Half the Genetic Variance in Vitamin D Concentration is Shared with Skin Colour and Sun Exposure Genes
This study assessed the heritability of 25 hydroxyvitamin D3 (25(OH)D3) in a large twin cohort and the shared effect of sun exposure and skin colour on 25(OH)D3 variance. Study participants included 1604 twin pairs and their siblings (n = 4020). Twin correlations for 25(OH)D3 concentration were rMZ=0.79 (584 pairs) and rDZ = 0.52 (1020 pairs) consistent with an average h2 = 0.50 throughout the year. Significant phenotypic and genetic seasonal fluctuation was observed in 25(OH)D3 concentrations with heritability decreasing during the winter (h2 = 0.37) compared to summer (h2 = 0.62). Skin colour (measured both ordinally and quantitatively) and self-reported sun exposure were found to significantly affect 25(OH)D3 concentration. Twins with olive/dark skin had significantly lower 25(OH)D3 concentrations than those with fair/pale skin and multivariate genetic analysis showed that approximately half of the total additive genetic variation in 25(OH)D3 results from genes whose primary influence is on skin colour and sun exposure. Additionally, 37% of the total variance was attributed to shared environmental effects on vitamin D, skin colour and sun exposure measures. These results support a moderate estimate of vitamin D heritability and suggest significant influence of season, skin colour and sun exposure on the genetic variance.
KeywordsVitamin D Genetics Heritability Sun exposure Skin colour Twin
We would like to thank Kerrie McAloney, Natalie Garden and Simone Cross for sample collection and management. We also thank David Smyth and Scott Gordon for IT support. In particular, we thank the twins and their families for their participation in our research.
Funding for the collection of the adolescent samples was provided by the Australian National Health and Medical Research Council (241944, 339462, 389927, 389875, 389891, 389892, 389938, 442915, 442981, 496739, 552485, 552498, 1031119, 1049894). This project was further supported by NHMRC Project Grants (APP 1007677, APP 1099709) and a John Cade Fellowship (APP1056929). JM was supported by a Niels Bohr Professorship from the Danish National Research Foundation. All authors declare no conflict of interest. All procedures in this study were approved by the Human Research Ethics Committee of the QIMR Berghofer Medical Research Institute and were in compliance with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Legal guardians (as subjects were under the age of 18) gave written, informed consent prior to inclusion and testing for all participants.
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