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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
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KIF6 719Arg Genetic Variant and Risk for Thoracic Aortic Dissection
Olga A Iakoubova1, Carmen H Tong1, Joseph Catanese1
1Quest Diagnostics Research and Development, San Juan Capistrano, California, USA.
Aorta (Stamford, Conn.)
|January 19, 2017
Summary
The KIF6 719Arg genetic variant is associated with a two-fold increased risk of thoracic aortic dissection. This finding may improve the management of thoracic aortic diseases.
Area of Science:
- Genetics
- Cardiovascular Disease
- Aortic Diseases
Background:
- The KIF6 719Arg variant is linked to increased coronary heart disease (CHD) risk.
- Thoracic aortic dissection and aneurysm share risk factors with CHD.
Purpose of the Study:
- Investigate the association between KIF6 719Arg carrier status and thoracic aortic dissection.
- Examine the link between KIF6 719Arg carrier status and nondissection thoracic aortic aneurysm.
Main Methods:
- Genotyped 140 thoracic aortic dissection cases, 497 nondissection thoracic aortic aneurysm cases, and 275 controls.
- Used logistic regression adjusted for age, sex, hypertension, smoking, and country.
Main Results:
- KIF6 719Arg carriers had a two-fold greater odds of aortic dissection (OR 2.14).
- The association remained significant after excluding subjects with CHD (OR 2.04).
- No association was found between KIF6 719Arg carrier status and nondissection thoracic aortic aneurysm.
Conclusions:
- Observed a significant association between the KIF6 719Arg variant and thoracic aortic dissection.
- This genetic association may aid in managing patients with thoracic aortic disease.
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