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Genetic and environmental factors in the aetiology of hypospadias

The increasing use of assisted reproductive techniques and hormonal manipulation during pregnancy may have been associated with an apparent rise in the...

First genome-wide association study in an Australian Aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes

A body mass index (BMI) >22kg/m2 is a risk factor for type 2 diabetes (T2D) in Aboriginal Australians.

Folate pathway gene polymorphisms, maternal folic acid use, and risk of childhood acute lymphoblastic leukaemia

Several studies suggest that maternal folic acid supplementation before or during pregnancy protects against childhood acute lymphoblastic leukaemia (ALL).

Comparative analysis of the full genome of Helicobacter pylori isolate sahul64 identifies genes of high divergence

Genome sequence of Sahul64, an H. pylori strain isolated from an indigenous Australian

Prevalence and risk factors for parent-reported recurrent otitis media during early childhood

The objective was to describe the prevalence and risk factors of recurrent otitis media (rOM) in an urban Australian population at 3 years of age.

Comparison of Methods to Account for Relatedness in Genome-Wide Association Studies with Family-Based Data

Here we compare the performance of several LMM approaches (and software implementations, including EMMAX, GenABEL, FaST-LMM, Mendel, GEMMA and MMM) via their...

Genetic and functional evidence for a locus controlling otitis media at chromosome 10q26.3

Otitis media (OM) is a common childhood disease characterised by middle ear effusion and inflammation.

Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus

We found a novel association between intraocular pressure and a common variant at 7p21 near to GLCCI1 and ICA1.

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

Common genetic variation has an important role in the etiology of schizophrenia, and larger studies will allow more detailed understanding of this disorder.

Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis

A conditional analysis provided evidence for multiple associations within the HLA-DRB1-HLA-DQA1 region,and a model in which risk differed between three...