Clinical implications of APOE genotyping for late-onset Alzheimer’s disease (LOAD) risk estimation: a review of the literature

Marshe, Victoria S.; Gorbovskaya, Ilona; Kanji, Sarah; Kish, Maxine; Müller, Daniel J.

doi:10.1007/s00702-018-1934-9

Cited by 18 publications

(19 citation statements)

References 63 publications

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“…Knowing one's risk can inspire positive health behaviours (e.g. setting health priorities, being vigilant about early symptoms) ( Marshe et al, 2019 ). On the other hand, providing risk results in the absence of healthcare professionals might put individuals at risk of distress and anxiety, particularly if they misinterpret the value and utility of the results ( Zallen, 2018 ; Marshe et al, 2019 ).…”

Section: Introductionmentioning

confidence: 99%

“…setting health priorities, being vigilant about early symptoms) ( Marshe et al, 2019 ). On the other hand, providing risk results in the absence of healthcare professionals might put individuals at risk of distress and anxiety, particularly if they misinterpret the value and utility of the results ( Zallen, 2018 ; Marshe et al, 2019 ). Concerns surrounding privacy and protection of data obtained by DTC companies have also been raised ( Caulfield and McGuire, 2012 ).…”

Section: Introductionmentioning

confidence: 99%

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Young people's moral attitudes and motivations towards direct-to-consumer genetic testing for inherited risk of Alzheimer disease

Pavarini

Hamdi

Lorimer

et al. 2021

European Journal of Medical Genetics

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Purpose Since the U.S. Food and Drug Administration approved sales of genetic tests for late-onset Alzheimer's disease (LOAD) risk, a heated debate has arisen over whether these tests should indeed be offered online and direct-to-consumer (DTC). As this debate progresses, it is important to understand the ethical perspectives and motivations of young people, who are a key target group for DTC services. Methods Thirty-one grandchildren of people with LOAD, aged 16–26, were interviewed about their moral attitudes and motivations with regards to DTC genetic testing for LOAD. Results Even though most participants claimed that people should have the right to access these services, they also expressed concerns about potential distress in response to learning about risk, particularly for minors. About a third were interested in testing, primarily to gain self-knowledge regarding one's health; however, face-to-face services were vastly preferred over the online option. Conclusion While DTC genetic companies often market their services as a “fun consumer product”, DTC testing for LOAD was largely understood as a serious health screening procedure and a vulnerable moment in the lives of young people in Alzheimer's families. This points to the importance of appropriate standards of information and support to young people pre- and post-testing.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Young people's moral attitudes and motivations towards direct-to-consumer genetic testing for inherited risk of Alzheimer disease

Pavarini

Hamdi

Lorimer

et al. 2021

European Journal of Medical Genetics

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“…The genetic factors contribute to the predisposition of the disease with multiple genes playing a role. Although the most wellcharacterized LOAD gene is the apolipoprotein E (APOE) gene, the genome-wide association studies and other linkage analysis identified more than 100 genes [1,6], which remain to be investigated.…”

Section: Introductionmentioning

confidence: 99%

Evidence-Based Genetics and Identification of Key Human Alzheimer’s Disease Alleles with Co-morbidities

Le¹,

Crouch²,

Villanueva³

et al. 2020

J Neurol Exp Neurosci

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Advancements in biomedical research have contributed to increasing the life expectancy of humans, but we now observe an increase in age-related diseases such as Alzheimer's disease. Genome-Wide Association Studies (GWAS) and linkage studies have identified human genes associated with Alzheimer's disease (referred to as AD genes). A previous study by Vahdati in 2017 has revealed the human AD genes and counterparts in model species [1]. Thus, we further investigate the co-morbidity genes and alleles. Using ontology analysis combined with cluster analysis, the study identified functional pathways enriched among the human AD genes, including 179 genes out of 695 human AD genes (26%) that were associated with one or more of the four neurological diseases including Amyotrophic lateral sclerosis, Multiple sclerosis, Parkinson's disease, and Schizophrenia [1]. More importantly, the results indicate co-morbidities with Late-Onset Alzheimer's Disease (LOAD) and other neurological conditions, implying the complexity of the phenotypes in the human AD. The co-morbidity genes may account for mixed symptoms for human AD as well as age-related risks of infections. Of them, the three genes are well conserved (Angiotensin I Converting Enzyme gene, ACE; Methylenetetrahydrofolate Reductase gene, MTHFR; and tumor necrosis factor gene, TNF). In this study, we confirmed the comorbidity of the three genes associated with AD. We further identified the comorbidity of two alleles in the MTHFR gene, C677T and A222V, significantly associated with Alzheimer's disease. This study provides an example of evidencebased analysis that is cost-effective and may be an effective approach to develop cure-alls for multiple diseases.

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“…Kolesterol taşınmasında rol oynayan apolipoprotein E'yi kodlayan APOE genindeki r4435358 ve rs7412 polimorfizmlerine ait triallelik kombinasyonlardan ε4 taşıyıcıların ε3 taşıyıcılara göre geç başlangıçlı Alzheimer hastalığı riskinin 2-3 kat artmasıyla sonuçlandığı bilinmektedir (45). Mirtazapin ve paroksetin iki hafta tedavi edilen YÇD hastalarında ε4 taşıyıcıların mirtazapin ile tedaviye daha iyi yanıt verirken, paroksetin ile tedavi edilenlerde yanıt oranlarının daha düşük olduğu bildirilmiştir (46).…”

Section: Diğer Farmakodinamik Gen Polimorfizmleriunclassified

İleri Yaş Depresyonunda Farmakogenetik Yaklaşımlar

Özbey¹,

Özkoç²,

Özkan³

et al. 2021

Akdeniz Medical Journal

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Yaşlılık çağı depresyonu, depresif semptomların 50-65 yaştan sonra ortaya çıktığı bir majör depresif bozukluk türüdür. Yaşlılık çağı depresyonu hastalarının yaklaşık olarak üçte biri günümüzde kullanılan antidepresanlara yanıt vermemektedir. Farmakogenetik bilginin klinik pratiğe aktarılması yaşlılık çağı depresyonu hastalarında antidepresanların etkinliğinin artırılmasını ve yan etkilerinin azaltılmasını sağlayabilir. Antidepresanların farmakogenetiği ile ilgili çalışmaların birçoğu genç erişkinlerde yapıldığından, farmakogenetik test stratejilerinin belirlenmesi için yaşlılık çağı depresyonunda antidepresan tedaviyi etkileyen genetik varyasyonların aydınlatılması gerekmektedir. Bu derleme yaşlılık çağı depresyonunda genetik polimorfizmlerin antidepresanların farmakokinetiği, terapötik yanıt ve advers ilaç reaksiyonları üzerindeki etkilerini araştıran makaleleri kapsamaktadır.

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Clinical implications of APOE genotyping for late-onset Alzheimer’s disease (LOAD) risk estimation: a review of the literature

Cited by 18 publications

References 63 publications

Young people's moral attitudes and motivations towards direct-to-consumer genetic testing for inherited risk of Alzheimer disease

Young people's moral attitudes and motivations towards direct-to-consumer genetic testing for inherited risk of Alzheimer disease

Evidence-Based Genetics and Identification of Key Human Alzheimer’s Disease Alleles with Co-morbidities

İleri Yaş Depresyonunda Farmakogenetik Yaklaşımlar

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