Genome-wide enrichment analysis between endometriosis and obesity-related traits reveals novel susceptibility loci

Endometriosis is a chronic inflammatory condition in women that results in pelvic pain and subfertility, and has been associated with decreased body mass index (BMI). Genetic variants contributing to the heritable component have started to emerge from genome-wide association studies (GWAS), although the majority remain unknown. Unexpectedly, we observed an intergenic locus on 7p15.2 that was genome-wide significantly associated with both endometriosis and fat distribution (waist-to-hip ratio adjusted for BMI; WHRadjBMI) in an independent meta-GWAS of European ancestry individuals. This led us to investigate the potential overlap in genetic variants underlying the aetiology of endometriosis, WHRadjBMI and BMI using GWAS data. Our analyses demonstrated significant enrichment of common variants between fat distribution and endometriosis (P = 3.7 x 10(-3)), which was stronger when we restricted the investigation to more severe (Stage B) cases (P = 4.5 x 10(-4)). However, no genetic enrichment was observed between endometriosis and BMI (P = 0.79). In addition to 7p15.2, we identify four more variants with statistically significant evidence of involvement in both endometriosis and WHRadjBMI (in/near KIFAP3, CAB39L, WNT4, GRB14); two of these, KIFAP3 and CAB39L, are novel associations for both traits. KIFAP3, WNT4 and 7p15.2 are associated with the WNT signalling pathway; formal pathway analysis confirmed a statistically significant (P = 6.41 x 10(-4)) overrepresentation of shared associations in developmental processes/WNT signalling between the two traits. Our results demonstrate an example of potential biological pleiotropy that was hitherto unknown, and represent an opportunity for functional follow-up of loci and further cross-phenotype comparisons to assess how fat distribution and endometriosis pathogenesis research fields can inform each other.

Breeding Low Chill high quality stonefruit

Breeding Low Chill high quality stonefruit.

A genome-wide association study of sleep habits and insomnia

Several aspects of sleep behavior such as timing, duration and quality have been demonstrated to be heritable. To identify common variants that influence sleep traits in the population, we conducted a genome-wide association study of six sleep phenotypes assessed by questionnaire in a sample of 2,323 individuals from the Australian Twin Registry. Genotyping was performed on the Illumina 317, 370, and 610K arrays and the SNPs in common between platforms were used to impute non-genotyped SNPs. We tested for association with more than 2,000,000 common polymorphisms across the genome. While no SNPs reached the genome-wide significance threshold, we identified a number of associations in plausible candidate genes. Most notably, a group of SNPs in the third intron of the CACNA1C gene ranked as most significant in the analysis of sleep latency (P = 1.3 x 10(-)(6)). We attempted to replicate this association in an independent sample from the Chronogen Consortium (n = 2,034), but found no evidence of association (P = 0.73). We have identified several other suggestive associations that await replication in an independent sample. We did not replicate the results from previous genome-wide analyses of self-reported sleep phenotypes after correction for multiple testing.

Male eating disorders and related traits : Genetic epidemiological study in Finnish twins

The aim of this study was to deepen the understanding of eating disorders, body image dissatisfaction and related traits in males by examining the epidemiology and genetic epidemiology of these conditions in representative population-based twin samples. The sample of Study I included adolescent twins from FinnTwin12 cohorts born 1983 87 and assessed by a questionnaire at ages 14 y (N=2070 boys, N=2062 girls) and 17 y (N=1857 boys, N=1984 girls). Samples of Studies II-V consisted of young adult twins born 1974-79 from FinnTwin16 cohorts (Study II N=1245 men, Study III N=724 men, Study IV N=2122 men, Study V N=2426 women and N=1962 men), who were assessed by a questionnaire at the age 22-28 y. In addition, 49 men and 526 women were assessed by a diagnostic interview. The overall response rates for both twin cohorts in all studies were 80-90%. In boys, mainly genetic factors (82%, 95% confidence interval [CI] 72-92) explained the covariation of self-esteem between the ages 14 y and 17 y, whereas in girls, environmental factors (69%, 95% CI 43-93) were the largest contributors. Of young men, 30% experienced high muscle dissatisfaction, while 12% used or had used muscle building supplements and/or anabolic steroids on a regular basis. Muscle dissatisfaction exhibited a robust association with the indicators of mental distress and a genetic component (42%, 95% CI 23-59) for its liability in this population was found. The variation of muscle-building substance use was primarily explained by the environmental factors. The incidence rate of anorexia nervosa in males for the age of 10-24 y was 15.7 (95% CI 6.6-37.8) per 100 000 person-years, and its lifetime prevalence by the young adulthood was 0.24% (95% CI 0.03-0.44). All detected probands with anorexia nervosa had recovered from eating disorders, but suffered from substantial psychiatric comorbidity, which manifested also in their co-twins. Additionally, male co-twins of the probands displayed significant dissatisfaction with body musculature, a male-specific feature of body dysmorphic disorder. All probands were from twin pairs discordant for eating disorders. Of the five male probands with anorexia nervosa, only one was from an opposite-sex twin pair. Among women from the opposite-sex pairs, the prevalence of DSM-IV or broad anorexia nervosa was no significantly different compared to that of the women from monozygotic pairs or from dizygotic same-sex pairs. The prevalence of DSM-IV or broad bulimia nervosa did not differ in opposite- versus same-sex female twin individuals either. In both sexes, the overall profile of indicators on eating disorders was rather similar between individuals from opposite-sex and same-sex pairs. In adolescence, development of self-esteem was differently regulated in boys compared to girls: this finding may have far-reaching implications on the etiology of sex discrepancy of internalizing and externalizing disorders. In young men, muscle dissatisfaction and muscle building supplement/steroid use were relatively common. Muscle dissatisfaction was associated with marked psychological distress such as symptoms of depression and disordered eating. Both genetic and environmental factors explained muscle dissatisfaction in the population, but environmental factors appeared to best explain the use of muscle-building substances. In this study, anorexia nervosa in boys and young men from the general population was more common, transient and accompanied by more substantial co-morbidity than previously thought. Co-twins of the probands with anorexia nervosa displayed significant psychopathology such as male specific symptoms of body dysmorphic disorder, but none of them had had an eating disorder: taken together, these traits are suggestive for an endophenotype of anorexia nervosa in males. Little evidence was found on that the risk for anorexia nervosa, bulimia nervosa, disordered eating or body dissatisfaction were associated with twin zygosity. Thus, it is unlikely that in utero femininization, masculinization or postnatal socialization according to the sex of the co-twin have a major influence on the later development of eating disorders or related traits.

