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Identification of novel genes associated with atherosclerosis in Bama miniature pig

Animal Models and Experimental Medicine 2024年第3期7卷 377-387页

作者： Dengfeng Ding Yuqiong Zhao Yunxiao Jia Miaomiao Niu Xuezhuang Li Xinou Zheng Hua Chen Laboratory Animal Center Chinese PLA General HospitalBeijingChina

Background:Atherosclerosis is a chronic cardiovascular disease of great ***,it is difficult to establish a direct connection between conventional small animal models and clinical *** pig's genome,physiology,and anatomy reflect human biology better than other laboratory animals,which is crucial for studying the pathogenesis of ***:We used whole-genome sequencing data from nine Bama minipigs to perform a genome-wide linkage analysis,and further used bioinformatic tools to filter and identify underlying candidate *** gene function prediction was performed using the online prediction tool STRING *** and immunofluorescence were used to detect the expression of proteins encoded by candidate ***:We mapped differential single nucleotide polymorphisms(SNPs)to genes and obtained a total of 102 differential genes,then we used GO and KEGG pathway enrichment analysis to identify four candidate genes,including SLA-1,SLA-2,SLA-3,and *** cause changes in the primary and tertiary structures of SLA-I and TAP2 proteins,the primary structures of these two proteins have undergone amino acid changes,and the tertiary structures also show slight *** addition,immunohistochemistry and immunofluorescence results showed that the expression changes of TAP2 protein in coronary arteries showed a trend of increasing from the middle layer to the inner ***:We have identified SLA-I and TAP2 as potential susceptibility genes of atherosclerosis,highlighting the importance of antigen processing and immune response in atherogenesis.

关键词： atherosclerosis candidate genes genome-wide linkage analysis major histocompatibility complex whole genome sequencing

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Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease

Identification of RNF213 as a Susceptibility Gene for Moyamo...

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2018环境与健康学术会议--精准环境健康：跨学科合作的挑战

作者： Yue Wang Qian Li Michael Mambiya Zhengshan Zhang Shan Liu Luping Yang Qian Zhang Mengwei Liu Kaili Zhang Lian Duan Wanyang Liu Department of Nutrition and Food Hygiene School of Public HealthChina Medical University Department of Neurosurgery 307HospitalPLA Center for Cerebral Vascular Disease

Objectives Moyamoya disease(MMD) is an idiopathic disorder characterized by occlusive lesions in the supraclinoid internal carotid artery and its main branches in the circle of *** studies have revealed several risk factors associated with MMD,including Asian ethnicity,female gender and a family history of the *** that 15%of moyamoya patients have a family history of the disease,genetic analysis of familial MMD has considerable potential to disclose *** previous studies have explored genetic factors and revealed four loci associated with MMD:3 p24-p26,6 q25,8 q23 and 17 q25,but the susceptibility gene is *** major aim of the present study was to identify the causative gene for familial and sporadic ***,to make our conclusion reliable and stable,a meta-analysis by us was conducted to address the association between the susceptibility gene and MMD *** We conducted genome-wide linkage analysis and exome analysis in eight three-generation families with *** analysis combined with association study was conducted to confirm that RNF213 p.R4810 K was the susceptibility gene for Chinese familial and sporadic ***,a meta-analysis including 1745 cases and 6175 controls were available to address the association between the RNF213 p.R4810 K and MMD susceptibility,the fixed-effects model was used to calculate the summary crude odds ratios(ORs) and corresponding 95%confidence intervals(CIs) in the dominant *** genome-wide linkage analysis revealed that linkage to 17 q25.3(Panalysis confirmed that RNF213 p.R4810 K was segregated in 18 of 47(38.30%) Chinese families with MMD.A case-control study(138 cases and 2903 controls) demonstrated strong association of p.R4810 K with MMD in Chinese population wi

关键词： Moyamoya disease RNF213 p.R4810K genome-wide linkage analysis Exome analysis

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