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  • 1
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    Genetic variants for head size share genes and pathways with cancer
    Elsevier BV ; 2024
    In:  Cell Reports Medicine Vol. 5, No. 5 ( 2024-05), p. 101529-
    Details
    In: Cell Reports Medicine, Elsevier BV, Vol. 5, No. 5 ( 2024-05), p. 101529-
    Type of Medium: Online Resource
    ISSN: 2666-3791
    URL: Article
    DOI: 10.1016/j.xcrm.2024.101529
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2024
    detail.hit.zdb_id: 3019420-9
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  • 2
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    Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease
    Springer Science and Business Media LLC ; 2022
    In:  Nature Genetics Vol. 54, No. 12 ( 2022-12), p. 1786-1794
    Details
    In: Nature Genetics, Springer Science and Business Media LLC, Vol. 54, No. 12 ( 2022-12), p. 1786-1794
    Abstract: Alzheimer’s disease (AD), the leading cause of dementia, has an estimated heritability of approximately 70% 1 . The genetic component of AD has been mainly assessed using genome-wide association studies, which do not capture the risk contributed by rare variants 2 . Here, we compared the gene-based burden of rare damaging variants in exome sequencing data from 32,558 individuals—16,036 AD cases and 16,522 controls. Next to variants in TREM2 , SORL1 and ABCA7 , we observed a significant association of rare, predicted damaging variants in ATP8B4 and ABCA1 with AD risk, and a suggestive signal in ADAM10 . Additionally, the rare-variant burden in RIN3, CLU, ZCWPW1 and ACE highlighted these genes as potential drivers of respective AD-genome-wide association study loci. Variants associated with the strongest effect on AD risk, in particular loss-of-function variants, are enriched in early-onset AD cases. Our results provide additional evidence for a major role for amyloid-β precursor protein processing, amyloid-β aggregation, lipid metabolism and microglial function in AD.
    Type of Medium: Online Resource
    ISSN: 1061-4036 , 1546-1718
    URL: Article
    DOI: 10.1038/s41588-022-01208-7
    RVK:
    XA 10000
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2022
    detail.hit.zdb_id: 1494946-5
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  • 3
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    Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes
    Springer Science and Business Media LLC ; 2022
    In:  Genome Medicine Vol. 14, No. 1 ( 2022-12)
    Details
    In: Genome Medicine, Springer Science and Business Media LLC, Vol. 14, No. 1 ( 2022-12)
    Abstract: Alzheimer disease (AD) is a common complex disorder with a high genetic component. Loss-of-function (LoF) SORL1 variants are one of the strongest AD genetic risk factors. Estimating their age-related penetrance is essential before putative use for genetic counseling or preventive trials. However, relative rarity and co-occurrence with the main AD risk factor, APOE -ε4, make such estimations difficult. Methods We proposed to estimate the age-related penetrance of SORL1 -LoF variants through a survival framework by estimating the conditional instantaneous risk combining (i) a baseline for non-carriers of SORL1- LoF variants, stratified by APOE-ε4 , derived from the Rotterdam study ( N = 12,255), and (ii) an age-dependent proportional hazard effect for SORL1- LoF variants estimated from 27 extended pedigrees (including 307 relatives ≥ 40 years old, 45 of them having genotyping information) recruited from the French reference center for young Alzheimer patients. We embedded this model into an expectation-maximization algorithm to accommodate for missing genotypes. To correct for ascertainment bias, proband phenotypes were omitted. Then, we assessed if our penetrance curves were concordant with age distributions of APOE -ε4-stratified SORL1- LoF variant carriers detected among sequencing data of 13,007 cases and 10,182 controls from European and American case-control study consortia. Results SORL1- LoF variants penetrance curves reached 100% (95% confidence interval [99–100%]) by age 70 among APOE -ε4ε4 carriers only, compared with 56% [40–72%] and 37% [26–51%] in ε4 heterozygous carriers and ε4 non-carriers, respectively. These estimates were fully consistent with observed age distributions of SORL1- LoF variant carriers in case-control study data. Conclusions We conclude that SORL1- LoF variants should be interpreted in light of APOE genotypes for future clinical applications.
