Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.

@article{Manousaki2017LowFrequencySC,
  title={Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.},
  author={Despoina Manousaki and Tom Dudding and Simon Haworth and Y H Hsu and Ching-Ti Liu and Carolina Medina-Gomez and Trudy Voortman and Nathalie van der Velde and H{\aa}kan Melhus and Cassianne Robinson-Cohen and Diana L. Cousminer and Maria Nethander and Liesbeth Vandenput and Raymond Noordam and Vincenzo Forgetta and Celia M. T. Greenwood and Mary Lou Biggs and Bruce M. Psaty and Jerome I. Rotter and Babette S Zemel and Jonathan A. Mitchell and Bruce V Taylor and Mattias Lorentzon and Magnus K. Karlsson and Vincent W. V. Jaddoe and Henning Tiemeier and Natalia Campos-Obando and O. H. Franco and Andre G Utterlinden and Linda Broer and Natasja M. van Schoor and Annelies C. Ham and M. Arfan Ikram and David Karasik and Ren{\'e}e de Mutsert and Frits R Rosendaal and Martin den Heijer and Thomas J. Wang and Lars Lind and Eric S. Orwoll and Dennis Owen Mook-Kanamori and K Micha{\"e}lsson and Bryan R. Kestenbaum and C Ohlsson and D. D. Mellstr{\"o}m and Lisette C. P. G. M. de Groot and Struan F. A. Grant and Douglas P Kiel and M C Carola Zillikens and Fernando Rivadeneira and Stephen J Sawcer and Nicholas J. Timpson and J Brent Richards},
  journal={American journal of human genetics},
  year={2017},
  volume={101 2},
  pages={
          227-238
        }
}
Vitamin D insufficiency is common, correctable, and influenced by genetic factors, and it has been associated with risk of several diseases. We sought to identify low-frequency genetic variants that strongly increase the risk of vitamin D insufficiency and tested their effect on risk of multiple sclerosis, a disease influenced by low vitamin D concentrations. We used whole-genome sequencing data from 2,619 individuals through the UK10K program and deep-imputation data from 39,655 individuals… CONTINUE READING

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