Genetic link to vitamin D insufficiency

New research shows that genetic factors affect the risk of a person having vitamin D insufficiency. The research, which was jointly led by the Twin Research Unit at King’s College London and Harvard University, has been published online today and will also appear in an upcoming edition of The Lancet.

Vitamin D is crucial for maintenance of musculoskeletal health, and might also have a role in extraskeletal tissues. Determinants of circulating vitamin D concentrations include sun exposure and diet, but previous work showing clustering of low vitamin D concentrations within families and twins suggests that genetic factors also play a part. In this study, the authors aimed to identify common genetic variants affecting vitamin D concentrations and risk of insufficiency.

The authors did a genome-wide association study of almost 34,000 white people of European descent from 15 studies. A range of conventional techniques, including radioimmunoassay and mass spectrometry, were used to determine serum vitamin D concentrations. Vitamin D insufficiency was defined as concentrations lower than 75 nmol/L or 50 nmol/L.

Variants at three genetic sites or ‘loci’ were significantly associated with vitamin D concentrations. These loci were near genes involved in cholesterol synthesis, vitamin D metabolism, and vitamin D transport. Participants with a genotype score (combining the three confirmed variants) in the highest quartile (the 25 per cent at greatest risk) were at two-and-a-half times increased risk of having vitamin D concentrations lower than 75 nmol compared with those in the lowest quartile (the 25 per cent at lowest risk).

Preventing health risks

Professor Tim Spector, Director of the Twin Research Unit at King’s College London comments: ‘Previous research had suggested that genetic factors could play a part in vitamin D insufficiency, as vitamin D insufficiency showed a high heritability. Our study confirms this based on the finding of a genetic link to low vitamin D levels. The improved understanding of vitamin D regulation from our study could help to identify those within the white population who are most at risk of vitamin D insufficiency. Vitamin D plays an important role for our health, so knowing who is most at risk may help to prevent certain health risks through extra supplementation.’

In their article the authors point out that the study included only white individuals of European descent. Whether the genetic variants identified also affect vitamin D status in other racial or ethnic groups is unknown and requires further study.

Notes to editors

The article ‘Common genetic determinants of vitamin D insufficiency: a genome-wide association study’ by Professor Tim Spector, King’s College London; Dr Elina Hyppönen, UCL Institute of Child Health; and Dr Thomas J Wang, Massachusetts General Hospital can be found on The Lancet website (www.thelancet.com). The research was undertaken in collaboration with international colleagues from the SUNLIGHT (Study of Underlying Genetic Determinants of Vitamin D and Highly Related Traits) consortium. SUNLIGHT is the biggest genetic epidemiology consortium for vitamin D worldwide.

King’s College London

King’s College London is one of the top 25 universities in the world (Times Higher Education 2009) and the fourth oldest in England. A research-led university based in the heart of London, King’s has nearly 23,000 students (of whom more than 8,600 are graduate students) from nearly 140 countries, and some 5,500 employees. King’s is in the second phase of a £1 billion redevelopment programme which is transforming its estate.

King’s has an outstanding reputation for providing world-class teaching and cutting-edge research. In the 2008 Research Assessment Exercise for British universities, 23 departments were ranked in the top quartile of British universities; over half of our academic staff work in departments that are in the top 10 per cent in the UK in their field and can thus be classed as world leading. The College is in the top seven UK universities for research earnings and has an overall annual income of nearly £450 million.

King’s has a particularly distinguished reputation in the humanities, law, the sciences (including a wide range of health areas such as psychiatry, medicine and dentistry) and social sciences including international affairs. It has played a major role in many of the advances that have shaped modern life, such as the discovery of the structure of DNA and research that led to the development of radio, television, mobile phones and radar. It is the largest centre for the education of healthcare professionals in Europe; no university has more Medical Research Council Centres.

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Further information
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