The severe form, hyperemesis gravidarum, affects 0.3-2% of pregnancies and its cause was unknown — until a 2018 genome-wide study pointed at two genes for placentation and appetite, GDF15 and IGFBP7.
Nausea and vomiting of pregnancy is common; its severe form, hyperemesis gravidarum (HG), occurs in 0.3–2% of pregnancies and carries real risk to both mother and baby. Its cause remained unknown, but the way it clusters in families, and twin-study results, suggested that genetics was essential to understanding it.
A 2018 study in Nature Communications ran a genome-wide association study on two versions of the problem at once: hyperemesis gravidarum as a yes/no diagnosis, and the severity of nausea and vomiting as a graded scale. Two loci were genome-wide significant in both scans and replicated in an independent cohort: chr19p13.11, where the gene is GDF15, and chr4q12, where it is IGFBP7. Both genes were already known for roles in placentation, appetite and cachexia — the wasting that accompanies severe illness.
This page covers the severity scan. rs16982345 sits in GDF15, one of the study's two headline loci. Three further variants are catalogued from the same scan — rs2508362 (PGR), rs4707680 (MAP3K7) and rs7761177 (HCRTR2) — but they are not among the loci the paper's abstract names, and this page does not extend the GDF15 finding to them. IGFBP7, the study's other headline gene, has no variant in this catalogue yet.
Hyperemesis gravidarum is a clinical diagnosis made during pregnancy, not a genotype. These variants are research associations; nothing here predicts whether any one pregnancy will be affected, and the study's own authors state that proving GDF15 and IGFBP7 actually cause nausea and vomiting of pregnancy requires further work.
What the study does establish is narrower and still notable: a condition whose cause had been unknown now has two replicated genetic risk loci, both in genes with known roles in the placenta and in appetite regulation — a concrete biological starting point where there had been none.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Nausea and Vomiting of Pregnancy (Hyperemesis Gravidarum) comes down to these specific, well-studied positions — not a diagnosis.
The studies behind these variants recruited participants from different ancestries — a result found in one population doesn't always transfer to another. Based on 4 of 4 linked studies with a resolved discovery ancestry.
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Nausea and Vomiting of Pregnancy (Hyperemesis Gravidarum). MyGeneLog™. https://www.mygenelog.com/conditions/nausea-and-vomiting-of-pregnancy
The severe form of nausea and vomiting of pregnancy, occurring in 0.3-2% of pregnancies and associated with risk to both mother and fetus. Its cause was unknown before genetic studies began.
Partly, and now with named genes: a 2018 genome-wide study found two loci, in GDF15 and IGFBP7, significant for both the diagnosis and for symptom severity, and replicated them in an independent cohort. Both genes act in placentation and appetite.
No. It is a risk association at the population level, and the study’s authors say that proving GDF15 causes the condition still requires further research.
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