Genes Associated With Adult Cerebral Venous Thrombosis

Marjot, Thomas; Yadav, Sunaina; Hasan, Nazeeha; Bentley, Paul; Sharma, Pankaj

doi:10.1161/strokeaha.110.602672

Cited by 80 publications

(71 citation statements)

References 30 publications

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“…20 The potential associations between MTHFR genotype status and a number of medical complications have been evaluated using methodologies such as case-control, cohort, Mendelian randomization, and meta-analysis. A modest positive association has been found between the MTHFR "thermolabile" polymorphism and many different medical complications, including, but not limited to, thromboembolic disease (in non-North-American populations only), 21,22 stroke, [23][24][25][26][27] aneurysm, 28 peripheral artery disease, 29 migraine, 30 hypertension, 31,32 recurrent pregnancy loss, 33,34 male infertility, 35,36 risk for offspring with neural tube defects, 37,38 certain cancers, [39][40][41] neuropsychiatric disease, 42 and chemotherapy toxicity. 43,44 …”

mentioning

confidence: 99%

ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing

Hickey

Curry

Toriello

2013

Genetics in Medicine

134

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mentioning

confidence: 99%

ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing

Hickey

Curry

Toriello

2013

Genetics in Medicine

134

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“…21 In the same manner, rare mutations implicated in Mendelian forms of stroke, as well as maternally inherited mitrochondrial mutations, could contribute more than common SNPs to the occurrence of cerebrovascular events. 42,43 Thus, we speculate that incorporating these rarer variants in GRS, as well as other SNPs directly related to stroke or stroke subtypes, could substantially augment the prediction of a genetic score.…”

Section: Discussionmentioning

confidence: 99%

A genetic risk score for hypertension associates with the risk of ischemic stroke in a Swedish case–control study

et al. 2014

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Genetic risk scores (GRS), summing up the total effect of several single-nucleotide polymorphisms (SNPs) in genes associated with either coronary risk or cardiovascular risk factors, have been tested for association with ischemic stroke with conflicting results. Recently an association was found between a GRS based on 29 SNPs discovered by genome-wide association studies and hypertension. The aim of our study was to investigate the possible association of the same GRS with ischemic stroke on top of other 'traditional risk factors', also testing its potential improvement in indices of discrimination and reclassification, in a Swedish case-control study. Twenty-nine SNPs were genotyped in 3677 stroke cases and 2415 controls included in the Lund Stroke Register (LSR), the Malmö Diet and Cancer (MDC) study and the Sahlgrenska Academy Study on Ischemic Stroke (SAHLSIS). The analysis was conducted in the combined sample, and separately for the three studies. After adjustment for hypertension, diabetes mellitus and smoking habits, the GRS was associated with ischemic stroke in the combined sample (OR (95% CI) 1.086 (1.029-1.147) per SD increase in the GRS P = 0.003) with similar trends in all three samples: LSR (1.050 (0.967-1.140); P = 0.25), MDC (1.168 (1.060-1.288); P = 0.002) and SAHLSIS (1.124 (0.997-1.267); P = 0.055). Measures of risk discrimination and reclassification improved marginally using the GRS. A blood pressure GRS is independently associated with ischemic stroke risk in three Swedish case-control studies, however, the effect size is low and adds marginally to prediction of stroke on top of traditional risk factors including hypertension. INTRODUCTIONStroke is one of the leading causes of mortality, morbidity and disability worldwide. 1 Thanks to genome-wide association studies (GWAS), genetics of complex diseases has made dramatic steps forward in the last few years 2 but very few single-nucleotide polymorphisms (SNPs) have been invariantly associated with ischemic stroke. [3][4][5][6][7] Moreover, the relative risk conferred by individual genetic variants is usually low. Thus, in an attempt to estimate the aggregate effect of several gene variants, different genetic risk scores (GRS) have been constructed including a few studies on stroke with inconsistent results. [8][9][10][11][12][13][14][15] Interestingly, the selection of the SNPs to be included in GRS calculation have been based on different criteria: SNPs detected by GWAS either associated or not associated with known cardiovascular risk factors, as well as SNPs in candidate genes or pathways. [8][9][10][11][12][13][14][15] High blood pressure (BP) is the major risk factors for stroke and among the most important ones for other cardiovascular events. 16,17 Despite BP and hypertension being heritable traits, 18 the search for genetic variants associated with these traits has been more challenging compared with other cardiovascular risk factors. Only in recent years, GWAS have discovered several genetic variants which associate with BP-related ...

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“…Patients usually present with one or more of clinical conditions related to increased intracranial pressure. Considering this diagnosis in the right clinical context might prove life-saving while magnetic resonance imaging (MRI) with venography (MRV) confirms the diagnosis [2,3].…”

Section: Introductionmentioning

confidence: 98%

“…Despite extensive search, in about 13% of adult patients with CVST, no underlying risk factor could be found [3]. In the etiological investigations of a patient with CVST, a systematic search for prothrombotic conditions is warranted even in the presence of a clear precipitant such as the use of contraception, puerperium or infection.…”

Section: Introductionmentioning

confidence: 99%