Study finds genetic link to bipolar disorder in Han Chinese

An association between transmembrane protein 108 and bipolar disorder was found in Han Chinese participants in a genome-wide association study published in JAMA Psychiatry.

Most genome-wide association studies have been performed in Europeans. The researchers in the present study sought to identify genome-wide risk loci among Han Chinese.

The researchers recruited 6,472 Han Chinese participants from mainland China. A sample of 958 people with bipolar disorder and 2050 controls were included. Discovery-stage genotyping was performed with the Illumina Infinium Global Screening Array (GSA) or the Illumina Genome-Wide Asian Screening Array (ASA). The imputation reference set was obtained from phase 3 of the 1000 Genomes project.

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The analysis demonstrated that rs9863544 has genome-wide significance (P =2.49 10-8; odds ratio [OR], 0.650; 95% CI, 0.559-0.756). In the GTEx dataset, NPHP3-AS1 mRNA was barely detectable in most human organs, while TMEM108 was “widely expressed” in human brain.

Based on studies in mice, the researchers concluded that physiological processes correlated with TMEM108 likely contribute to the pathogenesis of bipolar disorder. However, the Han Chinese genome-wide significant SNV rs9863544 and its surrounding variations did not show evidence of association with bipolar disorder in Europeans, which the researchers say suggests a risk locus for the disorder. bipolar specific to China.

Limitations include that control participants were recruited based on self-reported health status rather than occupational screening.

The authors conclude that their “study describes several novel risk loci for BD and a shared genetic basis for BD in Han Chinese and European populations.” They believe further research is needed to better understand “the underlying disease mechanisms”.


Li HJ, Zhang C, Hui L, et al; GeseDNA research team. Novel risk loci associated with genetic risk for bipolar disorder in Han Chinese: association study and genome-wide meta-analysis. JAMA Psychiatry. Published online December 2, 2020. doi:10.1001/jamapsychiatry.2020.3738

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