Abstract Details

Title Rare Variants of RNF213 Are Related to Intracranial Atherosclerosis but Not to Extracranial Atherosclerosis: A Study in a Chinese Community-dwelling Population

Topic Cerebrovascular Disease and Interventional Neurology

Presentation(s) S6 - Stroke Pathophysiology and Prediction (3:42 PM-3:54 PM)

Poster/Presentation
Number 002

Background The relationship between Ring finger protein 213 (RNF213) rare variants and intracranial atherosclerosis (ICAS) remained unelucidated in general Chinese population.

Objective Using whole-exome sequencing (WES) and high-resolution magnetic resonance imaging (HR-MRI), this study aimed at investigating the association between RNF213 rare variants and ICAS within a Chinese community-dwelling population.

Design/Methods The present study included 821 participants from Shunyi cohort. Genetic data of RNF213 rare variants were acquired by WES and were categorized by functional domains. Intracranial and extracranial images were acquired by HR-MRI and carotid ultrasound, respectively. Logistic regression and generalized linear regression were applied to evaluate the effects of RNF213 rare variants on vascular imaging characteristics. Stratification by age were conducted with 50 years old set as the cutoff value.

Results Ninety-five participants were identified as carriers of RNF213 rare variants. Carotid plaques were observed in 367 (44.7%) participants, while ICAS was identified in 332 (40.4%). Rare variants of RNF213 was not associated with ECAS. Both the presence of rare variants (OR = 2.428, P = 0.024) and numerical count of variants (OR = 2.497, P = 0.015) were significantly associated with ICAS in the group of age ≤50 years. Employing HR-MRI, both variant existence (β = 0.218, P = 0.014) and count (β = 0.255, P = 0.003) were significantly correlated with numerical count of plaques in middle cerebral arteries within younger subgroup, rather than basilar arteries. Furthermore, a significant association was observed between variants that located outside the N-arm domain and ICAS in the younger subgroup (OR = 2.522, P = 0.030). Statistical results remained robust after adjusted for age, gender, and cardiovascular risk factors.

Conclusions Rare Variants of RNF213 is associated with age-related ICAS in general Chinese population, suggesting RNF213 might serve as potential rationales for ethnic difference of ICAS.

Authors/Disclosures
Jianxun Fang (Peking Union Medical College Hospital) PRESENTER	Mr. Fang has nothing to disclose.
Mingyu Tang (Peking Union Medical College Hospital)	No disclosure on file
Xinzhuang Yang	No disclosure on file
Fei Han	No disclosure on file
Lixin Zhou	Lixin Zhou has nothing to disclose.
Ming-Li Li	No disclosure on file
Yi-Cheng Zhu, MD, PhD (Peking Union Medical College Hospital)	Dr. Zhu has nothing to disclose.
Ming Yao	No disclosure on file
Jun Ni	No disclosure on file