Asthma

Asthma is a chronic disease caused by inflammation of the airways that narrow, making breathing difficult and causing shortness of breath. Symptoms usually take the form of attacks (asthma attacks) that occur after exposure to triggers such as allergens, certain medications, viral infections or tobacco, among others. It is a major health problem worldwide, with a prevalence of between 5 and 14% of the population.

So far, no single direct cause of asthma has been identified, although many different risk factors related to the disease have been identified. Among them are:

  • Presence of other allergies. It has been shown that asthma is more frequent in people suffering from other allergies, eczema or rhinitis.
  • Urbanization: asthma is more frequent in people living in large cities, probably due to lifestyle factors.
  • Problems in lung development and maturation during childhood, associated with prematurity, exposure to tobacco smoke, underweight newborns or viral respiratory infections.
  • Exposure to allergens and environmental irritants such as dust mites, air pollution, chemicals, fumes or dust.
  • Overweight and obesity in children and adults.

Symptoms

Asthma is a chronic disease that causes the lungs to swell and constrict causing a series of characteristic symptoms, which may vary from person to person. In most cases, asthma presents with attacks, lasting minutes or days, separated by symptom-free periods. During the acute period one may experience:

  • Cough with or without phlegm production.
  • Intercostal tightness (pulling of the skin between the ribs when breathing).
  • Shortness of breath that worsens with activity.
  • Wheezing when breathing.
  • Chest pain or stiffness.
  • Difficulty sleeping.
  • Abnormal breathing pattern.

Occasionally, more serious symptoms may occur that require immediate medical attention, such as blueness of the skin, decreased alertness, extreme shortness of breath, or rapid pulse.

Prevention

To date there are no effective measures to prevent the onset of asthma, but it can be treated to prevent the main triggers and avoid new attacks.

  • Avoid breathing allergenic substances such as pollen, dust mites, fungi or animal hair (especially cat and dog hair). Avoid or reduce exposure to dust mites by avoiding carpets, rugs and stuffed animals in your home.
  • Avoid use of medications such as aspirin or other non-steroidal anti-inflammatory drugs.
  • Avoid exposure to irritants such as tobacco smoke, air pollution, cleaning products, hairspray, etc.
  • Avoid humid and warm environments such as indoor swimming pools, or intense physical exercise.

In addition to pharmacological treatments, which may be necessary to control asthma symptoms (mainly bronchial dilators and inhaled corticosteroids), immunotherapy, i.e. allergy vaccines, is available in some cases. This treatment is the only one that has been shown to reduce the natural course of allergic disease, although its potential benefit depends on the type of allergy and is not recommended for all patients with asthma.

Number of observed variants

13.5 million variants

Number of risk loci

123 loci

Genes analyzed

ABCB5 ACO2 ADAD1 ADAMTSL3 ADAMTSL4 ADO ADORA1 AHI1 ALOX15 ARHGAP15 ARRDC1 ATXN2 BATF3 BCL2L11 CADM3 CARD11 CCR4 CD200R1 CD247 CD70 CD80 CEP95 CLEC16A CLIC6 COG6 COL16A1 CXCR5 CYP26B1 D2HGDH DAW1 DPP4 EEFSEC ELAVL2 ETS1 FADS1 FCER1G FNDC9 FOXA3 GATA3 GNA15 GSDMB HDAC7 HLA-DPA1 ID2 IL13 IL18R1 IL1RL1 IL33 IL4R IL6 IL7R ITPKA ITPKB JAZF1 KLF5 LACC1 LBH LPP LRRC32 LYVE1 MAF1 MAP2K4 MPND MUC16 MUC5AC MYC MYO9B NCF4 NDFIP1 NEK6 NFATC2 NFKBIA NOD2 NRROS OLIG3 OVOL1 PEX14 PLCL2 POLI PRR5L PTPRC PTTG1 RAD51B RAF1 RAPGEF6 RBM15B RIN3 RORA RUNX3 RYBP SERPINB7 SIK2 SLC45A1 SLC7A10 SMAD3 SMAD7 SOCS3 SOX4 SPATA32 SPEM2 SPPL3 STAT5B STAT6 STEAP1B TBL1XR1 TBX21 TCF7 TESPA1 THEMIS TLR1 TM9SF2 TNFAIP8 TNFRSF11A TNFRSF14 TNFRSF6B TNFSF15 TNFSF4 TPD52 TRAF1 TRAF3 TSLP TSPAN8 ZBED9 ZBTB10 ZBTB38 ZDHHC12 ZNF217 ZNF366 ZNF652 ZNF76

Bibliography

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