rs1048775 - TEPSIN; NDUFAF8; CEP131; CEP131; CEP131; CEP131; CEP131

Magnitude 2.8 · 1 study on file

Reported associations

• A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia - Unknown journal (n.d.) · Unknown authors · PubMed 26154020

  ABSTRACT: Frontotemporal dementia (FTD) is the second most prevalent form of early onset dementia after Alzheimer's disease (AD). We performed a case-control association study in an Italian FTD cohort (n = 530) followed by the novel single nucleotide polymorphisms (SNPs)-to-genes approach and functional annotation analysis. We identified 2 novel potential loci for FTD. Suggestive SNPs reached p-values ∼10−7 and odds ratio > 2.5 (2p16.3) and 1.5 (17q25.3). Suggestive alleles at 17q25.3 identified a disease-associated haplotype causing decreased expression of -cis genes such as RFNG and AATK involved in neuronal genesis and differentiation and axon outgrowth, respectively. We replicated this locus through the SNPs-to-genes approach. Our functional annotation analysis indicated signif

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