The TGFβ system and TIMP1 and 3 genotypes in Turner syndrome—Relation with aortic congenital malformations
Authors' conclusion
TGFβ and TIMP's are altered in TS and may play a role in the development of coarctation and dilated aorta. snp11547635 heterozygosity was not found to impact biochemical markers. Further studies should investigate these biomarkers to further unravel the pathogenesis of the increased cardiovascular risk in TS participants.
Study context
- Population
- Women with Turner syndrome and controls invited to MRI of the aorta, anthropometry and biochemical markers; study initiated in 2002, Turner syndrome (TS) re-examined thrice, lastly in 2016
- Participants
- 87 vs 64
- Exposure
- TS participants vs controls
- TSn = 87
- Controlsn = 64reference
- Outcome
- TGFβ, MMPs, TIMPs and genotype in relation to TS, cardiovascular risk and congenital heart disease
Methodological detailslongitudinal follow-up
- Longitudinal follow-up
Main finding
As reported in the abstract
- TS participants had lower TGFβ1 and TGFβ2 values vs controls
- snp11547635 heterozygosity not associated with any biomarkers but associated with increased risk of aortic regurgitation
- TIMP4 and TGFβ1 correlated with aortic diameter at several measuring positions
Observational data: associations, not effects.
Further findings
Antihypertensive treatment during follow-up in TS
- Antihypertensive treatment decreased descending aortic diameter and increased TGFβ1 and TGFβ2 levels in TS
Original publication
The TGFβ system and TIMP1 and 3 genotypes in Turner syndrome—Relation with aortic congenital malformations. Clin Endocrinol (Oxf). Published 15 March 2023. doi:10.
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