Expressive

rs111278892 - CNN2 - ABCA7

Magnitude 4.5 · 2 studies on file

Reported associations

  • Genome-wide Association and Multi-Omics Studies Identify MGMT as a Novel Risk Gene for Alzheimer Disease Among Women - Unknown journal (n.d.) · Unknown authors · PubMed 35770850

    ABSTRACT: INTRODUCTION: Variants in the tau gene (MAPT) region are associated with breast cancer in women and Alzheimer disease (AD) among persons lacking APOE ε4 (ε4-). METHODS: To identify novel genes associated with tau-related pathology, we conducted two genome-wide association studies (GWAS) for AD, one among 10,340 ε4- women in the Alzheimer's Disease Genetics Consortium (ADGC) and another in 31 members (22 women) of a consanguineous Hutterite kindred. RESULTS: We identified novel associations of AD with MGMT variants in ADGC (rs12775171, odds ratio [OR]=1.4, P=4.9×10−8) and Hutterites (rs12256016 and rs2803456, OR=2.0, P=1.9×10−14). Multi-omics analyses showed that the most significant and largest number of associations among the SNPs, DNA-methylated CpGs, MGMT expression

  • Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk - Unknown journal (n.d.) · Unknown authors · PubMed 30617256

    ABSTRACT: Alzheimer's disease (AD) is highly heritable and recent studies have identified over 20 disease-associated genomic loci. Yet these only explain a small proportion of the genetic variance, indicating that undiscovered loci remain. Here, we performed a large genome-wide association study of clinically diagnosed AD and AD-by-proxy (71,880 cases, 383,378 controls). AD-by-proxy, based on parental diagnoses, showed strong genetic correlation with AD (rg=0.81). Meta-analysis identified 29 risk loci, implicating 215 potential causative genes. Associated genes are strongly expressed in immune-related tissues and cell types (spleen, liver and microglia). Gene-set analyses indicate biological mechanisms involved in lipid-related processes and degradation of amyloid precursor proteins. We

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