    Type of Medium: Online Resource
    ISSN: 1756-994X
    URL: Article
    DOI: 10.1186/s13073-022-01070-6
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2022
    detail.hit.zdb_id: 2484394-5
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  • 4
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    Ethical Considerations in Screening for Rapid Eye Movement Sleep Behavior Disorder in the General Population
    Wiley ; 2020
    In:  Movement Disorders Vol. 35, No. 11 ( 2020-11), p. 1939-1944
    Details
    In: Movement Disorders, Wiley, Vol. 35, No. 11 ( 2020-11), p. 1939-1944
    Abstract: Clinical studies have shown that up to 90% of patients with idiopathic rapid eye movement sleep behavior disorder (RBD) will eventually be diagnosed with a clinical α‐synucleinopathy. Because of this high conversion rate, screening for RBD is often performed to identify eligible participants for studies aimed at elucidating the prodromal phase of α‐synucleinopathies. However, screening for RBD, especially in the general population, raises many ethical dilemmas. In light of the existing ethical literature and our experience in establishing a screening approach for RBD in the Rotterdam Study, we discuss ethical dilemmas when screening for RBD in population‐based studies. We conclude that informing study participants about the reason for invitation and the possible trajectory that lies ahead when participating is essential. However, participants should not be troubled unnecessarily by giving them detailed information about possible diagnoses or associated disease risks. © 2020 International Parkinson and Movement Disorder Society
    Type of Medium: Online Resource
    ISSN: 0885-3185 , 1531-8257
    URL: Issue
    URL: Article
    DOI: 10.1002/mds.v35.11
    DOI: 10.1002/mds.28262
    RVK:
    XA 10000
    Language: English
    Publisher: Wiley
    Publication Date: 2020
    detail.hit.zdb_id: 2041249-6
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  • 5
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    Skin advanced glycation end products and the risk of dementia
    Wiley ; 2022
    In:  Alzheimer's & Dementia Vol. 18, No. S11 ( 2022-12)
    Details
    In: Alzheimer's & Dementia, Wiley, Vol. 18, No. S11 ( 2022-12)
    Abstract: Conditions such as hyperglycemia and oxidative stress lead to the formation of advanced glycation end products (AGEs), which have also been implicated in neurodegeneration including dementia. Previous studies have shown a link between these AGEs and the occurrence of Alzheimer’s neuropathology and worse cognitive functioning. However, no study examined the association between AGE levels and the risk of dementia. Therefore, we used skin AGE levels, reflecting accumulation of AGEs in long‐lived tissues, to determine the association with the risk of dementia and brain MRI measures. Method Within the Rotterdam Study, we determined skin AGEs using skin autofluorescence (SAF [arbitrary units]) measured at the forearm, between 2013 and 2016 in 2938 participants without dementia. Of them, 1515 also underwent brain MRI. All participants were followed for the incidence of dementia until 2020. The associations of SAF with incident dementia and with brain MRI measures were assessed, adjusting for potential confounders, namely age, sex, education, APOE ε4 carriership, smoking, estimated glomerular filtration rate, fasting glucose level and use of antidiabetic medication. Result Of 2938 participants (mean age 72.6 years, 57% women), 124 developed dementia during a median follow‐up of 4.3 years. Higher SAF was associated with an increased risk of dementia (hazard ratio (HR) 1.22 per standard deviation increase of SAF [95% confidence interval 1.03‐1.45]) and of Alzheimer’s disease (HR 1.21 [1.00‐1.48] ). Stronger effects were seen in APOE ε4 carriers with HRs of 1.38 [1.03‐1.84] for all‐cause dementia and 1.51 [1.10‐2.09] for Alzheimer’s disease. Participants with higher SAF also had lower total brain volumes on MRI (difference per standard deviation increase: ‐2.71 mL [‐4.54; ‐0.89]), lower grey matter volumes (‐1.77 mL [‐3.45; ‐0.08] ) and lower hippocampus volumes (‐0.04 [‐0.07; ‐0.01]). In addition, they tended to more often have lacunar infarcts and microbleeds (odds ratios: 1.22 [0.99‐1.50] and 1.09 [0.96‐1.25]). Conclusion Higher levels of AGEs in the skin are associated with an increased risk of dementia, especially in APOE ε4 carriers, and with lower brain volumes. These results suggest that AGEs are involved in dementia pathophysiology and may provide potential for prevention.
