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Scientists identify genes linking onset of puberty and body fat in women

An international team of scientists has uncovered 30 new genes that control the age at which girls reach sexual maturity. Furthermore, many of these genes are known to be involved in how the body metabolises fat. The findings could explain why some girls are more likely to go ...

An international team of scientists has uncovered 30 new genes that control the age at which girls reach sexual maturity. Furthermore, many of these genes are known to be involved in how the body metabolises fat. The findings could explain why some girls are more likely to go through puberty at a young age and may eventually help prevent some of the health issues associated with obesity. The study, which is published in the journal Nature Genetics, involved 175 researchers from over 100 institutions worldwide and was partly funded by the EU. Most girls go through puberty between 11 and 14 years of age. Nutritional status has a major influence on the age at which a girl is likely to start menstruating, with heavier children starting their periods at a younger age than lighter children. The issue is important as girls who experience puberty early face a greater risk of a wide range of health problems including breast cancer, endometrial cancer, obesity, type 2 diabetes and cardiovascular disease. However, the age of menarche (i.e. when menstruation starts) also has a genetic component; studies of twins and families suggest that 50% of the variation in menarche timing can be attributed to genetic factors. Scientists have already identified two genes associated with age at menarche. In this study, the team analysed 32 genome-wide association studies (GWAS) on over 87,000 women of European origin living in Europe, Australia and the US. They then confirmed their findings in a further study involving almost 15,000 women. In addition to the two known menarche genes, the study revealed 30 genes associated with the timing of menarche plus evidence for a further 10. Four of the newly-discovered genes have previously been found to be associated with body mass index (BMI), three have been implicated in energy homeostasis and three appear to be involved in hormonal regulation. 'It is interesting that several of the new genes for puberty timing have been linked in other studies to body weight gain and obesity,' commented the lead author of the paper, Cathy Elks of Medical Research Council (MRC) Epidemiology Unit in Cambridge, UK. 'This suggests that females in some families may inherit a joint genetic susceptibility to weight gain and early puberty.' 'We know that girls who are overweight are more likely to go through puberty at younger ages. Our findings tell us that being overweight and early puberty are intricately linked,' added Ken Ong, also of the MRC Epidemiology Unit. 'It is also important to understand that these "common genetic factors" can be modified by changes in lifestyle. If rates of childhood obesity continue to rise we will see many more girls reach puberty at young ages. Conversely, efforts to prevent or reduce childhood obesity will help avoid early puberty.' Looking to the future, the researchers note that functional studies of the new menarche genes may help clarify the biological mechanisms linking menarche with body weight. Additional studies are needed to see if these genetic variants are also found in other ethnic groups. EU support for the study came from several projects. ENGAGE ('European network for genetic and genomic epidemiology'), GEFOS ('Genetic factors for osteoporosis'), TREAT-OA ('Translational research in Europe applied technologies for osteoarthritis') and HYPERGENES ('European network for genetic-epidemiological studies: building a method to dissect complex genetic traits, using essential hypertension as a disease model') are all funded under the Health Theme of the Seventh Framework Programme (FP7). ECOGENE ('Unlocking the European Union convergence region potential in genetics') and OPENGENE ('Opening Estonian genome project for European research area') are supported under the 'Research potential' budget line of FP7, while the BBMRI ('Biobanking and biomolecular resources research infrastructure') project is financed under the Research Infrastructures programme of FP7. The GMI ('Genetics of mental illness') project is supported by the European Research Council (ERC) under FP7's Ideas Programme. EUROSPAN ('European special populations research network: quantifying and harnessing genetic variation for gene discovery') and DIABESITY ('Novel molecular drug targets for obesity and type 2 diabetes') clinched funding under the 'Life sciences, genomics and biotechnology for health' Thematic area of the Sixth Framework Programme (FP6), and GENOMEUTWIN ('Genome-wide analyses of European twin and population cohorts to identify genes in common diseases') was funded under the 'Quality of life and management of the living resources' Thematic programme of the Fifth Framework Programme (FP5).