn.cat BRN Trustees: Investigando en EPOC: desde la genética a la clínica Chairs: Dra. Salud Santos (H. Bellvitge), Dr. Sergi Pascual (H. del Mar) Speakers: Dra. Rosa Faner (H. Clínic), Dra. Sara Martí (H. Bellvitge), Dr. Dr. César Jessé Enríquez (H. del Mar), Dra. Marina Galdeano (H. Germans Trias i Pujol), Dr. César Maquilón (Clínica Dávila, Santiago de Chile) With the sponsorship of:
  • 2. PARTE I: Condicionantes genéticos en el desarrollo de EPOC: "Young COPD" Mª Rosa Faner Canet, PhD Universitat de Barcelona, FCRB-IDIBAPS, CIBER. rfaner@ub.edu BRN Trustees: Investigando en EPOC: desde la genética a la clínica With the sponsorship of: 28/09/2023 www.brn.cat
  • 3. Outline 1. The many faces of COPD 2. Yong COPD 3. Conclusions
  • 4. Ian A Yang et al. Lancet Resp Med 2022 COPD smoking and beyond • One-tenth of the population • 3rd leading cause of mortality • FEV1/FVC < 0.7 • Mean age @diagnostic 65 yrs. • Clinical heterogeneity • 20-40% of COPD patients worldwide are never smokers.
  • 5. The many faces of COPD…. Smoking, infections, genetics, environment Mahmoud O et al. ERJ 2023 50% of COPD without evidence of accelerated decline History of early childhood LRTIs/pneumonia • 8/14 reduction FEV1 values, • 6/12 reductions in FVC Restrictive spirometry pattern. Andrew J Collaro, et al. Lancet Child Adolesc Health 2023 Allinson JP et al. Lancet 2023 And … earlier all cause mortality Agusti, Faner. Lancet Respir Med. 2019 Schiffers C, Respirology 2023 Beckman H, AJRCCM 2023 Agusti, Faner. Lancet Respir Med. 2017 COPD Mortality Multimorbidity
  • 6. Wang G, Mélen E AJRCCM 2022 Agusti, Faner. Lancet Respir Med. 2017 Wang G et al. AJRCCM 2023 Schiffers C, Respirology 2023 Beckman H, AJRCCM 2023 The way(s) to low peak lung function….
  • 7. • Chronic respiratory symptoms • No airflow limitation Pre-COPD • <50 years old • >10 packs/year • FEV1/FVC<LLN or Lung abnormality or Accelerated FEV1 decline Early COPD Young COPD • <50 years old • FEV1/FVC<0.7 Martinez et al. AJRCCM 2018 , Han M et al. AJRCCM 2021, Martinez et al. AJRCCM 2022 • FEV1/FVC<0.7 COPD Towards an earlier diagnosis?
  • 8. Agusti, Faner. Lancet Respir Med. 2017 Wang G et al. AJRCCM 2023 Schiffers C, Respirology 2023 Beckman H, AJRCCM 2023 Olvera et al. AJRCCM. 2023 Odds ratio (95% C.I. and p-value) for FEV1 < LLN Abnormal peak lung function…. Towards COPD?
  • 9. Biological domain Conception Time (age) Death Low birthweight Pollution Exercise Maternal smoking Vaccinations Infections Smoking Allergens Socioeconomic status Diet Lifestyle Alcohol Breastfeeding Microbiome Sunlight Occupational exposure Prematurity Accidents Exposome Genome Health and disease Phenotypes and treatable traits Health and disease Phenotypes and treatable traits Health and disease Phenotypes and treatable traits Endotypes and biomarkers Epigenetics Immune response Development and repair Endotypes and biomarkers Epigenetics Immune response Repair and ageing Endotypes and biomarkers Epigenetics Immune response Repair and ageing GETomics: COPD as Gene x Enviroment and Time disease Clinical domain Agusti, Faner, Lancet Respiratory Medicine 2022
  • 10. Outline 1. The many faces of COPD 2. Yong COPD? 3. Conclusions
  • 11. • Chronic respiratory symptoms • No airflow limitation Pre-COPD • <50 years old • >10 packs/year • FEV1/FVC<LLN or Lung abnormality or Accelerated FEV1 decline Early COPD Young COPD • <50 years old • FEV1/FVC<0.7 Martinez et al. AJRCCM 2018 , Han M et al. AJRCCM 2021, Martinez et al. AJRCCM 2022 • FEV1/FVC<0.7 COPD Towards an earlier diagnosis?
