Association of DIAPH1 gene polymorphisms with ischemic stroke
DIAPH1 is a formin protein involved in actin polymerization with important roles in vascular remodeling and thrombosis. To investigate potential associations of single-nucleotide polymorphisms (SNPs) with hypertension and stroke, 2,012 patients with hypertension and 2,210 controls, 2,966 stroke case...
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Veröffentlicht in: | Aging (Albany, NY.) NY.), 2020-01, Vol.12 (1), p.416-435 |
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Sprache: | eng |
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Zusammenfassung: | DIAPH1 is a formin protein involved in actin polymerization with important roles in vascular remodeling and thrombosis. To investigate potential associations of
single-nucleotide polymorphisms (SNPs) with hypertension and stroke, 2,012 patients with hypertension and 2,210 controls, 2,966 stroke cases [2,212 ischemic stroke (IS), 754 hemorrhagic stroke (HS)] and 2,590 controls were enrolled respectively in the case-control study. A total of 4,098 individual were included in the cohort study.
mRNA expression was compared between 66 IS [43 small artery occlusion (SAO) and 23 large-artery atherosclerosis (LAA)] and 58 controls. Odds ratio (
), hazard ratio (
) and 95% confidence interval (
) were calculated by logistic and cox regression analysis. Rs7703688 T>C variation was significantly associated with an increased risk of IS [
(95%
) was 1.721 (1.486-1.993),
=4.139×10
]. Association of rs7703688 with stroke risk was further validated in the cohort study [adjusted
(95%
s) for additive and recessive models were 1.385 (1.001-1.918),
=0.049, and 2.882 (1.038-8.004),
=0.042, respectively)].
mRNA expression was significantly downregulated in IS. In SAO stroke subtype,
expression has an increased trend among rs251019 genotypes (
=0.048). These novel findings suggest that
variation contributes to genetic susceptibility to stroke risk, especially the SAO subtype of IS. |
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ISSN: | 1945-4589 1945-4589 |
DOI: | 10.18632/aging.102631 |