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| 2. |
- Aragam, KG, et al.
(författare)
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Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants
- 2022
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 54:12, s. 1803-1815
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Tidskriftsartikel (refereegranskat)abstract
- The discovery of genetic loci associated with complex diseases has outpaced the elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide association study (GWAS) for coronary artery disease (CAD) comprising 181,522 cases among 1,165,690 participants of predominantly European ancestry. We detected 241 associations, including 30 new loci. Cross-ancestry meta-analysis with a Japanese GWAS yielded 38 additional new loci. We prioritized likely causal variants using functionally informed fine-mapping, yielding 42 associations with less than five variants in the 95% credible set. Similarity-based clustering suggested roles for early developmental processes, cell cycle signaling and vascular cell migration and proliferation in the pathogenesis of CAD. We prioritized 220 candidate causal genes, combining eight complementary approaches, including 123 supported by three or more approaches. Using CRISPR–Cas9, we experimentally validated the effect of an enhancer in MYO9B, which appears to mediate CAD risk by regulating vascular cell motility. Our analysis identifies and systematically characterizes >250 risk loci for CAD to inform experimental interrogation of putative causal mechanisms for CAD.
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| 3. |
- Aragam, KG, et al.
(författare)
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Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants
- 2022
-
Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 54:12, s. 1803-1815
-
Tidskriftsartikel (refereegranskat)abstract
- The discovery of genetic loci associated with complex diseases has outpaced the elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide association study (GWAS) for coronary artery disease (CAD) comprising 181,522 cases among 1,165,690 participants of predominantly European ancestry. We detected 241 associations, including 30 new loci. Cross-ancestry meta-analysis with a Japanese GWAS yielded 38 additional new loci. We prioritized likely causal variants using functionally informed fine-mapping, yielding 42 associations with less than five variants in the 95% credible set. Similarity-based clustering suggested roles for early developmental processes, cell cycle signaling and vascular cell migration and proliferation in the pathogenesis of CAD. We prioritized 220 candidate causal genes, combining eight complementary approaches, including 123 supported by three or more approaches. Using CRISPR–Cas9, we experimentally validated the effect of an enhancer in MYO9B, which appears to mediate CAD risk by regulating vascular cell motility. Our analysis identifies and systematically characterizes >250 risk loci for CAD to inform experimental interrogation of putative causal mechanisms for CAD.
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| 9. |
- Jacobson, JM, et al.
(författare)
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Multiple rapid automatic naming measures of cognition: Normal performance and effects of aging
- 2004
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Ingår i: Perceptual and Motor Skills. - 0031-5125 .- 1558-688X. ; 98:3, s. 739-753
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Tidskriftsartikel (refereegranskat)abstract
- Rapid automatic naming tasks are clinical tools for probing brain functions that underlie normal cognition. To compare performance for various stimuli in normal subjects and assess the effect of aging, we administered six single-dimension stimuli (color, form, number, letter, animal, and object) and five dual-dimension stimuli (color-form, color-number, color-letter, color-animal, and color-object) to 144 normal volunteers who ranged in age from 15 to 85 years. Rapid automatic naming times for letters and numbers were significantly less than for forms, animals, and objects. Rapid automatic naming times for color-number and color-letter stimuli were significantly less than for color-form, color-animal, or color-object stimuli. Age correlated significantly with rapid automatic naming time for each single-dimension stimulus and for color-form, color-number, color-animal, and color-object stimuli. Linear regression showed that rapid automatic naming times increased with age for aggregated color stimuli, aggregated single-dimension stimuli, and aggregated dual-dimension stimuli. This age effect persisted in subgroups less than 60 years of age and greater than 60 years of age. We conclude that normal performance time is dependent on the task, with letter and number stimuli eliciting most rapid responses, and that most rapid automatic naming times increase with age.
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| 10. |
- Nielsen, NP, et al.
(författare)
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Clinical utility of color-form naming in Alzheimer's disease: Preliminary evidence
- 2004
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Ingår i: Perceptual and Motor Skills. - 0031-5125 .- 1558-688X. ; 99:3, s. 1201-1204
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Tidskriftsartikel (refereegranskat)abstract
- Performances on Alzheimer's Quick Test color-form naming and Mini-Mental State Examination were compared for 38 adults with Alzheimer's disease and 38 age- and sex-matched normal controls. Group means differed significantly and indicated longer naming times by adults with Alzheimer's disease. The specificity for AQT color-form naming was 97% and sensitivity 97%, i.e., 3% false negatives. The specificity for Mini-Mental State Examination was 100% and sensitivity 84%, i.e., 16% false negatives. These findings, while supporting AQT color-form naming as a screening test for reductions in cognitive speed associated with Alzheimer's disease, are preliminary given the relatively small sample.
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