Common and Rare DUOX Variants in Patients With Congenital Hypothyroidism: Case-control Study and Family-based Analysis
Authors' conclusion
Our research confirmed that DUOX variants are inherited in an autosomal recessive manner. We present a comprehensive spectrum of rare and common DUOX variants that provides more accurate insights into the pathogenesis of CH associated with DUOX.
Study context
- Population
- Patients with congenital hypothyroidism (CH) and their parents; healthy controls203 trios sequenced
- Comparison
- Patients with CH vs healthy controls
- Healthy controlsn = 439reference
- Outcome
- Genetic contribution of rare DUOX variants to CH
Methodological detailstargeted next-generation sequencing, transmission disequilibrium test
- Targeted next-generation sequencing
- Transmission disequilibrium test
Main finding
As reported in the abstract
Rare DUOX variants (overall)
16.3%
DUOX2
14.3%
DUOXA2
2.0%
Observational data: associations, not effects.
Further findings
Clinical phenotype of patients with rare DUOX variants
- Dyshormonogenesis; more likely transient CH with lower LT4 dose requirement
Common DUOX single nucleotide polymorphisms (SNPs) and CH risk (case-control and family-based)
- SNPs significantly associated with CH in both analyses
- 5
- Protective: DUOX1 rs16939752 C > T, DUOXA1 rs3784576 C > A
- Increased susceptibility: DUOX2 rs269868 A > G, rs2001616 A > G, DUOXA2 rs2252371 T > C
Original publication
Common and Rare DUOX Variants in Patients With Congenital Hypothyroidism: Case-control Study and Family-based Analysis. J Clin Endocrinol Metab. Published 24 February 2025. doi:10.
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