GEE-UGI Joint Seminar - Professor Nick Martin, QIMR Berghofer Medical Research Institute

Academic Host: Karoline Kuchenbaecker
Abstract: Finding genes for depression and response to medication could lead to improved treatments. Using PBS prescription data augmented by a media blitz we have recently recruited >20,000 depression cases, mainly severe, and have genotyped >16,000 of them. Using >12,000 controls from the Qskin study we have performed GWAS and meta-analysing with existing data have identified >30 new SNPs and >60 new genes influencing predisposition to depression. Our results vindicate our strategy of targeted recruitment of severe cases. We have gathered extensive data on efficacy and side effects of antidepressants and early results will be reported.
Nonidentical (dizygotic, FZ) twinning runs in families and finding the underlying genes will illuminate the regulation of female fertility and may suggest new treatments for infertility. Our QIMR studies have contributed DNA on >3000 mothers of DZ twins towards a worldwide total of 9000 and GWAS has identified up to ten genes predisposing to DZ twinning, most with obvious function in reproduction.
Identical (monozygotic, MZ) twinning on the other hand does not run in families and its aetiology is a complete puzzle. We have carried out an epigenetic (methylation) wide association scan comparing MZ twins and controls and have found numerous strong signals, concentrated near telomeres and centromeres, which have been tightly replicated in four independent studies. Several pathways involved in embryo cohesion are implicated. An algorithm using the strongest methylation signals has been developed that could be useful in exploring the aetiology of certain birth defects with strong links to MZ twinning e.g. spina bifida, Beckwith-Wiedemann syndrome.