A large-scale genetic analysis of East Asian individuals led by Fuu-Jen Tsai of the China Medical University Hospital, finds that people with greater height face a higher risk of endometriosis and atrial fibrillation. They report these findings in the journal PLOS Genetics.
A person's height is the result of a complex mix of genetic and environmental factors. The genetics underlying height have been linked to multiple health conditions, but these stature-related health risks have not been well explored, especially in East Asian populations.
Researchers performed two genome-wide association studies to find genetic factors linked to a person's height or to a mostly harmless condition called familial short stature, where people are short due to inherited genetics. Using data from more than 120,000 Han Taiwanese individuals, they identified 293 genetic variants linked to height and five linked to familial short stature. Additional analysis with data from five East Asian biobanks enabled the team to estimate health risks associated with these genetic variants.
A person's height was linked to overall body size and lung function, as well as cardiovascular traits and reproductive traits, including the age when menstruation starts. Being taller increased a person's risk of endometriosis, which is when tissue similar to the uterine lining grows outside the uterus, and atrial fibrillation, a condition where the heart quivers rapidly and erratically instead of beating regularly. People with shorter stature were less likely to develop endometriosis.
Overall, the new study highlights the complex genetic factors underlying stature and its associations with various health-related traits. The researchers conclude that height is a genetically informed risk factor that could be used to predict certain health risks for East Asian populations. However, further research is needed to validate these associations and inform clinical applications.
The authors add: "By integrating genetic data across multiple East Asian biobanks, we show that the genetics of stature is linked not only to growth-related traits but also to clinically relevant outcomes—most notably atrial fibrillation and endometriosis. These results suggest that stature-related polygenic scores could help improve early risk stratification in East Asian populations."
Freely available article: https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1012030
Citation: Lin Y-J, Liu T-Y, Yang J-S, Li J-P, Chiou J-S, Lu H-F, et al. (2026) Unraveling the genetic links between stature and disease in East Asians: A multi-biobank genetic correlation and risk prediction study. PLoS Genet 22(3): e1012030. https://doi.org/10.1371/journal.pgen.1012030
Author Countries: Taiwan, Japan
Funding: We thank the China Medical University, Taiwan (CMU111-MF-21 to YJL, CMU111-S-35 to YJL, and CMU113-MF-47 to YJL), the China Medical University Hospital, Taiwan (DMR-112-042 to FJT, DMR-113-038 to FJT, DMR-113-103 to YJL, DMR-114-015 to FJT, DMR-114-088 to YJL, DMR-115-044 to FJT, and DMR-115-120 to YJL), and the Ministry of Science and Technology, Taiwan (NSTC 113-2320-B-039-041 to YJL, NSTC 114-2314-B-039-019 to ICC, NSTC 114-2314-B-039-020 to FJT, NSTC 114-2320-B-039-046 to YJL, NSTC 114-2813-C-039-060-B to YJL, and NSTC 114-2813-C-039-147-B to FJT) for supporting this study. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
