IBMS BoneKEy | BoneKEy Watch
Vinayagamoorthy et al. Novel gene loci are associated with regulation of serum calcium
DOI:10.1038/bonekey.2015.136
In this genome-wide association study (GWAS), SNP arrays were used to discover novel loci that could play a role in regulating serum calcium levels. The GWAS was performed in an East Asian population consisting of 8642 unrelated Korean subjects; samples from 4558 people were used in the discovery stage and samples from 4093 additional subjects were used for replication.
The discovery stage revealed 963 potentially interesting SNPs, of which 105 were replicated in the second population group, and a joint analysis revealed that 65 SNPs showed a significant association with serum calcium. One in particular stood out and had the greatest significance—in the CASR gene coding for the calcium sensing receptor (P=3.85 × 10−8).
Three other novel loci were also highlighted by the GWAS—in the genes encoding cystatin A (CSTA), diacylglycerol kinase delta (DGKD) and the glucokinase regulatory protein (GCKR). All of the genes identified have been reported by previous studies to have a significant association with serum calcium levels in Indian and European populations.
Editor’s comment: Calcium is an intracellular messenger that has an important role in controlling bone and also muscle function. The confirmation of GWAS findings in East Asian subjects speaks for the universal role of the CASR and other genes in calcium regulation.
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