P1‐358: GRN GENOTYPE DISTRIBUTION IN DEMENTIA CLINICAL SYNDROMES AND ITS CORRELATION WITH COGNITIVE FUNCTION
Bibliographic record
Abstract
Rs5848, located in the 3′-UTR of PGRN gene (GRN), has been recognized as the most relevant polymorphism in PGRN gene associated with AD. but its role in different dementia syndromes remain controversial. Our study aimed to explore the relationship between GRN gene mutation and different kinds of dementia, and the correlation between the mutation of gene and the changing of cognitive function. 280 patients were recruited to have the cognitive function evaluation and genetic test at Peking Union Medical College Hospital from 2013 to 2016. 155 patients with AD, 29 patients with frontal temporal lobe degeneration, 21 patients with white matter disease and dementia and 38 normal control were included. The GRN genotype distribution were compared among patients groups and normal control. And the correlation between the GRN genotype and the neuropsychological performance ( including MMSE, MOCA, ADL, HADS anxiety, HADS depression and cognitive domains z score) were analyzed by the general liner model. GRN genotype distribution showed no different among dementia patients and normal control group. Furthermore the dementia patients were divided into subgroup according to age onset or different clinical syndromes. There was no difference on the GRN genotype distribution among all the subgroups of dementia. The correlation between the GRN genotype and the neuropsychological performance were analyzed in 57 AD patients. In the multivariate model, the interaction of GRN genotype and APOE e4 dose had effect on MMSE score (p=0.042). But after adjusted by age, gender and education, the interaction effect didn't show significance (p=0.148). And other analysis of the correlation between GRN genotype and neuropsychological performance didn't show statistically significance. There was no difference on GRN genotype distribution among dementia patients. GRN gene mutation had almost no effect on the cognitive function. This project was supported by grants from CAMS innovation fud for Medical Sciences (2016-I2M-1-004), National Natural Science Foundation of China(81550021) and 13 Five-year National Key Research and Development Program of China(2016YFC1306300).
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.003 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".