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archiveJanuary 18, 2023

FinnGen study finds 30 new disease associations in Finnish population

Researchers analyzed data from 224,737 participants in the FinnGen study, examining genetic associations across 1,932 disease endpoints. They found 30 new associations for 15 diseases already studied in large genome-wide association studies, plus 2,733 genome-wide significant associations at 2,496 independent loci. Fine mapping pointed to 148 coding variants linked to 83 endpoints. Many of the low-frequency variants involved were enriched more than twofold in the Finnish population compared with non-Finnish European individuals.

The results show how a bottlenecked population like Finland's can surface low-frequency variants that carry outsized effects on common disease biology.

Source: FinnGen provides genetic insights from a well-phenotyped isolated population. (doi.org).

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