Novel Insights Into the Genetics of Intracerebral Hemorrhage

17p12 Influences Hematoma Volume and Outcome in Spontaneous Intracerebral Hemorrhage

“…Additionally, several monogenic diseases that follow a Mendelian pattern of inheritance manifest clinically through ICH, including familial cerebral amyloid angiopathy and COL4A1 -related intracerebral hemorrhage 10 . Large association studies have also identified common mutations in APOE, PMF1 and COL4A1/COL4A2 10–12 that increase ICH risk with incomplete penetrance. Furthermore, mutations in genes related to blood pressure and lipid levels, two physiological pathways known to influence ICH occurrence, also modify the risk of ICH 13–15 .…”

Apolipoprotein E gene polymorphisms and intraventricular haemorrhage in infants born preterm: a large prospective multicentre cohort study

“…Finally, longterm follow-up data of infants stratified for APOE genotypes will be very important because adult data suggest that at least the APOE2 genotype is associated with poorer functional outcomes in adults with intracerebral haemorrhage. 28 We were able to confirm the most important genetic risk factor for adult intracerebral haemorrhage in preterm infant IVH, improving our understanding of the genetic contributions to IVH. These data support the view that APOE2 and APOE4 genotypes are relevant risk factors, not only for adult diseases such as lobar intracranial haemorrhage and Alzheimer disease but that they might also modify the development and course of early brain damage and long-term recovery in infants born preterm.…”

“…Furthermore, maternal APOE genotyping will be helpful in assessing possible antenatal risks of APOE . Finally, long‐term follow‐up data of infants stratified for APOE genotypes will be very important because adult data suggest that at least the APOE2 genotype is associated with poorer functional outcomes in adults with intracerebral haemorrhage …”

Genetics of Vascular Cognitive Impairment

“…(49) The AD-related locus, complement component receptor 1 (CR1), was reported to influence CAA-ICH incidence and recurrence while hypertension loci play no significant role in CAA-related intracerebral hemorrhage. (45) The association of CAA with cognition has been debated. Several studies suggest a link between CAA and dementia ( 50), but there have also been clinico-pathological studies like the Honolulu Asia Aging Study (51) in which CAA was associated with cognition only in the presence of AD, questioning the degree to which CAA makes a separate contribution to dementia.…”