Prevalence and Clinical Characteristics of PDX1 Variant Induced Diabetes in Chinese Early-Onset Type 2 Diabetes
Authors' conclusion
Our study suggested that MODY4 was prevalent in 0.59% of patients with EOD in a Chinese population. It was more difficult to identify clinically than other MODY subtypes owning to its clinical similarity to EOD. Also, this study revealed that there is some relationship between genotype and phenotype.
Study context
- Population
- Chinese patients clinically diagnosed with early-onset T2D (EOD)
- Participants
- 679 participants
- Outcome
- Prevalence of MODY4 (pathogenic or likely pathogenic PDX1 variant)
Methodological detailsgenetic screening by DNA sequencing, functional experiments, review of previously reported cases
- Genetic screening by DNA sequencing
- Functional experiments
- Review of previously reported cases
Main finding
As reported in the abstract
Patients with MODY4
4
Prevalence of MODY4 in EOD cohort
0.59%
Observational data: associations, not effects.
Further findings
Homeodomain variants vs Transactivation domain variants
Age at diagnosis, homeodomain vs transactivation domain variant carriers (with previously reported cases) · diagnosed earlier with homeodomain variants
P < 0.001
Missense vs Nonsense or frameshift
Overweight or obese, missense vs nonsense or frameshift mutations (with previously reported cases) · higher with missense
P = 0.031
Original publication
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