The Genetic Epidemiology Laboratory seeks to identify the particular genes involved in complex disease etiology. To this end, QIMR Berghofer is a major partner in the Collaborative Research Centre (CRC) for Discovery of Genes for Common Human Diseases. The key resource for such advances to be possible is a large sample of pairs of relatives measured for their traits of interest. Studies conducted by QIMR Berghofer of more than 7,000 twin pairs over the past ten years provide just such a resource.
QTwin is a population-based registry of identical and non-identical twins of all ages born in, or living in, Queensland. Twins are playing an important role in the scientific and medical research and can help extend scientific understanding of what makes us human, the things that keep us well and the things that make us sick.
Senior Scientist: Professor Nicholas Martin
- Dr Michelle Lupton, Senior Research Officer
Interested in registering for twin research?
Complete List of Publications (Professor Nick Martin).
Some Classic Papers in Biometrical Genetics (eg. Jinks & Fulker, 1970).
Genetic Epidemiology Newsletter 2010 – NEW.
Go Directly to the Genetic Epidemiology Home Page.
The Genetic Epidemiology Group under Professor Nick Martin investigates the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems. The Genetic Epidemiology Group also has its own website at genepi.qimr.edu.au.
One focus of research is on the way melanoma runs in families. All familial cases and twins with melanoma diagnosed in Queensland and NSW from 1982-1990 have been identified. By obtaining detailed information on sun exposure, natural coloration and moliness in index cases and their relatives, a much better perspective of the role of genetic factors in melanoma is being gained. It is clear that moles (melanocytic naevi) are a major risk factor for melanoma. It is therefore important that we know more about the factors responsible for development and change of moles. In a study which has been jointly funded by the NHMRC and Queensland Cancer Fund, we are counting and mapping moles in over 600 pairs of Brisbane 12-year old twins and following them up at their 14th birthday. We have shown that individual differences in moliness in this sample are largely genetic and that much of this variation occurs at the familial melanoma locus on chromosome 9.
Alcohol consumption is associated with many medical and social variables. With support from both NHMRC and three large grants from the U.S. National Institute of Alcoholism and Alcohol Abuse, 5,000 pairs of twins and their relatives – 23,000 subjects in all – have been surveyed. We have conducted telephone interviews with over 11,000 twins and 4,000 of their spouses. Genetic factors account for about two thirds of the susceptibility to alcoholism in both women and men in Australia. We are now obtaining blood samples from these twins with a view to identifying particular genes which may predispose people to drinking problems. A major finding this past year is that the alcohol dehydrogenase gene complex on chromosome 4 has a significant effect on risk of alcoholism.
The new challenge in genetic epidemiology, made possible by recent advances in molecular biology and advances in automation and robotics, is to identify the particular genes involved in complex disease etiology. QIMR is a major partner in the CRC for Discovery of Genes for Common Human Diseases. The key resource for such advances to be possible is a large sample of pairs of relatives measured for the traits of interest. Studies conducted by QIMR of more than 7,000 twin pairs over the past ten years provide just such a resource.
We are embarking on projects to find major genes which may influence several important women’s health problems including endometriosis, the latter being a major risk factor for infertility. We are also interested in the genetics of super-fertility, as manifested in familial dizygotic twinning, and have genotyped 213 pairs of sisters who each have DZ twins, in order to find the genes responsible.
- Genetic analysis of migraine and comorbid psychiatric disorders using twin families
- Genetics of Male Pattern Baldness (MPB) as a potential risk factor for prostate cancer
- Genetic factors in anxiety, depression and fatigue
- Psychosocial factors in cancer proneness in ageing twins
- Osteoarthritis in ageing twins
- Asthma and allergy in Australian twins and their families
- The role of HFE polymorphisms in iron metabolism in Australian twins
- The role of ADH and ALDH polymorphism in alcohol sensitivity in humans
- Biology and molecular genetics of dizygotic twinning
- A twin study of blood cell numbers
- A twin study of mental abilities and cognitive performance
- A twin study of mole development in adolescence
- Genetics of alcohol and nicotine dependence
- Reconstructing the molecular events leading to Alzheimer’s disease with integrative ‘omics’ analyses of post-mortem brain tissue
- Genetic and environmental risk factors for Alzheimer’s disease and Cognitive Impairment
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