Vitamin D and genetics in MS
Sat 12.30 - 13.30 (H1)
Biography: Prof. George Ebers
Head of the Department of Clinical Neurology at the University of Oxford
Graduated from University of Toronto
undertaking postgraduate work at
Montreal, Cornell University, and
Rockefeller University. An active clinician
whose research interests are mainly in the
area of neurological genetics and MS.
The main research interests of
the Ebers Research group at the
Wellcome Trust Centre for Human
Genetics are to investigate complex
neurological diseases. It is hoped that
the investigation of the epidemiology,
genetics and environmental factors
involved in these diseases may provide
clues towards understanding the specific
disease processes and may one day
help in developing better treatments and
uality of life for individuals. He studies
large cohorts in order to understand
complex diseases thought to be caused
by changes in many genes, with each
individual gene having a small effect.
The study of several different diseases
allows the group to experience
different aspects of genetics’ studies.
Simultaneous study of epidemiology and
epigenetic causes of disease allows a
better understanding of the remaining
effect of genes, once other factors have
been removed from consideration.
His studies on the genetic epidemiology of MS have included the largest study of twins, and definition studies of adoptees, half siblings and many other types of families. His main interests at present are studying gene environment interactions in MS.
Abstract
For many years MS was thought to be an environmentally mediated disease and considerable effort was expended in trying to identify “the virus that causes MS”. Having all but exhausted the fruits of case control studies (where patients are compared to people who don’t have MS) attention turned to study of genes. This was pragmatic since the technologies became available to screen the entire genome quickly and accurately. These latter studies have identified at least 6 genes linked to MS all with small effect leaving the majority of genetic risk unexplained. This has caused refocus on the main genetic region for MS, namely the major histocompatility complex which has been known to be important for many years.
Using a series of sometimes novel genetic epidemiological studies particularly the use of twins, half-siblings, aunt-uncle-niece-nephew combinations and others, it is possible to infer a number of key features about MS. The first is that the environmental portion acts at a broad population level. Familial risk is determined by genes. The big remaining conceptual question was whether or not the environment and the genetics acted independently or influenced each other to affect the risk of developing MS.
Recent studies have shown clearly that the environment interacts with genes to influence the risk of developing MS and does so in two different ways. These will be discussed at the conference but one of these, surprisingly, throws up a specific environmental factor which had already been indicated from other directions, namely Vitamin D. The implications of these studies will be discussed as will the second way in which environment interacts with genes.
