Principal Investigator: Dr Anna Murray
Department: Peninsula Medical School
Institution: University of Exeter
University of Exeter
Peninsula Medical School,
St Lukes, Magdalen Road
Exeter, EX1 2LU
We aim to shed light on the processes which govern female
reproduction throughout life.
Female reproductive life begins at puberty when women start menstruating and ends at menopause when a woman’s supply of eggs becomes exhausted. On average most women start menstruating at about 13 years old, a process called menarche and go through menopause at about 50 years. Both of these processes are controlled
jointly by genes and environmental factors. To date we have only identified a small proportion of the genetic influences and the environmental factors are not well understood. The length of
reproductive lifespan impacts many aspects of female health, particularly fertility, breast cancer risk and osteoporosis.
We aim to better understand the factors governing timing of menarche and menopause. In addition we will investigate the interaction of menopause risk factors and their impact on common diseases that have
been linked to age at menopause, eg. heart disease and cancer. The study requires access to data only from female participants. We intend to make a subsequent linked application for access to genetic data when
available. The long term impact of a better understanding of the processes that determine ovarian development and function may well lead to new methods of contraception, assisted fertility and fertility
We require full GWAS SNPs, including exomechip. Working with the ReproGen consortium we have various ongoing projects on female reproductive ageing, including a 1000 genomes imputed GWAS, X chromosome analysis and exomechip project.
These projects all build on our previous projects where we meta-analysed GWAS data from over 50 independent studies in ~180,000 females. We have published studies identifying 107 loci associated with age at menarche (Perry et al, Nature, in press) and 17 for age at menopause (Stolk et al, Nature Genetics, 2012). The aim of the ongoing projects is to identify novel variants for these traits including those at lower frequency that were poorly captured in previous studies. It is apparent from early exomechip studies in other traits, that very large sample sizes will be required to identify low frequency, large effect variants and thus we need to recruit as large a sample size as possible, particularly from large individual studies. Biobank is therefore an obvious cohort with a large sample size and extensive phenotype data that could contribute to the ReproGen efforts.