Gastroesophageal reflux disease

Gastroesophageal reflux disease (GERD) occurs when part of the stomach contents flow into the esophagus causing irritation. It is one of the most prevalent gastrointestinal disorders, affecting 15% of the general population.

The main cause of gastroesophageal reflux disease is dysfunction of the lower esophageal sphincter, a ring of muscle fibers that connects the stomach to the esophagus and prevents gastric fluids from rising. In addition to genetic factors, there are a number of environmental factors that can significantly increase the risk:

  • Alcohol consumption.
  • Smoking.
  • Presence of hiatal hernia.
  • Obesity and overweight.
  • Pregnancy.
  • Scleroderma, a disorder that causes the accumulation of fibrous tissue.
  • Lying down immediately after food intake.
  • Regular intake of foods rich in fats or sugars.

Symptoms

The most common symptoms are the following:

  • Burning sensation in the chest that is usually more pronounced after ingestion of food and worse at bedtime.
  • Backflow of acid or sour liquid into the upper gastrointestinal tract.
  • Pain in the chest or upper abdomen
  • Dysphagia, difficulty swallowing
  • Sensation of a lump in the throat
  • Chronic cough
  • Laryngitis

Prevention

The best way to prevent the onset of GERD and minimize its symptoms is to modify risk factors. This includes maintaining a healthy weight and regular physical exercise, avoiding tobacco and alcohol, reducing the intake of fatty foods (especially at night), not abusing certain medications such as non-steroidal anti-inflammatory drugs, and waiting a reasonable amount of time between eating and going to bed.

Most of those affected respond to lifestyle changes and medications.

Number of observed variants

13.5 million variants

Number of risk loci

85 loci

Genes analyzed

ADARB1 AFF3 ALCAM AMN ANKK1 ANTXR2 ARHGAP15 ARPP21 B3GLCT BCL11A BRINP1 BRINP3 BTN1A1 C21orf62 C4orf45 CA10 CCDC68 CDH13 CDH8 CELF4 CENPC COL16A1 COX8C CRTC1 DNAJB9 DPYD EDEM3 ELAVL2 ERBB4 ESR1 FAM3B GRM8 H4C1 HIVEP2 IPO9 JADE2 KCNG2 KLHL29 KNDC1 MAD1L1 MAGI1 MAML3 MBD2 MDFIC MED27 MLLT10 MMS22L MSANTD1 MTRFR NEGR1 NUDT12 OPRD1 PCDH17 PCDH9 PDE1C PDE4B PGPEP1 PKDCC POU3F3 PRR16 PTP4A3 PTPRF PTPRO PTPRT RAB5B RAG2 RBM5 RPGRIP1L SALL1 SLC39A8 SORCS3 SPDEF STK24 STMND1 TAFA5 TANK TERF1 TMEFF2 TMEM106B TMTC2 TOPAZ1 TSKU TTC8 YLPM1

Bibliography

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