Irene Chong

The study involved attempting to identify links between the 58 selected traits, which can be quantified during clinical testing, and over 6 million genetic variants. (Credit: Institute of Cancer Research)

A novel Genome-Wide Association Study (GWAS) has identified multiple genomic links between clinical laboratory measurements and several complex diseases. The work, which was published earlier this week in Nature Genetics, involved examining genomic data from 162,255 Japanese people for loci connected to 58 quantitative traits. The genetic samples were supplied by the BioBank Japan Project.

“Our findings demonstrate that even without prior biological knowledge of cross-phenotype relationships, genetics corresponding to clinical measurements successfully recapture those measurements’ relevance to diseases, and thus can contribute to the elucidation of unknown etiology and pathogenesis,” the authors wrote.

The study involved attempting to identify links between the 58 selected traits, which can be quantified during clinical testing, and over 6 million genetic variants. The team were able to uncover 1,407 loci that were linked to 53 of the examined traits, 679 of which had not been identified before. Through further population and allele frequency studies, the team determined that the identified loci were more common in East Asian populations in comparison to European cohorts.

The team then incorporated data from 30 separate GWAS conducted on Japanese individuals that observed complex diseases and traits. With the additional data, they performed pairwise analysis of 30 complex diseases and 59 quantitative disease traits, an approach that uncovered 68 genomic correlations of significance. Further analysis of these links revealed that biologically similar phenotypes, such as autoimmune conditions, clustered together.

“We have presented one of the largest non-European GWAS of quantitative traits so far, identifying 1,407 trait-associated loci for 53 traits in 162,255 Japanese individuals,” the authors concluded. “By incorporating additional GWAS results for 32 complex diseases and traits in Japanese individuals, we further identified numerous pleiotropic loci, wide-ranging genetic correlations, and distinct cell-type specificity among the quantitative traits and diseases that confirmed or expanded our current understanding of biology.

“Our findings will contribute to future studies and serve as a fundamental resource for understanding the genetics and biology underlying clinical measurements and human diseases.”