ArticleMolecular genetics & genomic medicine2026
Analysis of Whole Exome Sequencing Results of Type 2 Diabetic Pedigree.
Article in Molecular genetics & genomic medicine, 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
5 authors.
Funding
Abstract
backgroundType 2 diabetes mellitus (T2DM) exhibits strong familial aggregation. This study aimed to identify potential pathogenic genes and mutation sites in a Chinese pedigree with a high prevalence of T2DM.
methodsA multigenerational family with 20 members, including 5 diagnosed with T2DM, was enrolled. The proband was a second-generation female with a 10-year disease history. Peripheral blood was collected, genomic DNA was extracted from blood cells, and whole exome sequencing was performed. Bioinformatic analysis, including KEGG pathway mapping, was used to screen candidate pathogenic variants.
resultsSequencing revealed 485 DNA variants, which were filtered to 16 high-priority mutations (15 SNPs and 1 Indel). Through literature review and functional pathway analysis, two heterozygous mutations-EPHX3 rs760409070 [c.778G>A, p.Glu260Lys] and FHOD1 rs142023201 [c.1493A>G, p.Asn498Ser]-were identified as candidate pathogenic variants. These two mutations were consistently present in all affected family members.
conclusionThe EPHX3 rs760409070 and FHOD1 rs142023201 mutations are likely contributing genetic factors to T2DM in this pedigree. Based on bioinformatic analysis, we hypothesize that these mutations may promote diabetes pathogenesis by reducing peripheral insulin sensitivity, impairing glucose uptake, suppressing glycogen synthesis, and enhancing gluconeogenesis.
Indexed as
Identifiers
What OpenQuestion 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 OpenQuestion graph.