20.500.12556/RUL-164854 The association of selected GWAS reported AD risk loci with CSF biomarker levels and cognitive decline in Slovenian patients Alzheimer’s disease (AD) is the most common neurodegenerative disease, with a complex genetic background. Apart from rare, familial cases, a combination of multiple risk loci contributes to the susceptibility of the disease. Genome-wide association studies (GWAS) have identified numerous AD risk loci. Changes in cerebrospinal fluid (CSF) biomarkers and imaging techniques can detect AD-related brain changes before the onset of clinical symptoms, even in the presence of preclinical mild cognitive impairment. In this study, we aimed to assess the associations between SNPs in well-established GWAS AD risk loci and CSF biomarker levels or cognitive test results in Slovenian patients with cognitive decline. The study included 82 AD patients, 28 MCI patients with pathological CSF biomarker levels and 35 MCI patients with normal CSF biomarker levels. Carriers of at least one polymorphic TOMM40 rs157581 C allele had lower Aβ$_{42}$ (p = 0.033) and higher total tau (p = 0.032) and p-tau$_{181}$ levels (p = 0.034). Carriers of at least one polymorphic T allele in SORCS1 rs1358030 had lower total tau (p = 0.019), while polymorphic SORCS1 rs1416406 allele was associated with lower total tau (p = 0.013) and p-tau181 (p = 0.036). In addition, carriers of at least one polymorphic T allele in BCHE rs1803274 had lower cognitive test scores (p = 0.029). The study findings may contribute to the identification of genetic markers associated with AD and MCI and provide insights into early disease diagnostics. Alzheimer's disease mild cognitive impairment polymorphism biomarker Alzeimerjeva bolezen blaga kognitivna motnja polimorfizem biološki označevalec true false true Angleški jezik Slovenski jezik Članek v reviji 2024-11-13 15:51:19 2024-11-13 15:51:23 2024-11-22 14:56:24 0000-00-00 00:00:00 2023 0 0 14 str. iss. 16, art. 12966 Vol. 24 2023 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616.8 1661-6596 10.3390/ijms241612966 162794499 ijms-24-12966-v2.pdf ijms-24-12966-v2.pdf 1 102ECD205E00609EEE4DA263C427140D aeed3c8054c918daa48c01a67be0a40a4a2c9ccfd0ab53073553316b06e02774 a30e2743-a1ce-11ef-b232-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=195643 https://www.mdpi.com/1422-0067/24/16/12966 1 63345bb5-a1ce-11ef-b232-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=195642 Medicinska fakulteta Fakulteta za farmacijo 0 0 0