New genetic links of disease

Image show the crystal structure of the ApoH protein, levels of which are linked to human disease; Image source: wikipedia
31 March 2016

Published in Nature Scientific Reports: Australian scientists have identified genetic variants that influence the levels of the bloodcirculating Apolipoprotein H (ApoH) - these are highly heritable and linked to cognitive ageing, Alzheimer’s disease, diabetes, and cardiovascular and autoimmune diseases.

The genome-wide association study analysed over 2 million individual genetic variants from more than 900 adult participants in the Sydney Memory and Ageing Study and the Older Australians Twins Study.

The researchers identified specific genetic variants located in or near the ApoH gene, and replicated results from an independent cohort of persons, the Hunter Community Study.

While their study is the largest of its kind to date, the authors acknowledge that their sample size was still relatively small, and they point out that with larger cohorts other genes may be found that may influence ApoH.

But they say that the work "lays the foundation to improve our understanding of the genetic regulation of ApoH levels and how such variation may contribute to chronic inflammatory disease, diabetes type 2, and age-related cognitive performance".

According to lead author Dr Karen Mather from the Centre for Healthy Brain Ageing (CHeBA) at the University of New South Wales, the research could lead to strategies that aim to reduce risk and prevent disease as well as to the development of novel treatments.

In addtion to UNSW, other contributing Australian organisations included: University of Newcastle, Murdoch University, Neuroscience Research Australia, Prince of Wales Hospital, the National Ageing Research Institute, the University of Melbourne and the University of Queensland.