Tau gene polymorphisms and apolipoprotein E ε4 may interact to increase risk for Alzheimer’s disease

Lilius, Lena; Fabre, Susanne Froelich; Basun, Hans; Forsell, Charlotte; Axelman, Karin; Mattila, Kari M.; Andreadis, Athena; Viitanen, Matti; Winblad, Bengt; Fratiglioni, Laura; Lannfelt, Lars

doi:10.1016/s0304-3940(99)00833-2

Cited by 54 publications

(25 citation statements)

References 12 publications

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“…There have been however, several genetic studies of the tau locus in AD that have provided evidence for an association (16)(17)(18) where others have not (4,(19)(20)(21). Incorporating the STH polymorphism screening in these studies could elucidate the apparent inconsistencies in these reports and help determine whether there is an association between the tau͞STH locus and AD.…”

Section: Discussionmentioning

confidence: 99%

A polymorphic gene nested within an intron of the tau gene: Implications for Alzheimer's disease

Conrad

Vianna

Freeman

et al. 2002

Proc. Natl. Acad. Sci. U.S.A.

108

124

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A previously undescribed gene, Saitohin (STH), has been discovered in the intron between exons 9 and 10 of the human tau gene. STH is an intronless gene that encodes a 128-aa protein with no clear homologs. The tissue expression of STH is similar to tau, a gene that is implicated in many neurodegenerative disorders. In humans, a single nucleotide polymorphism that results in an amino acid change (Q7R) has been identified in STH and was used in a case control study. The Q7R polymorphism appears to be over-represented in the homozygous state in late onset Alzheimer's disease subjects.

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Section: Discussionmentioning

confidence: 99%

A polymorphic gene nested within an intron of the tau gene: Implications for Alzheimer's disease

Conrad

Vianna

Freeman

et al. 2002

Proc. Natl. Acad. Sci. U.S.A.

108

124

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“…The R406W mutation was absent from a cohort of control subjects in the Swedish population [7,8]. Previously, 2 pedigrees (from the Netherlands and Midwestern USA) with this mutation have been reported [9,10].…”

mentioning

confidence: 85%

The Tau R406W Mutation Causes Progressive Presenile Dementia with Bitemporal Atrophy

Ostojic

Elfgren

Passant

et al. 2004

Dement Geriatr Cogn Disord

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Frontotemporal dementia (FTD) and Alzheimer’s disease (AD) are two frequent causes of dementia that share both clinical and neuropathological features. Common to both disorders are the neurofibrillary tangles consisting of aggregations of hyperphosphorylated tau protein. Recently, a number of different pathogenic mutations in the tau gene have been identified in families with FTD and parkinsonism linked to chromosome 17 (FTDP-17). In the present study, a Swedish family with presenile degenerative dementia with bitemporal atrophy was screened for mutations in the tau gene. As a result, the R406W mutation in exon 13 was identified in all affected cases. This mutation has previously been reported in two different FTDP-17 families of Dutch and Midwestern American origin. Common features to these two kindreds and our family are the late age at onset and long duration of the disease. Our pedigree as well as the American one show early memory impairment and pronounced temporal lobar atrophy similar to AD, while the Dutch cases show more FTD features. This further illustrates the large clinical variability among cases with tau mutations and stresses the importance of genetic classification in addition to the traditional clinical classification of neurodegenerative disorders.

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“…Studies evaluating whether polymorphic variation in tau is associated with AD have produced conflicting results. A polymorphism in intron 11 [125] or exon 7 [126] in the tau combined with at least one APOE Â4 allele was associated with an increased risk for AD. However, tau exon 2 polymorphism was not associated with AD [127].…”

Section: Taumentioning

confidence: 97%

Candidate Gene Association Studies in Sporadic Alzheimer’s Disease

Combarros

Alvarez-Arcaya²,

Sánchez-Guerra³

et al. 2002

Dement Geriatr Cogn Disord

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The genetics of Alzheimer’s disease (AD) is complex. Three genes (amyloid precursor protein, presenilin 1 and presenilin 2) have been described in the relatively rare, early-onset, autosomal dominant familial form of AD. In the common, non-familial (sporadic) late-onset AD, the major known genetic risk factor is the Ε4 allele of the apolipoprotein E (APOE) gene. However, at least half of the people who develop AD do not carry this allele, and not all people who do carry this allele develop AD even if they live to an old age. Therefore, approximately 30 other candidate genes involving a protein in a critical pathway in the pathogenesis of disease (principally interaction with amyloid-β, oxidative stress and inflammation/apoptosis) have been considered as risk factors for sporadic AD. Then these genes have been sequenced in search of genetic variability or polymorphisms, and each putative polymorphism has been reported to alter the risk of AD either directly or by an interaction with the APOE Ε4 allele. However, positive-association studies with these candidate genes have not been consistently confirmed.

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Tau gene polymorphisms and apolipoprotein E ε4 may interact to increase risk for Alzheimer’s disease

Cited by 54 publications

References 12 publications

A polymorphic gene nested within an intron of the tau gene: Implications for Alzheimer's disease

A polymorphic gene nested within an intron of the tau gene: Implications for Alzheimer's disease

The Tau R406W Mutation Causes Progressive Presenile Dementia with Bitemporal Atrophy

Candidate Gene Association Studies in Sporadic Alzheimer’s Disease

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