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Risk score · Digestive health

GERD Polygenic Risk Score

Gastro-oesophageal reflux disease (GERD) is when stomach acid keeps flowing back into the oesophagus, causing heartburn. It affects about one in seven adults worldwide, and twin studies suggest around 40% of the risk is inherited.

A risk score adds up many common variants, each with a small effect, into an estimate of genetic predisposition. It is not a diagnosis.

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A polygenic score for Esophagitis, GERD and related diseases

Genetic variants

13,855

Method

Penalized regression (bigstatsr)

Developed in

European 100%

Evaluated in

European 38%, African 25%, East Asian 13%, Greater Middle Eastern 13%, South Asian 13%

Published

Privé F et al. (2022). Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort Am J Hum Genet.

The score in the PGS Catalog →

Limitations

  • This score was built from UK Biobank diagnoses grouped as oesophagitis, GERD and related conditions, mostly in people of European ancestry. It predicts less well in other ancestries, and it is not a diagnosis.

References

  1. Nirwan JS, Hasan SS, Babar ZU et al., 2020. Global Prevalence and Risk Factors of Gastro-oesophageal Reflux Disease (GORD): Systematic Review with Meta-analysis. Scientific reports
  2. Mohammed I, Cherkas LF, Riley SA et al., 2003. Genetic influences in gastro-oesophageal reflux disease: a twin study. Gut
  3. Ong JS, An J, Han X et al., 2022. Multitrait genetic association analysis identifies 50 new risk loci for gastro-oesophageal reflux, seven new loci for Barrett's oesophagus and provides insights into clinical heterogeneity in reflux diagnosis. Gut

Other digestive health risk scores

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