rs112904272 - PTPRF
Magnitude 2.2 · 1 study on file
Reported associations
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Genome-wide association study of cerebral small vessel disease reveals established and novel loci. - Brain : a journal of neurology (2020) · Chung J, Marini S, Pera J, Norrving B, Jimenez-Conde J, Roquer J, Fernandez-Cadenas I, Tirschwell DL, Selim M, Brown DL, Silliman SL, Worrall BB, Meschia JF, Demel S, Greenberg SM, Slowik A, Lindgren A, Schmidt R, Traylor M, Sargurupremraj M, Tiedt S, Malik R, Debette S, Dichgans M, Langefeld CD, Woo D, Rosand J, Anderson CD · PubMed 31430377
Intracerebral haemorrhage and small vessel ischaemic stroke (SVS) are the most acute manifestations of cerebral small vessel disease, with no established preventive approaches beyond hypertension management. Combined genome-wide association study (GWAS) of these two correlated diseases may improve statistical power to detect novel genetic factors for cerebral small vessel disease, elucidating underlying disease mechanisms that may form the basis for future treatments. Because intracerebral haemorrhage location is an adequate surrogate for distinct histopathological variants of cerebral small vessel disease (lobar for cerebral amyloid angiopathy and non-lobar for arteriolosclerosis), we performed GWAS of intracerebral haemorrhage by location in 1813 subjects (755 lobar and 1005 non-lobar) a
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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intracerebral hemorrhage risk and prevention strategies Moderate
PTPRF rs112904272 associated with increased non-lobar intracerebral hemorrhage risk; variant modulates arterial tissue gene expression.
Screening
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blood pressure Moderate
PTPRF affects vascular tissue; hypertension is primary modifiable risk factor for intracerebral hemorrhage.
Regular blood pressure checks; target <130/80 mmHg.