ArticleJournal of endocrinological investigation2026
Evaluation of rare NR1D2 variants in MODY-X: clinical, genetic, and in silico insights.
Article in Journal of endocrinological investigation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe objective of this study was to investigate the protein-coding regions of the NR1D2 gene in patients clinically diagnosed with maturity-onset diabetes of the young (MODY), including those without pathogenic variants in known MODY genes (MODY-X), and to characterize the potential functional relevance of detected variants.
methodsThe variants present in the exons and adjacent intronic regions of the NR1D2 gene in patients with MODY were subjected to comparative analysis with those observed in healthy individuals and patients with type 2 diabetes mellitus. The maximum credible allele frequency was set to be 0.0001. The potential impact of rare variants was evaluated using variety in silico prediction tools, including PolyPhen-2, SIFT, MutationTaster2025, FATHMM-XF, REVEL, CADD, and DynaMut2.
resultsTwo extremely rare NR1D2 missense variants were identified in three MODY-X patients: p.I148V (rs148928938) in exon 4 and p.R286W (rs768518229) in exon 5, with allele frequencies of 74 per million and 3 per million in gnomAD, respectively. In silico predictions indicated a more consistent deleterious profile for p.I148V, whereas p.R286W demonstrated heterogeneous and predominantly benign or borderline predictions. The clinical manifestations exhibited by the carriers were found to be variable, which is consistent with the metabolic heterogeneity that is characteristic of MODY.
conclusionThe findings suggest that these variants may function as metabolic modifiers contributing to phenotypic variability in MODY-X. Prospective family-based studies and functional assays are needed to clarify their biological significance.
Indexed as
Identifiers
What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.