Key result
The combination of a single copy of TIMP1 and the TIMP3 risk allele rs11547635 significantly increased the risk for bicuspid aortic valve with thoracic aortic dilation in Turner syndrome (OR 12.86).
Why the study?
Does genetic variation in TIMP3 and hemizygosity of TIMP1 increase the risk of bicuspid aortic valve and aortopathy in patients with Turner syndrome?
Population
241 females with Turner syndrome. Key inclusion: Turner syndrome participants with whole exome sequencing…
Comparison
Presence of TIMP3 risk alleles and/or… vs Turner syndrome patients without the TIMP3 risk…
Design
Cohort
Authors
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May support TIMP-based risk stratification in Turner syndrome; hypothesis-generating and requires validation before clinical adoption.
Observational (n=241)
Yes
Does genetic variation in TIMP3 and hemizygosity of TIMP1 increase the risk of bicuspid aortic valve and aortopathy in patients with Turner syndrome?
Odds Ratio: 12.86 (95% CI 2.57–99.39)
Absolute Event Rate: 56.25% vs 9.09%
p-value: p=0.004
Hemizygosity of TIMP1 combined with TIMP3 risk alleles synergistically increases the risk of bicuspid aortic valve and aortopathy in Turner syndrome.
Corbitt et al. (2018) conducted an observational in Turner syndrome and aortopathy (n=241). Single copy of TIMP1 and TIMP3 risk allele (rs11547635) vs. >1 copy of TIMP1 and no TIMP3 risk allele was evaluated on Bicuspid aortic valve with thoracic aortic dilation (TAD) (OR 12.86, 95% CI 2.57-99.39, p=0.004). The combination of a single copy of TIMP1 and the TIMP3 risk allele rs11547635 significantly increased the risk for bicuspid aortic valve with thoracic aortic dilation in Turner syndrome (OR 12.86).
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