Low Frequency Synonymous Coding Variation in CYP2R1 has Large Effects on Vitamin D Level and Risk of Multiple Sclerosis

Stephen Sawcer
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 increased 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 genome-wide genotyped individuals....
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