心源性卒中的遗传学研究进展

doi:10.16288/j.yczz.23-282

遗传 ›› 2024, Vol. 46 ›› Issue (5): 373-386.doi: 10.16288/j.yczz.23-282

心源性卒中的遗传学研究进展

唐恒磊¹(), 郑树涛¹, 李友²^,³(), 钟望涛¹^,³()

1.广东医科大学附属医院神经内科，湛江 524002
2.广东医科大学附属医院神经病学研究所，湛江 524002
3.广东省衰老相关心脑疾病重点实验室，湛江 524002

收稿日期:2024-01-03 修回日期:2024-03-28 出版日期:2024-04-24 发布日期:2024-04-24
通讯作者: 李友,钟望涛 E-mail:734435653@qq.com;youli805@163.com;zhongwangtao512@aliyun.com
作者简介:唐恒磊，硕士研究生，专业方向：神经病学。E-mail: 734435653@qq.com
基金资助:
国家自然科学基金项目(81571157);广东省自然科学基金面上项目(2023A1515012481)

Research progress on genetics in cardioembolic stroke

Henglei Tang¹(), Shutao Zheng¹, You Li²^,³(), Wangtao Zhong¹^,³()

1. Department of Neurology, Affiliated Hospital of Guangdong Medical University, Zhanjiang 524002, China
2. Institute of Neurology, Affiliated Hospital of Guangdong Medical University, Zhanjiang 524002, China
3. Guangdong Key Laboratory of Age-Related Cardiac and Cerebral Diseases, Zhanjiang 524002, China

Received:2024-01-03 Revised:2024-03-28 Published:2024-04-24 Online:2024-04-24
Contact: You Li, Wangtao Zhong E-mail:734435653@qq.com;youli805@163.com;zhongwangtao512@aliyun.com
Supported by:
National Natural Science Foundation of China(81571157);Guangdong Provincial Natural Science Foundation General Project(2023A1515012481)

摘要/Abstract

摘要：

心源性卒中是缺血性脑卒中的重要病因之一，表现出病情重、预后差和复发率高的特点。在遗传学研究中已经有相当多与心源性卒中相关的基因被鉴定，这些易感基因在疾病风险预测及危险因素评估的潜力也陆续被发掘。本文从全基因组关联研究、拷贝数变异研究、全基因组测序研究等方面综述了心源性卒中遗传学研究的相关进展，并介绍了其遗传数据集在多基因风险评分、孟德尔随机化的应用，旨在为将来深入研究心源性卒中的遗传发生机制提供借鉴和参考。

关键词: 脑卒中, 心源性卒中, 全基因组关联研究, 多基因风险评分, 孟德尔随机化

Abstract:

Cardioembolic stroke, characterized by severe illness, poor prognosis, and high recurrence rate, is one of the important causes of ischemic stroke. In the field of genetic research, numerous genes associated with cardioembolic stroke have been identified, and their potential in predicting disease risk and evaluating risk factors has been progressively explored. Here, we provide an overview of the latest advancements in genetics for cardioembolic stroke, including genome-wide association studies, copy number variation studies, whole-genome sequencing studies. Furthermore, we also summarize the application of genetic datasets in polygenic risk score and Mendelian randomization. The aim of this overview is to provide insights and references from multiple perspectives for future investigations on the genetic information for cardioembolic stroke.

Key words: stroke, cardioembolic stroke, genome-wide association study, polygenic risk score, Mendelian randomization

唐恒磊, 郑树涛, 李友, 钟望涛. 心源性卒中的遗传学研究进展[J]. 遗传, 2024, 46(5): 373-386.

Henglei Tang, Shutao Zheng, You Li, Wangtao Zhong. Research progress on genetics in cardioembolic stroke[J]. Hereditas(Beijing), 2024, 46(5): 373-386.

