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Updated: Apr 19, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Coronary artery aneurysms occurrence risk analysis between Kawasaki disease and LRP1B gene in Taiwanese children
Ying-Ju Lin1, Xiang Liu2, Jeng-Sheng Chang3
1Department of Medical Research, China Medical University Hospital, Taichung, Taiwan ; School of Chinese Medicine, China Medical University, Taichung, Taiwan.
Insights
Genetic variations in the LRP1B gene are linked to coronary artery aneurysms (CAA) in children with Kawasaki disease (KD). This finding may aid in diagnosing and predicting CAA development in KD patients.
Area of Science:
- Cardiovascular Research
- Genetics
- Pediatric Immunology
Background:
- Kawasaki disease (KD) is a critical childhood vasculitis.
- Coronary artery aneurysms (CAA) are a leading cause of acquired pediatric cardiovascular disease, often stemming from KD.
- Low-density lipoprotein receptor-related protein 1B (LRP1B) plays a role in coronary artery inflammation.
Purpose of the Study:
- To investigate the association between LRP1B genetic variations and CAA formation in Kawasaki disease.
- To determine if LRP1B influences the risk of developing CAA in KD patients.
Main Methods:
- A cohort study involving 258 Taiwanese KD patients (83 with CAA, 175 without).
- Analysis of genetic variations within the LRP1B gene, specifically rs6707826.
- Univariate and multivariate regression analyses were employed to assess associations.
Main Results:
- A significant association was found between CAA formation in KD and the LRP1B genetic variant rs6707826 (p = 0.007).
- Multivariate analysis revealed a correlation between KD with CAA and TT+TG genotypes of LRP1B rs6707826 (OR = 2.82; 95% CI = 1.33-5.78).
Conclusions:
- Polymorphisms in the LRP1B gene may serve as a diagnostic and prognostic marker for CAA in Kawasaki disease.
- These findings contribute to genetic profiling for personalized medicine approaches in KD management.
Abstract:
Background: Kawasaki disease (KD) is an acute and systemic vasculitis. Its complications in coronary artery aneurysms (CAA) make KD one of the leading causes of acquired cardiovascular diseases in childhood. Low density lipoprotein receptor-related protein 1B (LRP1B) is abundantly expressed in the medial layer of coronary arteries and involved in endothelium inflammations. Purpose: We aimed to identify the role of LRP1B in CAA formation during KD progression. Methods: we investigated genetic variations in LRP1B in a Taiwanese cohort of 258 KD patients (83 with CAA and 175 without CAA complications). We used univariate and multivariate regression analyses to identify the associations between LRP1B genetic variations and KD patients. Results: CAA formation in KD was significantly associated with the LRP1B (rs6707826) genetic variant (p = 0.007). By using multivariate regression analysis, significant correlations were observed between KD with CAA complications and the presence of the TT+TG genotypes for the LRP1B rs6707826 single-nucleotide polymorphism (full model: odds ratio = 2.82; 95% CI = 1.33-5.78). Conclusion: Our results suggest that genetic polymorphism of LRP1B gene may be used as a genetic marker for the diagnosis and prognosis of the CAA formation in KD and contribute to genetic profiling studies for personalized medicine.
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