Genetiska varianter associerade med svar på litiumbehandling

Scientists in this study scanned genomes of participating patients, testing whether any of 6 million single nucleotide polymorphisms (SNPs), pinpoint variations in DNA across the genome, were associated with a person’s response to lithium. Four SNPs in a single location on chromosome 21 met criteria for association. The region identified contains two genes for long, non-coding RNAs (lncRNAs). In addition to RNA’s role as an intermediary in the translation of genes into proteins, it is now known to have a broader variety of biologic roles, including regulating such functions as gene expression and other cell processes. The identification of these lncRNAs offers scientists targets with which to explore how these molecules shape how someone responds to lithium.

While the patient population in this study was larger than any previous focused on the genetics of the lithium response, like other GWAS studies, this one depended on patients’ recall of their treatment experience. In an effort to test these results in a way that would avoid the uncertainties of recall, the scientific team also looked for these SNPs in a separate, smaller group of (89) patients who were being treated with lithium and assessed prospectively, or as their treatment continued. The SNPs were indeed associated with poorer lithium response, adding confidence to the original finding.