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基因	染色体位置	基因位点	卒中亚型	风险等位基因	人群	参考文献
PITX2	4q25	rs13143308	CES	T	多种人群	[6]
		rs6847935	AS、AIS、CES	T	多种人群	[9]
		rs2100192	CES	C	欧洲	[9]
		rs6847935	CES	T	欧洲	[9]
		rs11724242	CES	G	欧洲	[9]
		rs17042098	CES	A	欧洲	[10]
ZFHX3	16q22	rs12932445	CES	C	多种人群	[6]
		rs235917	AS、AIS、CES	A	多种人群	[9]
		rs2106261	CES	T	欧洲	[10]
ABO	9q34	rs635634	AIS、LAS、CES	T	多种人群	[6,9]
ABO	9q34	rs649129	AS、AIS、CES、LAS	T	多种人群	[9]
FGA	4q31	rs6825454	AIS	C	多种人群	[6]
FGA	4q31	rs6536024	AS、AIS、CES	C	多种人群	[9]
SH3PXD2A	10q24	rs2295786	AS、SVS	A	多种人群	[6]
		rs55983834	AIS、AS、CES、SVS	C	多种人群	[9]
		rs12415501	CES	T	欧洲	[9]
		rs1015037	CES	T	欧洲	[9]
NKX2-5	5q35	rs6891174	CES	A	多种人群	[6]
NKX2-5	5q35	rs6891790	CES	T	欧洲	[10]
RGS7	1q43	rs146390073	CES	T	欧洲	[6]
RWDD3	1p21.3	rs71654444	CES	A	印度	[8]
KLHDC4	16q24.2	rs9936995	CES	T	印度	[8]
PRRX1	1q24.2	rs680084	CES	G	多种人群	[9]
F11	4q35.2	rs4444878	CES、AIS	A	多种人群	[9]
DEFB1	8p23.1	rs2738158	CES	G	多种人群	[9]
TRIM36	5q22.3	rs4487484	CES	T	欧洲	[9]
RBM20	10q25.2	rs10749053	CES	T	欧洲	[9]
NCOR2	12q24.31	rs11057583	CES	A	欧洲	[9]
POLR2A	17p13.1	rs11078685	CES	C	欧洲	[9]
RPRML	17q21.32	rs2316757	AS、CES	A	欧洲	[9]
CAV1	7q31.2	rs3807989	CES	A	欧洲	[10]
ESR2	14q23.2	rs2738413	CES	A	欧洲	[10]
GORAB	1q24.2	rs680084	CES	A	欧洲	[10]
IGF1R	15q26.3	rs6598541	CES	A	欧洲	[10]
NEURL1	10q24.33	rs11598047	CES	A	欧洲	[10]
WIPF1	2q31.1	rs56181519	CES	T	欧洲	[10]
ZEB2	2q22.3	rs13010313	CES	T	欧洲	[10]
KIAA1755	20q11.23	rs3746471	CES	A	欧洲	[10]

CNV区域	类型	相关基因	参考文献
1p36.32-1p36.33	缺失	MIR6723、OR4F16、FAM87B、LINC00115、LINC01128、FAM41C、SAMD11、NOC2L、KLHL17、PLEKHN1、PERM1、HES4、ISG15、AGRN、RNF223、C1orf159、LINC01342、MIR200B、MIR200A、MIR429、TTLL10、TNFRSF18、TNFRSF4、SDF4、B3GALT6、FAM132A、UBE2J2、SCNN1D、ACAP3、MIR6726、PUSL1、INTS11、MIR6727、CPTP、TAS1R3、DVL1、MIR6808、MXRA8、AURKAIP1、CCNL2、LOC148413、MRPL20、ANKRD65、TMEM88B、LINC01770、VWA1、ATAD3C、ATAD3B、ATAD3A、TMEM240、SSU72、FNDC10、MIB2、MMP23B、CDK11B、SLC35E2B、MMP23A、CDK11A、SLC35E2、NADK、GNB1、CALML6、TMEM52、CFAP74、GABRD、PRKCZ、FAAP20、SKI	[26]
5p15.33	缺失	PLEKHG4B、LRRC14B、CCDC127、SDHA、HRAT5、PDCD6、AHRR、EXOC3-AS1、EXOC3、PP7080、SLC9A3、MIR4456、CEP72、TPPP、ZDHHC11、BRD9、TRIP13、NKD2、SLC12A7、MIR4635、CTD-3080P12.3、SLC6A19、SLC6A18、TERT、MIR4457、CLPTM1L、LINC01511、SLC6A3、LPCAT1、MIR6075、SDHAP3、MIR4277、MRPL36、NDUFS6、LINC02116、IRX4、CTD-2194D22.4	[26]
8q24.3	缺失	GPIHBP1、ZFP41、GLI4、MINCR、ZNF696、TOP1MT、RHPN1-AS1、RHPN1、MAFA-AS1、MAFA、ZC3H3、GSDMD	[26]
19p13.3	缺失	MOB3A、IZUMO4、AP3D1、DOT1L、PLEKHJ1、MIR1227、MIR6789、SF3A2、AMH、MIR4321、JSRP1、OAZ1、C19orf35、LINGO3、LSM7、SPPL2B、TMPRSS9、TIMM13、LMNB2、MIR7108、LINC01775、GADD45B、GNG7	[26]
14q11.2	扩增	TRAV38-2DV8、TRDC、TRDV3	[26]

心源性卒中的遗传学研究进展

Research progress on genetics in cardioembolic stroke

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