Genetic Heritability of a Shallow Anterior Chamber in Chinese Families with Primary Angle Closure Glaucoma
Why this work is in the frame
A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.
Bibliographic record
Abstract
PURPOSE: To explore the genetic heritability of a shallow anterior chamber (AC) in families with primary angle closure glaucoma (PACG) and to provide a theoretical basis for the identification of candidate genes responsible for PACG. METHODS: Genetic analyses included familial and segregation analysis, tests for multifactorial inheritance and thresholds. The data was used to determine heritability. The relative risk rate and the possible genetic pattern of a shallow AC were examined in 114 pedigrees with PACG probands. RESULTS: The estimated heritability value of a familial shallow AC was 92.6% +/- 5.9%; the relative risk rate of a shallow AC was 7.91. The rate of affected female siblings to affected males was 2.87:1, which was statistically higher than that of affected male siblings (chi(2) = 9.75, P < 0.01). In two different mating types, the segregation ratios of U x U (parents unaffected) and U x A (one parent affected) were 0.11 and 0.426 respectively. The result of segregation analyses suggested that the genetic pattern of Ux U did not possess the characteristics of a monogenetic model and the genetic pattern of U x A exhibited autosomal dominant inheritance traits. CONCLUSIONS: We have shown that there is a higher heritability and a higher relative risk rate in the Chinese population of familial shallow ACs. The inheritance of a shallow AC may be a genetically heterogeneous trait and influenced by gender with autosomal dominant inheritance in subgroups. These results provide a theoretical basis for the identification of candidate genes responsible for Chinese PACG.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 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) | 0.000 | 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 it