Genetic Variants linked to White Matter Abnormalities A world-first international genetics study co-led by Dr Karen Mather has identified genetic variants for two neuroimaging abnormalities – periventricular and deep white matter hyperintensities. The findings were published in Stroke. White matter hyperintensities are an age-related brain abnormality, commonly observed on neuroimaging scans of older adults, and begin to appear in approximately 50% of all adults in their mid-late 40s and progress with age.
The research assessed participants aged 45 years and older who were free of stroke and dementia. Genetic variants that were associated with both periventricular and deep white matter hyperintensities on chromosome 17 were found. Importantly, a number of other genetic variants were identified for periventricular white matter hyperintensities only, suggesting that these two neuroimaging measures have shared but also different genetic underpinnings.
A high burden of white matter hyperintensities has been associated with negative health outcomes, such as stroke. They are thought to be related to brain small vessel disease but the causal factors are still largely unknown. Traditionally, total white matter hyperintensity volume has been examined but it is also possible to distinguish between deep and periventricular white matter hyperintensities based on their location in the brain. These two categories are thought to reflect different pathological, physiological and functional differences. Genetics plays a significant role in the development of deep and periventricular white matter hyperintensities as shown in our own twin study, OATS, and by other family studies. In the first genome-wide association studies of these two categories, Dr Mather used data from over 26,000 participants from CHeBA’s Sydney Memory and Ageing Study and the Older Australian Twins Study, as well as international studies from the CHARGE and ENIGMA consortia and the UK Biobank.
Dr Mather said that a large genetics study such as this one provides further evidence that these subclassifications of white matter hyperintensity are two separate entities that may have different implications for brain health – and are therefore important neuroimaging measures to study. DOI: 10.1161/STROKEAHA.119.027544
CHeBA Promotion Congratulations to Dr Anbu Thalamuthu who in July 2020 was promoted to Senior Research Fellow.
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