心源性卒中的遗传学研究进展

doi:10.16288/j.yczz.23-282

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

• Review • Previous Articles Next Articles

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 Online:2024-04-24 Published: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)

Abstract

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

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

Figures/Tables 3

Fig. 1

Table 1

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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]

Research progress on genetics in cardioembolic stroke

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