Shared genetics underlying epidemiological association between endometriosis and ovarian cancer

Epidemiological studies have demonstrated associations between endometriosis and certain histotypes of ovarian cancer, including clear cell, low-grade serous and endometrioid carcinomas. We aimed to determine whether the observed associations might be due to shared genetic aetiology. To address this, we used two endometriosis datasets genotyped on common arrays with full-genome coverage (3194 cases and 7060 controls) and a large ovarian cancer dataset genotyped on the customized Illumina Infinium iSelect (iCOGS) arrays (10 065 cases and 21 663 controls). Previous work has suggested that a large number of genetic variants contribute to endometriosis and ovarian cancer (all histotypes combined) susceptibility. Here, using the iCOGS data, we confirmed polygenic architecture for most histotypes of ovarian cancer. This led us to evaluate if the polygenic effects are shared across diseases. We found evidence for shared genetic risks between endometriosis and all histotypes of ovarian cancer, except for the intestinal mucinous type. Clear cell carcinoma showed the strongest genetic correlation with endometriosis (0.51, 95% CI = 0.18–0.84). Endometrioid and low-grade serous carcinomas had similar correlation coefficients (0.48, 95% CI = 0.07–0.89 and 0.40, 95% CI = 0.05–0.75, respectively). High-grade serous carcinoma, which often arises from the fallopian tubes, showed a weaker genetic correlation with endometriosis (0.25, 95% CI = 0.11–0.39), despite the absence of a known epidemiological association. These results suggest that the epidemiological association between endometriosis and ovarian adenocarcinoma may be attributable to shared genetic susceptibility loci.

Portrait of George Louis Wolff (Gerd Ludwig Wolff) holding a mouse in his genetics laboratory; Little Rock, Arkansas.

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Macadamia Modelling Scoping Study

Investigate the feasibility and utility of a macadamia physiological model.

Better Macadamia crop forecasting

Better Macadamia crop forecasting.

Living on the edge : Population genetics of Finno-Ugric-speaking humans in North Eurasia

The major aim of this thesis was to examine the origins and distribution of uniparental and autosomal genetic variation among the Finno-Ugric-speaking human populations living in Boreal and Arctic regions of North Eurasia. In more detail, I aimed to disentangle the underlying molecular and population genetic factors which have produced the patterns of uniparental and autosomal genetic diversity in these populations. Among Finno-Ugrics the genetic amalgamation and clinal distribution of West and East Eurasian gene pools were observed within uniparental markers. This admixture indicates that North Eurasia was colonized through Central Asia/ South Siberia by human groups already carrying both West and East Eurasian lineages. The complex combination of founder effects, gene flow and genetic drift underlying the genetic diversity of the Finno-Ugric- speaking populations were emphasized by low haplotype diversity within and among uniparental and biparental markers. A high prevalence of lactase persistence allele among the North Eurasian Finno- Ugric agriculturalist populations was also shown indicating a local adaptation to subsistence change with lactose rich diet. Moreover, the haplotype background of lactase persistence allele among the Finno- Ugric-speakers strongly suggested that the lactase persistence T-13910 mutation was introduced independently more than once to the North Eurasian gene pool. A significant difference in genetic diversity, haplotype structure and LD distribution within the cytochrome P450 CYP2C and CYP2D regions revealed the unique gene pool of the Finno-Ugric Saami created mainly by population genetic processes compared to other Europeans and sub-Saharan Mandenka population. From all studied populations the Saami showed also significantly the highest allele frequency of a CYP2C19 gene mutation causing variable drug reactions. The diversity patterns observed within CYP2C and CYP2D regions emphasize the strong effect of demographic history shaping genetic diversity and LD especially among such small and constant size populations as the Finno-Ugric-speaking Saami. Moreover, the increased LD in Saami due to genetic drift and/or admixture was shown to offer an advantage for further attempts to identify alleles associated to common complex pharmacogenetic traits.

Production of Macadamia Rootstock

Production of Macadamia Rootstock.

Towards the Development of a Functional-Structural model for Macadamia

Towards the Development of a Functional-Structural model for Macadamia.

Better Macadamia Crop Forecasting - Part 2

The continually expanding macadamia industry needs an accurate crop forecasting system to allow it to develop effective crop handling and marketing strategies, particularly when the industry faces recurring cycles of unsustainably high and low commodity prices. This project aims to provide the AMS with a robust, reliable predictive model of national crop volume within 10% of the actual crop by 1 April each year by factoring known seasonal, environmental, cultural, climatic, management and biological constraints, together with the existing AMS database which includes data on tree numbers, tree age, variety, location and previous season's production.

Improving information for the macadamia industry via an information "bank"

Macadamia growers are under increasing pressure to remain viable in an increasingly competitive global market. A key need is quick access to high quality information. Current industry information is poorly integrated, poorly updated, and because it is largely in hard-copy, is difficult to access efficiently. With the dramatic growth in the use of the internet by growers, as evidenced in a recent industry communications survey, an opportunity exists to address this problem through the development of a high quality, internet-based information “bank”. The bank would bring together the macadamia information resources and collective knowledge of R&D and other relevant agencies into a one-stop information shop, aligned more effectively with grower needs.

ACIAR Pacific Agribusiness Research for Development Initiative (PARDI)

PARDI provides a platform for stronger economic growth of Pacific island countries. The initiative aims to substantially improve the livelihoods of smallholder farmers in the Pacific. Benefit to Queensland includes: 1) looking at supply chain (value chain) innovations for tropical horticultural commodities in both Queensland and the South Pacific to maintain competitiveness. 2) undertaking research on a product called canarium nut which is grown in the Solomon Islands. It is a new potential high value speciality product (similar to macadamia) in which macadamia industry partners are participating. 3) involvement in specific targeted supply chain business improvement with industry partners.

Macadamia Regional Variety Trials Series 3 - Phase 2

Regional variety trials (RVT) established in 1983 and again in 1997 identified superior varieties for the macadamia industry. From the 1983 trials, guidelines were developed to assist growers to select the most appropriate new varieties for their particular orchards and many of these superior varieties have been enthusiastically adopted by industry. This is also being done for varieties in the 1997 trials. Many of the best cultivars have already been adopted by growers on the basis of annual reports of yield and quality. Industry development over the next 10 to 20 years will be largely dependent on new, superior varieties selected in these RVT5, including new selections from the macadamia industry breeding program.