Identification of CELSR1 as a susceptibility gene for ischemic stroke in Japanese individuals by a genome-wide association study

Yamada, Yoshiji; Fuku, Noriyuki; Tanaka, Masashi; Aoyagi, Yukitoshi; Sawabe, Motoji; Metoki, Norifumi; Yoshida, Hidemi; Satoh, Kei; Kato, Koichi; Watanabe, Soichi; Nozawa, Yoshinori; Hasegawa, Asako; Kojima, Toshio

doi:10.1016/j.atherosclerosis.2009.03.038

Cited by 93 publications

(72 citation statements)

References 22 publications

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“…This report constitutes the first replication study of the Yamada et al [1] GWAS and confirmed that CELSR1 is a stroke risk factor in a Portuguese IS case-control dataset. Interestingly, even though the characteristics of the Japanese and Portuguese cohorts, as well as the rs6007897 and rs4044210 frequencies, are very different (e.g.…”

Section: Discussionsupporting

confidence: 77%

“…SNPs rs6007897 and rs4044210 are associated with ischemic stroke in allelic, unadjusted and adjusted (for hypertension, diabetes, and ever smoking) genotypic tests of association (Table 2), with an odds ratio and 95%CI for the minor allele (A) of 0.76[0.61-0.94] and 0.78[0.63-0.96], respectively. As observed in the Japanese population (r 2 = 0.96) [1], these two SNPs were in very high, but not complete, linkage disequilibrium (LD) in our dataset (r 2 = 0.91). Furthermore, we also confirmed the association of the two most common haplotypes defined by these two polymorphisms ( Table 2).…”

Section: Resultssupporting

confidence: 72%

“…A combined analysis of our significant results and those of Yamada et al [1] in their complete dataset reveals a protective effect of the major allele A of rs6007897 (com- …”

Section: Resultssupporting

confidence: 63%

“…Several stroke GWAS have been published to date [1][2][3][4] and have led to the identification of potential IS risk genes. The most recent stroke GWAS [1] involved a total of 6341 Japanese individuals from three independent datasets.…”

Section: Introductionmentioning

confidence: 99%

“…The most recent stroke GWAS [1] involved a total of 6341 Japanese individuals from three independent datasets. This GWAS was performed in subject panel A (131 IS cases and 135 controls) and 100 SNPs were selected for further examination in subject panel B (705 IS cases and 3,426 controls).…”

Section: Introductionmentioning

confidence: 99%

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Replication of the CELSR1 association with ischemic stroke in a Portuguese case-control cohort

et al. 2011

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Section: Discussionsupporting

confidence: 77%

Section: Resultssupporting

confidence: 72%

“…A combined analysis of our significant results and those of Yamada et al [1] in their complete dataset reveals a protective effect of the major allele A of rs6007897 (com- …”

Section: Resultssupporting

confidence: 63%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Replication of the CELSR1 association with ischemic stroke in a Portuguese case-control cohort

et al. 2011

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Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry

et al. 2019

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Key Points Question Can rare genetic variants for Alzheimer disease be identified using nonstatistical approaches? Findings In this genetic association study, variants with high functional effect were observed in participants with Alzheimer disease but not in controls in NOTCH3 , a gene previously associated with cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), and TREM2 (Q33X) that in homozygous form causes Nasu-Hakola disease. Meaning Different mutations in the same gene or variable dose of a particular mutation may be associated with dissimilar types of dementia.

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Pooled genetic analysis reveals an association of snps of only a few genes with risk predisposition to ischemic stroke in a Chinese population

Zhang

Guo

et al. 2015

IUBMB Life

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Up to date, series of studies on ischemic stroke had resulted in inconsistent conclusion. In this study, we aimed to evaluate which specific genes were associated with increased predisposition to stroke in a Chinese population. To identify the specific genes and polymorphisms associated with predisposition to ischemic stroke, we performed high throughput sequenom based next-generation sequencing from 743 patient with history of ischemic stroke. Variants SNPs in nNOS, renalase, MTHFR, CELSR1 and XYLB genes were found significantly associated with IS, thus suggesting involvement of these loci to IS in Chinese patients. Because of different locations on chromosomes, haplotype analyses were not feasible. Our results demonstrate the top level genes that are related to normal vascular physiology, viz. genes of nitric oxide synthesis, endothelial health and smooth muscle biology. Further validation studies are awaited.

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Identification of CELSR1 as a susceptibility gene for ischemic stroke in Japanese individuals by a genome-wide association study

Cited by 93 publications

References 22 publications

Replication of the CELSR1 association with ischemic stroke in a Portuguese case-control cohort

Replication of the CELSR1 association with ischemic stroke in a Portuguese case-control cohort

Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry

Pooled genetic analysis reveals an association of snps of only a few genes with risk predisposition to ischemic stroke in a Chinese population

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