Placenta and appetite genes GDF15 and IGFBP7 are associated with hyperemesis gravidarum.
Level 4 - case-series / case-control
Genome-wide association study with replication cohort (observational genetic case-control/association design).
PubMed 29563502 · doi:10.1038/s41467-018-03258-0
What was done
Researchers conducted a genome-wide association study (GWAS) evaluating both binary (hyperemesis gravidarum diagnosis) and ordinal (severity of nausea and vomiting) pregnancy phenotypes. Significant associations were tested for replication in an independent cohort.
What was found
Two loci achieved genome-wide significance (p < 5 × 10⁻⁸) in both association analyses and replicated in an independent cohort: chr19p13.11 (implicating GDF15) and chr4q12 (implicating IGFBP7). Specific sample sizes, odds ratios, and effect sizes were not provided in the abstract.
Why it matters
This study links hyperemesis gravidarum to genes involved in placentation, appetite regulation, and cachexia (GDF15 and IGFBP7), offering genetic evidence for biological pathways driving severe pregnancy sickness.
Limits
The abstract omits sample sizes, participant demographics, and quantitative effect sizes. Observational genetic associations do not establish direct causal mechanisms, which require functional experimental confirmation.
Cited by
- supports GDF15 is the trigger for morning sickness and hyperemesis gravidarum in pregnancy, during which its levels can increase up to 10,000-fold.