Functional Characterization of Polymorphic Variants in the Human Apical Sodium‐dependent Bile Acid Transporter (ASBT; SLC10A2)
Bibliographic record
Abstract
The apical sodium‐dependent bile acid transporter (ASBT) mediates the uptake of bile acids into intestinal enterocytes, supporting a critical role in normal bile acid homeostasis and maintenance of enterohepatic recirculation. Complete loss of function mutations in ASBT are associated with primary bile acid malaborption, characterized by diarrhea, steatorrhea, interruption of bile acid enterohepatic circulation, and reduced plasma cholesterol levels. We identified 6 nonsynonymous polymorphic variants within the exonic regions of the SLC10A2 gene from DNA derived from a large number of ethnically diverse healthy subjects. In general, variants tended to be infrequent and ethnic‐dependent; only one variant, 511GT (Ala171Ser), was found with a relatively common allele frequency (6.0%), in European‐Americans. A recombinant vaccinia‐based system was utilized to heterologously express wild‐type and variant ASBT variants in HeLa cells for functional studies using radiolabeled taurocholate as a substrate. Two variants, 292GA (Val98Ile) and 431GA (Cys144Tyr), were associated with significantly impaired taurocholate transport activity in vitro compared to wild‐type ASBT. Accordingly, polymorphisms in SLC10A2 may have important functional implications to normal bile acid homeostasis and enterohepatic recirculation. This work was supported in part by NIH grants GM54724 (RBK) and GM81363 (RHH).
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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 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 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) | 0.001 | 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".