Expressive

rs12210323 - KIAA0319

Magnitude 2.0 · 2 studies on file

Reported associations

  • Potential genetic biomarkers are found to be associated with both cognitive function and blood pressure: A bivariate genome-wide association analysis. - Mechanisms of ageing and development (2022) · Zhang L, Wang W, Xu C, Duan H, Tian X, Zhang D · PubMed 35364053

    A bivariate genome-wide association study was conducted in 137 pairs of twins to explore the shared genetic loci between cognition and blood pressure (BP). Before SNPs imputation, rs72815554 is significantly (P < 5 × 10 ) associated with the cognition-pulse pressure (PP) phenotype, while after imputation, 4 and 9 SNPs are significantly associated with the cognition-SBP phenotype, and cognition-PP phenotype, respectively, including rs72815554. There existed SNPs with highly linkage disequilibrium (LD) of rs10998339, rs72815554, rs11665292, and rs10823231. Besides, rs10998347, rs12153038, and rs10998295 had higher RegulomeDB scores and are located in the transcription factors binding regions. Rs7574283 and rs58113664 are located in the super-enhancer regions which are expressed highly i

  • Multivariate genome-wide association study of depression, cognition, and memory phenotypes and validation analysis identify 12 cross-ethnic variants - Unknown journal (n.d.) · Unknown authors · PubMed 35907915

    ABSTRACT: To date, little is known about the pleiotropic genetic variants among depression, cognition, and memory. The current research aimed to identify the potential pleiotropic single nucleotide polymorphisms (SNPs), genes, and pathways of the three phenotypes by conducting a multivariate genome-wide association study and an additional pleiotropy analysis among Chinese individuals and further validate the top variants in the UK Biobank (UKB). In the discovery phase, the participants were 139 pairs of dizygotic twins from the Qingdao Twins Registry. The genome-wide efficient mixed-model analysis identified 164 SNPs reaching suggestive significance (P < 1 × 10−5). Among them, rs3967317 (P = 1.21 × 10−8) exceeded the genome-wide significance level (P < 5 × 10

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