  • 12. 35-50 years FEV1/FVC<0.7 >10 PY Young COPD FEV1/FVC % FEV1 (% ref.) DLCO (% ref.) Cosio B, Faner R et al. ERJ Open
  • 13. Demographics Family history Previous history Symptoms <0.05 - >0.01 <0.01 - >0.001 <0.001 - >0-0001 <10E-4 - >10E-6 <10E-6 - >10E-20 <10E-20 P values Lung function Imaging Blood markers Cosio B, Faner R et al. ERJ Open Young COPD
  • 14. 35-50 years FEV1/FVC<0.7 >10 PY Ageing biomarkers: young vs old COPD Carlos López-Otín. Cell 2023 35-50 years FEV1/FVC<0.7 >10 PY
  • 15. Casas-Recasens et al. Frontiers Med 2021 Ageing biomarkers: young vs old COPD
  • 16. Casas-Recasens et al. Frontiers Med 2021 Ageing biomarkers: young vs old COPD
  • 17. 82 GWAS loci for COPD 35 New Sakornsakolpat P et al. 2019 SNPs associated to lung development Supporting a role of early life events in the risk of COPD Genetics of old COPD
  • 18. Eur Respir J 2022; 60: 2101954 Polygenic risk score and age of diagnosis of COPD
  • 19. Nissen G. et al. NEJM evidence 2023 • COPD PRS • lung function at 5 years Pulakka A et al. Eur Respir J 2023 Pre-term birth and obstructive disease Cohort of Pre-term birth children The genetics view
  • 20. Epigenetics of Pre-COPD, Young COPD? Age acceleration in cases vs. controls (40.2 vs. 38.7), p=0.03 Martino D. et al. AJRCCM 2023 Controls Cases THAS
  • 21. Outline 1. The many faces of COPD 2. Yong COPD? 3. Conclusions
  • 22. Conclusions • A life course perspective is need for COPD. • Young and old COPD from the same “setting” share phenotypic characteristics. • COPD biomarkers are present in young adults with abnormal peak lung function. • Accelerated aging has a role in the severity of the disease, independent of the patient’s age. • The genetics of COPD are related to its early onset.
  • 23. Thank you for your attention FUNDING Grup: Inflamació i reparació a les malalties respiratòries
  • 24. Martinu T. et al, Annu. Rev. Med. 2023. 74:427–41 CC-16 (CCSP) and lung disease • Secretory protein mainly expressed by airways club cells • Role regulating pulmonary inflammation

Notas del editor

  1. To do so, this is the outline that I will follow, first introducing the concept of the different types of COPD, then confronting the evidences from abnormal growth vs accelerated aging in this three levels, and finally concluding.
  2.  The traditional paradigm postulated an accelerated lung function decline associated to tobaco smoke and an abnormal immune response. And is associatet to Tobacco smoking, enviromental factors, has a genetic susceptibility and is asociated to an abnormal immune response. however COPD it is still mainly diagnosed at older ages,
  3.  The traditional paradigm postulated an accelerated lung function decline associated to tobaco smoke and an abnormal immune response. And is associatet to Tobacco smoking, enviromental factors, has a genetic susceptibility and is asociated to an abnormal immune response. however COPD it is still mainly diagnosed at older ages,
  4. So to move towards an early diagnosis some clinical terms have been defined Specifically: the term pre-COPD which refers to individuals of any age who have respiratory symptoms without airflow limitation    and the term EARLY COPD, which was defined by Martinez et al. in 2018, to refer to individuals younger than 50 years, with a smoking history of 10 or more pack-years, and evidence of fev1 declline or obstruction.   however since COPD can start in the utero we don't know if these patients are at an early phase, meaning the beggining of the disease. Therefore The term Young COPD was proposed to identify patients with COPD (defined by the GOLD standards) that are younger than 50 years old Additionally COPD patients can also be stratified by the severity of the airflow limitation into mild, moderate, severe or very severe, based on their FEV1 measure.   What it is not known is whether accelerated aging has similar effects in both young and old COPD patients, and also depending on the severity of airflow limitation.
  5.  The traditional paradigm postulated an accelerated lung function decline associated to tobaco smoke and an abnormal immune response. And is associatet to Tobacco smoking, enviromental factors, has a genetic susceptibility and is asociated to an abnormal immune response. however COPD it is still mainly diagnosed at older ages,
  6. To do so, this is the outline that I will follow, first introducing the concept of the different types of COPD, then confronting the evidences from abnormal growth vs accelerated aging in this three levels, and finally concluding.
  7. So to move towards an early diagnosis some clinical terms have been defined Specifically: the term pre-COPD which refers to individuals of any age who have respiratory symptoms without airflow limitation    and the term EARLY COPD, which was defined by Martinez et al. in 2018, to refer to individuals younger than 50 years, with a smoking history of 10 or more pack-years, and evidence of fev1 declline or obstruction.   however since COPD can start in the utero we don't know if these patients are at an early phase, meaning the beggining of the disease. Therefore The term Young COPD was proposed to identify patients with COPD (defined by the GOLD standards) that are younger than 50 years old Additionally COPD patients can also be stratified by the severity of the airflow limitation into mild, moderate, severe or very severe, based on their FEV1 measure.   What it is not known is whether accelerated aging has similar effects in both young and old COPD patients, and also depending on the severity of airflow limitation.
  8. Evidence of CT emphysema 63% cases 32% controls
  9. Dimension Reduction, One of the novel key aspects is including the age of interactions as a mechanism leading to different biology
  10. Determinants of onset and progression of COPD in Young adults. Destruction of terminal bronchioles before lung function decline or emphysema (Koo HK, Lancet Resp Med 2018) . Exclusion criteria were: alpha-1 antitrypsin (A1AT) deficiency, conditions that can potentially limit follow-up (foreseen changes of residence, psychiatric diseases), chronic inflammatory or autoimmune diseases, severe bronchiectasis, active tuberculosis, active cancer or other severe pulmonary diseases 10. Exclusion criteria for controls also included a previous diagnosis of asthma .  
  11. Wnt receptor56,57 and MAPK–ERK
  12. 55DMRs
  13. To do so, this is the outline that I will follow, first introducing the concept of the different types of COPD, then confronting the evidences from abnormal growth vs accelerated aging in this three levels, and finally concluding.