Expressive

rs11949046 - GABRG2 - RNU6-164P

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes - Unknown journal (n.d.) · Unknown authors · PubMed 33987465

    ABSTRACT: Objective To discover genetic determinants of Parkinson disease (PD) motor subtypes, including tremor dominant (TD) and postural instability/gait difficulty (PIGD) forms. Methods In 3,212 PD cases of European ancestry, we performed a genome-wide association study (GWAS) examining 2 complementary outcome traits derived from the Unified Parkinson's Disease Rating Scale, including dichotomous motor subtype (TD vs PIGD) or a continuous tremor/PIGD score ratio. Logistic or linear regression models were adjusted for sex, age at onset, disease duration, and 5 ancestry principal components, followed by meta-analysis. Results Among 71 established PD risk variants, we detected multiple suggestive associations with PD motor subtype, including GPNMB (rs199351, psubtype = 0.01, pratio = 0.03)

  • Mapping genomic loci implicates genes and synaptic biology in schizophrenia - Unknown journal (n.d.) · Unknown authors · PubMed 35396580

    ABSTRACT: SUMMARY Schizophrenia has a heritability of 60-80%, much of which is attributable to common risk alleles. Here, in a 2-stage genome-wide association study of up to 76,755 people with schizophrenia and 243,649 controls, we report common variant associations at 287 distinct genomic loci. Associations were concentrated in genes expressed in CNS neurons, excitatory and inhibitory, but not other tissues or cell types. Using fine-mapping and functional genomic data, we identify 120 genes (106 protein-coding) as likely to underpin associations at some of these loci, including 16 genes with credible causal non-synonymous or UTR variation. We also implicate fundamental processes related to neuronal function, including synaptic organisation, differentiation, and transmission. Fine-mapped

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