rs6799828
This variant is located in the CASR gene.
▶Research that mentions this SNP (1)
▶Genetic variations in vitamin D-related pathways and breast cancer risk in African American women in the AMBER consortiumAssociationN=8,350Song Yao et al.(2016)· International Journal of Cancer
A case-control study of 3,663 African American women with breast cancer and 4,687 controls from the AMBER consortium examined associations between vitamin D-related genetic variants and breast cancer risk. The study identified several variants in genes including CASR, ERCC6, DDB2, and REV1 associated with breast cancer risk overall and by estrogen receptor status. Notable findings include rs9308822 (REV1, OR=0.86, p=1.1×10⁻⁴) for overall breast cancer, rs114723899 (ERCC6, OR=0.62, p=4.3×10⁻⁵) for ER+ breast cancer, and rs112594756 (CASR, OR=1.27, p=7.3×10⁻⁵) associated with ER-negative disease.
About CASR
The protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intracellular signaling pathways that modify parathyroid hormone secretion or renal cation handling, and thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene are a cause of familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. [provided by RefSeq, Aug 2017]
View all CASR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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