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Genes associated with altered serum vitamin D levels in a Chinese population


To understand more about the genetic factors that determine serum 25-hydroxy vitamin D (25(OH)D) levels in the Chinese population, Zhang et al. screened 2897 unrelated healthy Chinese individuals using 96 single nucleotide polymorphism (SNP) markers within 15 genes known to be important in the vitamin D pathway.

The authors’ analysis showed that variants in the genes CYP2R1, GC and DHCR7/NADSYN1 were associated with a significant deviation in the serum concentrations of 25(OH)D compared to normal levels.

Several variants of GC and CYP2R1 were associated with lower than normal 25(OH)D levels. People who had three or four risk alleles within the genes GC and CYP2R1 were more likely to have low serum levels of 25(OH)D below 20 ng/ml. Each extra copy of a risk allele showed a significant association with a 0.12-fold drop in the log-25(OH)D concentration. Variants in the DHCR7/NADSYN1 gene appeared to be protective, as they were associated with higher serum levels of 25(OH)D.

Editor’s comment: The link between these three genes and serum 25(OH)D levels has also been identified in genome-wide association studies, most recently by Wang et al. In this study, the risk alleles in the GC-rs4588 and the CYP2R1-rs10766197 were associated with very low serum 25(OH)D levels. It is encouraging that the markers identified may be useful to study the genetic determinants of serum vitamin D in Asian populations.

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