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Stroke genes

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Ischemic stroke has a multifactorial etiology, with genetic causes playing a significant role, particularly in early-onset cases. Various stroke classification systems based on genetic information have been proposed to correspond with different stroke phenotypes. While twin and family history studies, as well as candidate gene approaches, are commonly used to identify genetic causes of stroke, they have limitations. Genome-wide association studies and next generation sequencing are more efficient and increasingly used for daily diagnostics. Monogenic disorders, which account for only 7% of stroke etiology, can cause well-known clinical manifestations, including stroke. Polygenic disorders are more common, causing about 38% of all ischemic strokes, and identifying them is a rapidly developing field of modern stroke genetics. Advances in human genetics provide opportunities for personalized prevention and novel treatment possibilities. Genetic risk scores (GRS) and extended polygenic risk scores (PRS) estimate the cumulative contribution of known genetic factors to a specific stroke outcome.

Stroke caused by a blood clot that originates in the heart is known as cardioembolic stroke.

While there are several genes linked to AF recurrence, not all of them are also associated with stroke. The number of genes connecting AF and stroke that have been identified is limited. Two genes, PITX2 and ZFHX3, located in chromosomes 4q25 and 16q22, have been identified as significant risk factors for AF and CE stroke. Studies have shown that SNPs in PITX2 and ZFHX3 genes increase the risk of CE stroke by 36% and 25%, respectively. These genes have been repeatedly confirmed as significant risk factors for stroke, and two additional genes, ZNF566 and PDZK1IP1, have been added to the archive of stroke genes significantly associated with CES.

Stroke affecting a major artery.

Regarding the subtype of large artery stroke (LAS), there are notable discoveries. The primary variation within the 7p21 chromosome, situated near the HDAC9 gene, is linked to a 39% rise in LAS strokes. The exact mechanism of stroke risk remains unclear, but some hypotheses suggest atherosclerosis acceleration and changes in brain ischemic responses [53]. Another gene associated with LAS is CDKN2A/CDKN2B, located at 9p21, which increases the risk of ischemic stroke by 15%. Additionally, MMP12, which encodes matrix metalloproteinases and is part of the MMP genes cluster on chromosome 11, is a crucial gene for LAS. Interestingly, this gene is overexpressed in carotid plaques. The NINDS SiGN (National Institute of Neurological Disorders and Stroke Genetics Network) researchers identified a SNP at 1p13.2 near TSPAN2 that was linked to an increased LAS risk. Meanwhile, the TSPAN2 gene itself is associated with migraine and retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.

Disease of small vessels

Genetic risk factors can trigger two subtypes of lacunar stroke: isolated lacunar stroke and multiple lacunar stroke with leucoaraiosis. Several studies have identified distinct genetic mechanisms that elevate the risk of lacunar strokes, including impaired oxidative phosphorylation pathways and various single nucleotide polymorphisms. Some of these polymorphisms are situated in genes associated with Alzheimer's disease and intracerebral hemorrhage [52].

The CHARGE Consortium has reported that a locus near the FOXF2 gene on chromosome 6p25 has reached genome-wide significance for all stroke subtypes and white matter hyperintensity (WMH) burden. Additionally, a single nucleotide polymorphism within the 16q24.2 locus has been found to be associated with small-vessel stroke and WMH, but not with an increased risk of intracerebral hemorrhage. The locus appears to act through changes to regulatory elements, as evidenced by its associations with the expression of ZCCHC14 and DNA methylation. Furthermore, the SH2B3 gene at a 12q24 locus, originally linked to all ischemic stroke but not to any specific subtype, exceeded genome-wide significance in the meta-analysis of small artery stroke.

Near the FOXF2 (6p25) and ALDH2 (12q24) genes, variants linked to all types of strokes were discovered [56,63]. Additionally, a potential connection to various stroke subtypes exists at the 12p13 chromosome locus near the NINJ2 gene.

Follow the link of the selected polymorphism to read a brief description of how the selected polymorphism affects Stroke and see a list of existing studies.

SNP polymorphisms related to the topic Stroke:

rs6797312Twice the risk of stroke is higher in Caucasian women.
rs505922There is a 1.2-fold increased risk of pancreatic cancer.
rs6025The rs6025(A) allele encodes a mutation known as the Leiden mutation, R506Q, an 11.4-fold increased risk of venous thromboembolism.
rs599839The rs599839 polymorphism on chromosome 1p13.3 is associated with premature coronary heart disease.
rs556621The rs556621 variant on chromosome 6p21.1 is associated with large artery atherosclerotic stroke and ischaemic stroke.
rs2200733The rs2200733 variant on chromosome 4q25 is associated with risk of atrial fibrillation and ischaemic stroke.
rs10455872The rs10455872(G) allele of the LPA gene is associated with high levels of lipoprotein and elevated calcium in the aortic valve, coronary artery disease and coronary heart disease.
rs2230500SNP 1425G/A in PRKCH is associated with ischaemic stroke and cerebral haemorrhage.
rs11833579NINJ2 promoter polymorphism predicts risk of large artery atherosclerotic stroke.
rs12425791NINJ2 promoter polymorphism causes association with ischaemic stroke.
rs11984041HDAC9 variant associated with large vessel ischaemic stroke contributes to carotid atherosclerosis.
rs2107595HDAC9 Rs2107595 variant alters susceptibility to coronary heart disease and severity of coronary atherosclerosis.
rs1800801Gla rs1800801 matrix protein polymorphism is associated with ischaemic stroke recurrence.
rs12204590Genetic risk factor for ischaemic and haemorrhagic stroke.
rs879324Genetic risk factor for ischaemic and haemorrhagic stroke.
rs6843082Genetic risk factor for ischaemic and haemorrhagic stroke.
rs2084898
rs1401296
rs1364044
rs469568
rs12413409
rs173686
rs161802
rs3783799
rs74475935
rs635634
rs12438353
rs2219939
rs899997
rs783396
rs4471613
rs10744777
rs34311906
rs9351814
rs880315
rs42039
rs1333047
rs10757272
rs9899375
rs7859727
rs7283054
rs12936587
rs17612742
rs6841581
rs6842241
rs1937787
rs6825454
rs10400694
rs4959130
rs1333040
rs4932370
rs28688791
rs2383207
rs7771564
rs1804689
rs5752326
rs1333049
rs11681884
rs2229383
rs7156510
rs1564060
rs768606
rs12476527
rs10820405
rs2822388
rs11957829
rs12291066
rs2005108
rs34166160
rs4867766
rs6891174
rs7304841
rs2634071
rs2634074
rs13143308
rs6817105
rs1052053
rs2984613
rs4714955
rs11867415
rs704341
rs12449964
rs146390073
rs248812
rs2295786
rs72794386
rs16896398
rs16851055
rs8103309
rs1122608
rs781542
rs7705819
rs13407662
rs35436
rs13168506
rs7610618
rs2084637
rs9345396
rs12124533
rs12122341
rs17771318
rs7582720
rs12037987
rs12445022
rs7193343
rs12932445
rs72184
rs10507391
rs12190287
rs11556924
rs17114036
rs5443
rs2238151
rs579459
rs11672433
rs4076317
rs225132
rs7937106
rs1842681
rs2236406
rs13299556
rs114947355
rs142655108
rs115670077
rs72976591
rs184221467
rs138134155
rs77460585
rs114527838
rs6967981
rs112455974
rs565295967
rs140164788
rs115825287
rs192977447
rs55931441
rs113949028
rs181095590
rs73923591
rs12646447
rs4792143
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