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. Author manuscript; available in PMC: 2020 Aug 13.
Published in final edited form as: JAMA Neurol. 2018 Oct 1;75(10):1273–1281. doi: 10.1001/jamaneurol.2018.1073

Table 1. Recent genetic studies of lacunar stroke (LS) and cerebral small vessel disease (cSVD).

SNP (single nucleotide polymorphism), GWAS (genome wide association study), WES (whole exome sequencing), ICH (intracerebral hemorrhage), WMH (white matter hyperintensity).

Study Type Related Gene Biomarker Studied SNP Locus
Single Gene43 COL4A1 LS, ICH rs515201 13q34
Single Gene44 COL4A2 LS, ICH rs4771674 13q34
Single Gene42 COL3A1 LS rs1800255 2q32.2
Single Gene44 HTRA1 LS, ICH rs79043147 10q26.13
Single Gene45 ACE LS rs464994 17q23.3
Single Gene46 MTHFR LS, WMH rs1801133 1p36.22
Single Gene47 APOE WMH rs429358 19q13.32
GWAS51 ZCCH14 LS, WHM rs12445022 16q24.2
GWAS52 TRIM65 WMH rs3744028 17q25
GWAS52 TRIM47 WMH rs1055129 17q25
GWAS52 PMF1 WMH rs1052053 1q22
GWAS53 SH3PXD2A WMH rs12357919 10q24.33
GWAS53 HAAO WMH rs11679640 2p21
GWAS53 PMF1-BGLAP WMH rs2984613 1q22
GWAS53 EFEMP1 WMH rs78857879 2p16.1
WES54 C1ORF156 Stroke rs1048177 1q24.2
WES54 XYLB Stroke rs17118 3p21.3
WES55 CSN3 LS N/A 4q13.3
WES55 HLA-DPB1 LS N/A 6p21.32
WES56 SH3TC1 WMH N/A 4p16.1