ApoE allele frequencies in Italian sporadic and familial Alzheimer's disease

Sorbi, Sandro; Nacmias, Benedetta; Forleo, Paolo; Latorraca, Stefania; Gobbini, Ida; Bracco, Laura; Piacentini, Silvia; Amaducci, L.

doi:10.1016/0304-3940(94)90054-x

Cited by 129 publications

(45 citation statements)

References 10 publications

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“…However, the differences between strokeϩ and strokeϪ individuals were comparable to those between strokeϩ and healthy subjects aged Ͻ 40 years. In addition, ⑀4 allele frequencies comparable to ours (Ͻ0.10) have been reported in other Italian series 33,34 and also in elderly Italian controls. 35 Population studies have demonstrated that the different ethnic and geographic distribution of apoE isoforms are associated with a different prevalence of dyslipidemia and coronary heart disease.…”

Section: Discussionsupporting

confidence: 67%

Prevalence of Apolipoprotein E Alleles in Healthy Subjects and Survivors of Ischemic Stroke

Margaglione

Seripa

Gravina

et al. 1998

Stroke

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Background and Purpose-The ⑀4 allele of the apolipoprotein E (apoE) has been related to the occurrence of myocardial infarction, but its association with ischemic stroke is controversial. We have evaluated the relation between apoE alleles and the occurrence of cerebrovascular ischemia. Methods-The apoE ⑀ genotypes of 100 patients with a documented history of ischemic stroke without clinically apparent dementia (strokeϩ) and 108 subjects without such history (strokeϪ) were determined. The relative frequency of the apoE alleles and genotypes was estimated in 398 healthy subjects aged Ͻ40 years from the same ethnic background.

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Section: Discussionsupporting

confidence: 67%

Prevalence of Apolipoprotein E Alleles in Healthy Subjects and Survivors of Ischemic Stroke

Margaglione

Seripa

Gravina

et al. 1998

Stroke

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“…The presence of one or more ε4 alleles is a major risk factor for AD in this family, acting synergistically with undiscovered disease loci or environmental factors to cause AD. In fact, the presence of ε4 allele appeared to increase the impact of other risk factors as described for head trauma whose risk of developing a dementia increase from 2 to 10 times in the presence of ε4 alleles [16]. In the affected members, the age at the onset of AD was markedly dependent on the ε4 allele dose.…”

Section: Discussionmentioning

confidence: 95%

F175S Change and a Novel Polymorphism in Presenilin-1 Gene in Late-Onset Familial Alzheimer’s Disease

Colacicco

Basile²,

Solfrizzi³

et al. 2002

Eur Neurol

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We analyzed at the molecular level with presenilin-1 (PS-1) and apolipoprotein E (apoE) genotyping the affected subjects and asymptomatic relatives of an Italian family with several members affected by late-onset familial Alzheimer’s disease (AD). The screen for PS-1 gene mutations revealed a novel missense substitution phenylalanine 175 to serine in 1 of the affected individuals and 2 asymptomatic sons of the patient. This change was not found in other relatives of this family, as well as in 60 individuals with sporadic late-onset AD and 40 normal controls. Furthermore, a GG/TT substitution in the 3′ end of intron 6 at the boundary with exon 7 was found in all relatives of the second and third generations of this family. All the affected relatives were female homo- or heterozygotes for apoE Ε4 allele. This study provides evidence that a PS-1 gene missense change does not necessarily associate with early-onset disease, and can occur in single cases affected by late-onset disease.

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“…Total >65 years Total familial Lannfelt et al [36] Yu et al [37] Lehtovirta et al [32] Corder et al [6] Corder et al [6] Total unselected Poduslo et al [24] Liddel et al [25] Gearing et al [26] St Clair et al [27] Harrington et al [28] Peacock and Fink et al [29] Galasko et al [30] Gomez-Isla et al [31] Lehtovirta et al [32] Benjamin et al [33] Nalbantoglu et al [34] Kambo et al [35] Lethimaki et al [11] Mak et al [12] Sakoda et al [13] Frisoni et al [14] Tsai et al [15] Lucotte et al [16] Tsuda et al [17] Dai et al [18] Talbot et al [19] Poirier et al [20] Tang Sorbi et al [39] Total unselected Lehtovirta et al [32] Lehtimaki et al [11] Corder et al [6] St Clair et al [27] 1 0.1 10 Odds ratio 100 necessary to account for publication bias. Second, Farrer et al did not divide cases into those with and without a family history.…”

Section: 01mentioning

confidence: 99%

Apolipoprotein E Genetic Variation and Alzheimer’s Disease

Rubinsztein

Easton

1999

Dement Geriatr Cogn Disord

146

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In order to quantify the effects of apolipoprotein (apo) E on early- and late-onset, sporadic and familial Alzheimer’s disease (AD) more precisely we performed a meta-analysis of 42 case-control series published before July 1996. We excluded studies of late-onset AD with fewer than 50 cases and 50 controls. The estimated odds ratio of AD over the age of 65 years associated with the apo ε4 allele, relative to apo ε3, was 3.18 (95% CI 2.93–3.45, p < 0.00001). Apo ε4 was associated with a significantly higher relative risk of early-onset disease (<65 years) unselected for family history (OR 4.86, 95% CI 3.61–6.54, p < 0.0001), but its impact on early-onset familial disease was weaker (OR 1.48, 95% CI 1.02–2.16). The estimated odds ratio associated with the ε4/ε4 genotype, relative to the ε3/ε3 genotype, was 11.57 (95% CI 8.67–15.44) for all cases over 65 and 61.44 (95% CI 13.47–280.3) for early-onset disease unselected for family history. Apo ε2 was associated with a significantly reduced odds ratio for AD above the age of 65 (OR 0.68, 95% CI 0.58–0.80, p < 0.00001), but not in familial early-onset AD, where apo ε2 may be associated with an increased risk (OR 1.70, 95% CI 1.02–2.84). We estimate that 60% (95% CI 48–68%) of AD cases over the age of 65 years and 92% of cases below the age of 65 would be attributable to apo E and that apo E probably accounts for less than 50% of the familial aggregation of the disease.

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ApoE allele frequencies in Italian sporadic and familial Alzheimer's disease

Cited by 129 publications

References 10 publications

Prevalence of Apolipoprotein E Alleles in Healthy Subjects and Survivors of Ischemic Stroke

Prevalence of Apolipoprotein E Alleles in Healthy Subjects and Survivors of Ischemic Stroke

F175S Change and a Novel Polymorphism in Presenilin-1 Gene in Late-Onset Familial Alzheimer’s Disease

Apolipoprotein E Genetic Variation and Alzheimer’s Disease

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