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A genome-wide association study of plasma phosphorylated tau181
- Lord, Jodie (author)
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- Zettergren, Anna, 1978 (author)
- Gothenburg University,Göteborgs universitet,Centrum för åldrande och hälsa (AgeCap),Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Centre for Ageing and Health (Agecap),Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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- Ashton, Nicholas J. (author)
- Gothenburg University,Göteborgs universitet,Centrum för åldrande och hälsa (AgeCap),Wallenberg Centre for Molecular and Translational Medicine,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Centre for Ageing and Health (Agecap),Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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- Hye, Abdul (author)
- Proitsi, Petroula (author)
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- (creator_code:org_t)
- Elsevier BV, 2021
- 2021
- English.
- In: Neurobiology of aging. - : Elsevier BV. - 1558-1497 .- 0197-4580. ; 106
- Journal article (peer-reviewed)
Abstract
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- Plasma phosphorylated tau at threonine-181 (P-tau181) demonstrates promise as an accessible blood-based biomarker specific to Alzheimer's Disease (AD), with levels recently demonstrating high predictive accuracy for AD-relevant pathology. The genetic underpinnings of P-tau181 levels, however, remain elusive. This study presents the first genome-wide association study of plasma P-tau181 in a total sample of 1153 participants from 2 independent cohorts. No loci, other than those within the APOE genomic region (lead variant=rs429358, beta=0.32, p =8.44×10-25) demonstrated association with P-tau181 at genome-wide significance (p < 5×10-08), though rs60872856 on chromosome 2 came close (beta=-0.28, p=3.23×10-07, nearest gene=CYTIP). As the APOE ε4 allele is already a well-established genetic variant associated with AD, this study found no evidence of novel genetic associations relevant to plasma P-tau181, though presents rs60872856 on chromosome 2 as a candidate locus to be further evaluated in future larger size GWAS.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
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