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Association of CASZ1 genetic variants with stroke risk in the Chinese population
Fan Zhang1, Chuanyi Fu1, Yidong Deng1
1Department of Cerebrovascular disease, Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University), Haikou 570311, Hainan, China.
Insights
Certain CASZ1 gene variants, specifically rs4845941 and rs778228, are linked to increased stroke risk in the Chinese population, particularly in females. These findings offer insights for stroke prevention strategies.
Area of Science:
- Genetics and Genomics
- Cardiovascular Diseases
- Epidemiology
Background:
- Stroke is a major global health concern with diverse causes.
- Understanding genetic predispositions is crucial for stroke risk assessment.
- The role of CASZ1 gene variants in stroke susceptibility requires further investigation.
Purpose of the Study:
- To investigate the association between CASZ1 genetic variants and stroke risk.
- To analyze the interaction of CASZ1 polymorphisms in stroke susceptibility.
- To explore the functional implications of CASZ1 in stroke pathogenesis.
Main Methods:
- Genotyping of three CASZ1 single nucleotide polymorphisms (SNPs) using Agena MassARRAY.
- Logistic regression models to assess the relationship between CASZ1 SNPs and stroke risk.
- Multifactor dimensionality reduction (MDR) for interaction analysis and Metascape for functional enrichment.
Main Results:
- CASZ1 variants rs4845941 and rs778228 showed a significant association with increased stroke risk.
- rs778228 demonstrated a higher stroke risk association in females.
- Interaction analysis revealed potential predictive value for stroke risk.
Conclusions:
- CASZ1 genetic variants rs4845941 and rs778228 are significant contributors to stroke occurrence in the Chinese population.
- These findings have implications for the clinical treatment and prevention of stroke.
- Further research into CASZ1 and related genes may enhance stroke risk prediction.
Background:
Stroke is a heterogeneous disease with multiple etiologies, placing a heavy burden on the world. Our purpose was to clarify the association between CASZ1 genetic variants and stroke risk in the Chinese population.
Methods:
The Agena MassARRAY platform effectively genotyped three single nucleotide polymorphisms of CASZ1 in recruited 591 stroke patients and 553 healthy controls. Logistic regression genetic models were employed to evaluate the relationship between CASZ1 polymorphisms and stroke risk through odds ratios (ORs) and 95% confidence intervals (CIs). Then, the interaction between CASZ1 variants was detected by multifactor dimensionality reduction (MDR). Moreover, functional enrichment analyses of the CASZ1 gene were performed by Metascape.
Results:
In this study, CASZ1 rs4845941 and rs778228 were significantly associated with an increased risk of stroke. In particular, the gender-stratified analysis also showed that rs778228 of CASZ1 had an association with higher stroke risk in females. The relationship between stroke susceptibility and the interaction models of rs4845941, rs778228, and rs17035539 forecasted by MDR were analyzed to improve the ability to predict stroke risk. Furthermore, we found CASZ1 and related genes might facilitate the occurrence of stroke.
Conclusions:
This study demonstrated that CASZ1 genetic variants (rs4845941 and rs778228) contribute to the occurrence of stroke in the Chinese population, and therefore has important implications for treating and preventing stroke.
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