    Type of Medium: Online Resource
    ISSN: 1552-5260 , 1552-5279
    URL: Issue
    URL: Article
    DOI: 10.1002/alz.v18.S11
    DOI: 10.1002/alz.061469
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 2201940-6
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  • 6
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    C-factor: a summary measure for systemic arterial calcifications
    Springer Science and Business Media LLC ; 2021
    In:  BMC Cardiovascular Disorders Vol. 21, No. 1 ( 2021-12)
    Details
    In: BMC Cardiovascular Disorders, Springer Science and Business Media LLC, Vol. 21, No. 1 ( 2021-12)
    Abstract: Arterial calcification, the hallmark of arteriosclerosis, has a widespread distribution in the human body with only moderate correlation among sites. Hitherto, a single measure capturing the systemic burden of arterial calcification was lacking. In this paper, we propose the C-factor as an overall measure of calcification burden. Methods To quantify calcification in the coronary arteries, aortic arch, extra- and intracranial carotid arteries, and vertebrobasilar arteries, 2384 Rotterdam Study participants underwent cardiac and extra-cardiac non-enhanced CT. We performed principal component analyses on the calcification volumes of all twenty-six possible combinations of these vessel beds. Each analysis’ first principal component represents the C-factor. Subsequently, we determined the correlation between the C-factor derived from all vessel beds and the other C-factors with intraclass correlation coefficient (ICC) analyses. Finally, we examined the association of the C-factor and calcification in the separate vessel beds with cardiovascular, non-cardiovascular, and overall mortality using Cox–regression analyses. Results The ICCs ranged from 0.80 to 0.99. Larger calcification volumes and a higher C-factor were all individually associated with higher risk of cardiovascular, non-cardiovascular, and overall mortality. When included simultaneously in a model, the C-factor was still associated with all three mortality types (adjusted hazard ratio per standard deviation increase (HR)  〉  1.52), whereas associations of the separate vessel beds with mortality attenuated substantially (HR  〈  1.26). Conclusions The C-factor summarizes the systemic component of arterial calcification on an individual level and appears robust among different combinations of vessel beds. Importantly, when mutually adjusted, the C-factor retains its strength of association with mortality while the site-specific associations attenuate.
    Type of Medium: Online Resource
    ISSN: 1471-2261
    URL: Article
    DOI: 10.1186/s12872-021-02126-y
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2021
    detail.hit.zdb_id: 2059859-2
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  • 7
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    Twenty-seven-year time trends in dementia incidence in Europe and the United States : The Alzheimer Cohorts Consortium
    Ovid Technologies (Wolters Kluwer Health) ; 2020
    In:  Neurology Vol. 95, No. 5 ( 2020-08-04), p. e519-e531
    Details
    In: Neurology, Ovid Technologies (Wolters Kluwer Health), Vol. 95, No. 5 ( 2020-08-04), p. e519-e531
    Abstract: To determine changes in the incidence of dementia between 1988 and 2015. Methods This analysis was performed in aggregated data from individuals 〉 65 years of age in 7 population-based cohort studies in the United States and Europe from the Alzheimer Cohort Consortium. First, we calculated age- and sex-specific incidence rates for all-cause dementia, and then defined nonoverlapping 5-year epochs within each study to determine trends in incidence. Estimates of change per 10-year interval were pooled and results are presented combined and stratified by sex. Results Of 49,202 individuals, 4,253 (8.6%) developed dementia. The incidence rate of dementia increased with age, similarly for women and men, ranging from about 4 per 1,000 person-years in individuals aged 65–69 years to 65 per 1,000 person-years for those aged 85–89 years. The incidence rate of dementia declined by 13% per calendar decade (95% confidence interval [CI], 7%–19%), consistently across studies, and somewhat more pronouncedly in men than in women (24% [95% CI 14%–32%] vs 8% [0%–15%]). Conclusion The incidence rate of dementia in Europe and North America has declined by 13% per decade over the past 25 years, consistently across studies. Incidence is similar for men and women, although declines were somewhat more profound in men. These observations call for sustained efforts to finding the causes for this decline, as well as determining their validity in geographically and ethnically diverse populations.
    Type of Medium: Online Resource
    ISSN: 0028-3878 , 1526-632X
    URL: Article
    DOI: 10.1212/WNL.0000000000010022
    RVK:
    XA 10000
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2020
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  • 8
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    Assessment of Advanced Glycation End Products and Receptors and the Risk of Dementia
    American Medical Association (AMA) ; 2021
    In:  JAMA Network Open Vol. 4, No. 1 ( 2021-01-08), p. e2033012-
    Details
    In: JAMA Network Open, American Medical Association (AMA), Vol. 4, No. 1 ( 2021-01-08), p. e2033012-
    Type of Medium: Online Resource
    ISSN: 2574-3805
    URL: Article
    DOI: 10.1001/jamanetworkopen.2020.33012
    Language: English
    Publisher: American Medical Association (AMA)
    Publication Date: 2021
    detail.hit.zdb_id: 2931249-8
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  • 9
