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Taiwan Biobank GWAS Analyses Lead to Hundreds of New Quantitative Trait Loci

NEW YORK – By focusing on participants in a prospective cohort study known as the Taiwan Biobank effort, a team from Taiwan, the US, and Finland has uncovered hundreds of new genetic loci linked to three dozen quantitative traits.

Through their analysis, they gained a refined view of the genetic variants influencing these traits in Taiwanese individuals that overlap with or are distinct from those found in other populations. The findings appeared in Cell Genomics on Thursday.

"We believe that our study sets a new benchmark for future genetic research," senior and corresponding author Yen-Feng Lin, a researcher affiliated with Taiwan's National Health Research Institutes, the National Yang Ming Chiao Tung University, and National Cheng Kung University, said in an email.

The work points to the importance of using diverse genetic data to boost investigators' understanding of complex traits and diseases around the world, Lin explained, noting that the approach "has the potential to inform more tailored healthcare strategies across different populations."

Using genotyping profiles generated on one of two custom Thermo Fisher arrays for 102,900 individuals in the Taiwan Biobank project, the investigators searched for genome-wide significant ties to 36 quantitative traits, ranging from height, weight, or body mass index to bone density, blood cell measures, metabolic markers, and other quantifiable traits, leading to 1,986 genome-wide significant associations in the Taiwanese participants.

By combining GWAS data from the Taiwan Biobank with data for up to 158,282 Biobank Japan participants and 361,194 UK Biobank participants, the team went on to find 3,825 loci linked to the quantitative traits considered, including 968 trait-associated loci from individuals in Taiwan that had not been found in other populations in the past. Nearly 3,400 loci were associated with a subset of 24 traits in individuals of East Asian ancestry.

"This significantly expands our understanding of the genetic factors influencing these traits," Lin said, "particularly in East Asian populations, which have been underrepresented in past genetic studies."

Together with follow-up fine-mapping work that focused in on hundreds of individual variants, including two dozen missense variants suspected of being causal for the traits investigated, the work also pointed to potential pleiotropic variant effects and disease-linked genes in individuals from Taiwan.

When the investigators compared associations from the Taiwan Biobank participants with those described for individuals in the Japan or UK Biobank projects, meanwhile, they saw genetic architecture that was "broadly consistent" across populations, Lin noted.

"The novel loci discovered in East Asian cohorts highlight how genetic diversity can drive new discoveries," Lin said, adding that the current work "illustrates the power of using advanced statistical techniques for fine-mapping and developing polygenic risk scores (PRS) in diverse populations."

When the team tested PRS for biomarkers representing five complex traits ranging from weight conditions to type 2 diabetes, hypertension, or hyperlipidemia, for example, it was able to boost the performance of PRS by combining population-specific versions of them.

Based on their results so far, Lin further suggested that such a strategy "can enhance disease risk prediction and pave the way for personalized medicine."