Improving avocado fruit quality and market potential by pre and post harvest factors

Improving avocado fruit quality and market potential by pre and post harvest factors.

Improving the quality of kikuyu by reducing the lignin content

Development of improved pasture grass via chemical mutagenesis and selection of mutations in lignin genes.

A tilling approach to develop high quality tropical and sub-tropical pasture gra

This project aims to develop high quality kikuyu pasture grass via chemical mutagenesis, followed by screening for mutations in lignin biosynthesis genes.

Variety quality management in strawberry, using DNA genotyping as a tool

Quality management strawberry, DNA genotyping.

Impact of Stem Defect Agent Defects on Hardwood Wood Quality

Queensland's hardwood plantation industry is producing increasing volumes of sawlog, veneer and poles. Wood quality can sometimes be impaired in some plantation hardwoods when the growing trees are attacked by insect borers. Susceptibility to borer damage varies with the species as well as site conditions or location. The risk model developed from this project will enable the plantation industry to match tree species with appropriate growing conditions in Queensland.

Management of fruit quality and pest infestations of mango and mangosteen for Market access requirements

Management of fruit quality and pest infestations of mango and mangosteen for Market access requirements.

Improving fruit quality and profitability of 'Honey Gold' mango

Honey Gold mango is a new Australian variety owned by a Queensland company, and in high demand because of very good flavour and appearance. It develops under skin browning (USB) when grown in hot areas. It appears after packing and the fruit need to be re-sorted at the markets to remove affected fruit. Production and postharvest treatments will be developed to reduce USB and increase profitability. Other production and harvest factors causing quality loss will be also be identified through a commercial downgrade analysis program in the packhouse. Grower training will reduce downgrades and improve the percentage of fruit in premium grade.

ACIAR Improving Postrainy Sorghum Varieties Grain and Fodder in India

Sorghum grown in India in the post-rainy season (Rabi) relies on residual soil moisture, and the crop is commonly exposed to terminal drought stress. But there is a ready market for its high-quality grain and stover (used as fodder on dairy farms). Steps to improve productivity while maintaining quality offer an attractive opportunity for sorghum farmers to improve their incomes. Genetically improving the efficiency of using stored soil moisture is a prime target to maximise grain/stover production and quality of Rabi sorghum. This project aims to achieve this through the application of DNA sequences known as quantitative trait loci (QTLs). The project scientists will introduce marker-assisted introgression of stay-green QTLs into sorghum lines, enhancing both the quality and the quantity of grain/stover of postrainy sorghum. They will also use modelling to identify the key physiological traits involved in a higher, more stable yield across water-limited environments of India and Australia, and the key stay-green QTLs contributing to these traits. The publicly available QTL isolines lines developed in this project will be the basis of new varieties to be bred in a subsequent phase.

Agronomic Packages for Improved Yield and Quality in the Australian Peanut Industry

Monitoring aflatoxin and developing improved peanut drying practices, cadmium management and web based irrigation decision support systems.

Developing agronomic solutions to improve barley yield and grain quality

The main aim of this project is to develop variety management packages to help tailor commercial malt and feed barley production in the Northern GRDC Region to commercial malt and feed barley specifications. Field trials are designed to give information.

DAN00106 Developing agronomic solutions to improve barley yield and grain quality

Producing management packages for new northern barley varieties. Evaluating silage barley varieties.