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    Determinants of Perivascular Spaces in the General Population : A Pooled Cohort Analysis of Individual Participant Data
    Ovid Technologies (Wolters Kluwer Health) ; 2023
    In:  Neurology Vol. 100, No. 2 ( 2023-01-10), p. e107-e122
    Details
    In: Neurology, Ovid Technologies (Wolters Kluwer Health), Vol. 100, No. 2 ( 2023-01-10), p. e107-e122
    Abstract: Perivascular spaces (PVS) are emerging markers of cerebral small vessel disease (CSVD), but research on their determinants has been hampered by conflicting results from small single studies using heterogeneous rating methods. In this study, we therefore aimed to identify determinants of PVS burden in a pooled analysis of multiple cohort studies using 1 harmonized PVS rating method. Methods Individuals from 10 population-based cohort studies with adult participants from the Uniform Neuro-Imaging of Virchow-Robin Spaces Enlargement consortium and the UK Biobank were included. On MRI scans, we counted PVS in 4 brain regions (mesencephalon, hippocampus, basal ganglia, and centrum semiovale) according to a uniform and validated rating protocol, both manually and automated using a deep learning algorithm. As potential determinants, we considered demographics, cardiovascular risk factors, APOE genotypes, and other imaging markers of CSVD. Negative binomial regression models were used to examine the association between these determinants and PVS counts. Results In total, 39,976 individuals were included (age range 20–96 years). The average count of PVS in the 4 regions increased from the age 20 years (0–1 PVS) to 90 years (2–7 PVS). Men had more mesencephalic PVS (OR [95% CI] = 1.13 [1.08–1.18] compared with women), but less hippocampal PVS (0.82 [0.81–0.83]). Higher blood pressure, particularly diastolic pressure, was associated with more PVS in all regions (ORs between 1.04–1.05). Hippocampal PVS showed higher counts with higher high-density lipoprotein cholesterol levels (1.02 [1.01–1.02] ), glucose levels (1.02 [1.01–1.03]), and APOE ε4-alleles (1.02 [1.01–1.04]). Furthermore, white matter hyperintensity volume and presence of lacunes were associated with PVS in multiple regions, but most strongly with the basal ganglia (1.13 [1.12–1.14] and 1.10 [1.09–1.12], respectively). Discussion Various factors are associated with the burden of PVS, in part regionally specific, which points toward a multifactorial origin beyond what can be expected from PVS-related risk factor profiles. This study highlights the power of collaborative efforts in population neuroimaging research.
    Type of Medium: Online Resource
    ISSN: 0028-3878 , 1526-632X
    URL: Article
    DOI: 10.1212/WNL.0000000000201349
    RVK:
    XA 10000
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2023
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  • 10
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    Association of Bone Mineral Density and Dementia : The Rotterdam Study
    Ovid Technologies (Wolters Kluwer Health) ; 2023
    In:  Neurology Vol. 100, No. 20 ( 2023-05-16), p. e2125-e2133
    Details
    In: Neurology, Ovid Technologies (Wolters Kluwer Health), Vol. 100, No. 20 ( 2023-05-16), p. e2125-e2133
    Abstract: Low bone mineral density (BMD) and dementia commonly co-occur in older individuals, with bone loss accelerating in patients with dementia due to physical inactivity and poor nutrition. However, uncertainty persists over the extent to which bone loss already exists before onset of dementia. Therefore, we investigated how dementia risk was affected by BMD at various skeletal regions in community-dwelling older adults. Methods In a prospective population-based cohort study, BMD at the femoral neck, lumbar spine, and total body and the trabecular bone score (TBS) were obtained using dual-energy X-ray absorptiometry in 3,651 participants free from dementia between 2002 and 2005. Persons at risk of dementia were followed up until January 1, 2020. For analyses of the association between BMD at baseline and the risk of incident dementia, we used Cox proportional hazards regression analyses, adjusting for age, sex, educational attainment, physical activity, smoking status, body mass index, systolic and diastolic blood pressure, cholesterol level, high-density lipoprotein cholesterol, history of comorbidities (stroke and diabetes mellitus), and APOE genotype. Results Among the 3,651 participants (median age 72.3 ± 10.0 years, 57.9% women), 688 (18.8%) developed incident dementia during a median of 11.1 years, of whom 528 (76.7%) developed Alzheimer disease (AD). During the whole follow-up period, participants with lower BMD at the femoral neck (per SD decrease) were more likely to develop all-cause dementia (hazard ratio [HR] total follow-up 1.12, 95% CI 1.02–1.23) and AD (HR total follow-up 1.14, 95% CI 1.02–1.28). Within the first 10 years after baseline, the risk of dementia was greatest for groups with the lowest tertile of BMD (femoral neck BMD, HR 0–10 years 2.03; 95% CI 1.39–2.96; total body BMD, HR 0–10 years 1.42; 95% CI 1.01–2.02; and TBS, HR 0–10 years 1.59; 95% CI 1.11–2.28). Discussion In conclusion, participants with low femoral neck and total body BMD and low TBS were more likely to develop dementia. Further studies should focus on the predictive ability of BMD for dementia.
    Type of Medium: Online Resource
    ISSN: 0028-3878 , 1526-632X
    URL: Article
    DOI: 10.1212/WNL.0000000000207220
    RVK:
    XA 10000
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2023
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