Expressive

rs111821600 - RNU6-741P - PWRN4

Magnitude 2.2 · 2 studies on file

Reported associations

  • Improving lithium dose prediction using population pharmacokinetics and pharmacogenomics: a cohort genome-wide association study in Sweden. - The lancet. Psychiatry (2022) · Millischer V, Matheson GJ, Bergen SE, Coombes BJ, Ponzer K, Wikström F, Jagiello K, Lundberg M, Stenvinkel P, Biernacka JM, Breuer O, Martinsson L, Landén M, Backlund L, Lavebratt C, Schalling M · PubMed 35569502

    Lithium is the most effective treatment for bipolar disorder, resulting in strong suicide prevention effects. The therapeutic range of lithium, however, is narrow and treatment initiation requires individual titration to address inter-individual variability. We aimed to improve lithium dose prediction using clinical and genomic data. We performed a population pharmacokinetic study followed by a genome-wide association study (GWAS), including two clinical Swedish cohorts. Participants in cohort 1 were from specialised outpatient clinics at Huddinge Hospital, in Stockholm, Sweden, and participants in cohort 2 were identified using the Swedish National Quality Registry for Bipolar disorder (BipoläR). Patients who received a lithium dose corresponding to at least one tablet of lithium sulphat

  • Genome-wide meta-analysis identifies novel gender specific loci associated with thyroid antibodies level in Croatians. - Genomics (2019) · Matana A, Popović M, Boutin T, Torlak V, Brdar D, Gunjača I, Kolčić I, Boraska Perica V, Punda A, Polašek O, Hayward C, Barbalić M, Zemunik T · PubMed 29678681

    Autoimmune thyroid diseases (AITD) are multifactorial endocrine diseases most frequently accompanied by Tg and TPO autoantibodies. Both antibodies have a higher prevalence in females and act under a strong genetic influence. To identify novel variants underlying thyroid antibody levels, we performed GWAS meta-analysis on the plasma levels of TgAb and TPOAb in three Croatian cohorts, as well as gender specific GWAS and a bivariate analysis. No significant association was detected with the level of TgAb and TPOAb in the meta-analysis of GWAS or bivariate results for all individuals. The bivariate analysis in females only revealed a genome-wide significant association for the locus near GRIN3A (rs4457391, P = 7.76 × 10 ). The same locus had borderline association with TPOAb levels in

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