Common Variant of PDZK1, Adaptor Protein Gene of Urate Transporters, is Not Associated with Gout
Bibliographic record
Abstract
To the Editor: Gout, a multifactorial disease characterized by acute inflammatory arthritis, is caused as a consequence of hyperuricemia. Previous genetic studies have revealed that gout and serum uric acid (SUA) levels have associations with various genes such as ATP-binding cassette transporter, subfamily G, member 2 ( ABCG2/BCRP )1,2,3, glucose transporter 9 ( GLUT9/SLC2A9 )1, organic anion transporter 4 ( OAT4/SLC22A11 )1,4, monocarboxylate transporter 9 ( MCT9/SLC16A9 )1,5, and leukine-rich repeat-containing 16 A ( LRRC16A/CARMIL )1,6. PDZ domain containing 1 ( PDZK1 , also known as NHERF3 ) plays a pivotal role as a scaffolding protein that forms urate transportsome6,7,8,9 with URAT1, ABCG2, and OAT4 (Figure 1). A single-nucleotide polymorphism (SNP), rs12129861, was first reported to have an association between PDZK1 gene and SUA1, which was confirmed by a replication study10. Although the minor allele of rs12129861 is shown to decrease SUA1,10, to the best of our knowledge, no study to date has investigated its association with clinically defined patients with gout. Figure 1. Urate transportsome in the renal tubular cells. PDZK1 (also known as NHERF3) is a scaffolding protein that binds to several urate transporters such as URAT1, OAT4, and NPT1. As for ABCG2, the interaction with PDZK1 is shown to be weak (dotted line)9. … Address correspondence to Dr. H. Matsuo, Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, 3-2 Namiki, Tokorozawa, Saitama 359-8513, Japan. E-mail: hmatsuo{at}ndmc.ac.jp
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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 | 0.001 | 0.006 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.002 | 0.000 |
| Research integrity | 0.004 | 0.004 |
| Insufficient payload (model declined to judge) | 0.008 | 0.002 |
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".