Your height affects your health: genetic determinants and health-related outcomes in Taiwan

BMC Med. 2022 Jul 13;20(1):250. doi: 10.1186/s12916-022-02450-w.


Background: Height is an important anthropometric measurement and is associated with many health-related outcomes. Genome-wide association studies (GWASs) have identified hundreds of genetic loci associated with height, mainly in individuals of European ancestry.

Methods: We performed genome-wide association analyses and replicated previously reported GWAS-determined single nucleotide polymorphisms (SNPs) in the Taiwanese Han population (Taiwan Biobank; n = 67,452). A genetic instrument composed of 251 SNPs was selected from our GWAS, based on height and replication results as the best-fit polygenic risk score (PRS), in accordance with the clumping and p-value threshold method. We also examined the association between genetically determined height (PRS251) and measured height (phenotype). We performed observational (phenotype) and genetic PRS251 association analyses of height and health-related outcomes.

Results: GWAS identified 6843 SNPs in 89 genomic regions with genome-wide significance, including 18 novel loci. These were the most strongly associated genetic loci (EFEMP1, DIS3L2, ZBTB38, LCORL, HMGA1, CS, and GDF5) previously reported to play a role in height. There was a positive association between PRS251 and measured height (p < 0.001). Of the 14 traits and 49 diseases analyzed, we observed significant associations of measured and genetically determined height with only eight traits (p < 0.05/[14 + 49]). Height was positively associated with body weight, waist circumference, and hip circumference but negatively associated with body mass index, waist-hip ratio, body fat, total cholesterol, and low-density lipoprotein cholesterol (p < 0.05/[14 + 49]).

Conclusions: This study contributes to the understanding of the genetic features of height and health-related outcomes in individuals of Han Chinese ancestry in Taiwan.

Keywords: Genetic single nucleotide polymorphisms; Genome-wide association studies; Health-related outcomes; Height; Polygenic risk score.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cholesterol
  • Extracellular Matrix Proteins
  • Genetic Predisposition to Disease / genetics
  • Genome-Wide Association Study*
  • Humans
  • Polymorphism, Single Nucleotide* / genetics
  • Taiwan / epidemiology
  • Waist-Hip Ratio


  • EFEMP1 protein, human
  • Extracellular Matrix Proteins
  • Cholesterol