In 2019, the Bipolar disorder Working Group of the Psychiatric Genomics Consortium (PGC) reported a multi-stage bipolar disorder genome-wide association study (PGC2 GWAS) of up to 20,352 cases and 31,358 controls of European descent. In this study, 30 loci were genome-wide significant, including 20 newly identified loci (Stahl EA et al. Genome-wide association study identifies 30 loci associated with bipolar disorder. Nature Genetics, 51(5):793-803. [ PMID: 31043756]).

In 2021, the Bipolar disorder Working Group of the Psychiatric Genomics Consortium (PGC) reported a new performed a genome-wide association study (PGC3 GWAS) of 41,917 bipolar disorder cases and 371,549 controls of European descent, which identified 64 associated genomic loci. In this study, of the 64 genome-wide significant loci, 33 are novel discoveries (ie. loci not overlapping with any locus previously reported as genome-wide significant for bipolar disorder). (Mullins et al. Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology. Nature Genetics, 53(6):817-829. [PMID: 34002096]).

It should be noted that these two GWAS studies were not fully independent.

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