rs1801725

This is a variant in the CASR gene that changes a alanine to an serine.

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GWAS Catalog Trait Associations (4)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

calcium measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.19
p —
N 325,659
Major Consortium StudyLarge GWAS
multi-ancestry
Young WJ et al. “Genetically Determined Serum Calcium Levels and Markers of Ventricular Repolarization: A Mendelian Randomization Study in the UK Biobank.” Circulation. Genomic and Precision Medicine 14(3):e003231 (2021)
Allele T
OR 0.07
p 9.0e-86
N 305,349
Major Consortium StudyLarge GWAS
European
O'Seaghdha CM et al. “Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.” Plos Genetics 9(9):e1003796 (2013)
Allele T
OR 0.07
p 9.0e-86
N 39,400
Meta-analysisLarge GWAS
European
Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele T
OR 0.23
p 1.0e-103
N 38,000
Large GWAS
South Asian
Kapur K et al. “Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene.” Plos Genetics 6(7):e1001035 (2010)
Allele T
OR 0.00
p 6.0e-37
N 12,865
Meta-analysisLarge GWAS
multi-ancestry

blood phosphate measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.08
p 5.0e-93
N 325,141
Major Consortium StudyLarge GWAS
multi-ancestry

phosphate measurement

Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele T
OR 0.08
p 2.0e-13
N 38,000
Large GWAS
South Asian

QT interval

Bihlmeyer NA et al. “ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals.” Circulation. Genomic and Precision Medicine 11(1):e001758 (2018)
Allele T
OR 0.58
p 4.0e-8
N 95,626
Large GWAS
multi-ancestry
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ClinVar annotation

Association★★★☆
1 submitter36 publications

Autosomal dominant hypocalcemia 1 (HYPOC1); Familial hypocalciuric hypercalcemia (FHH); Familial hypocalciuric hypercalcemia 1; Familial hypoparathyroidism; Malignant tumor of breast; Neonatal severe primary hyperparathyroidism; Nephrolithiasis/nephrocalcinosis; Serum calcium level; not specified

View on ClinVar →
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Research that mentions this SNP (1)

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CASR rs1801725 polymorphism is associated with the risk and prognosis of colorectal cancer: A case‐control study
AssociationN=927Yu‐E Diao et al.(2020)· Journal of Clinical Laboratory Analysis

This case-control study and meta-analysis examined the association of CASR rs1801725 polymorphism with colorectal cancer risk and prognosis. The study found that the TT genotype was associated with increased CRC risk (OR 1.92, P=0.042), with stronger effects in smokers and adults ≥60 years (OR 3.37). The variant was also associated with tumor size, TNM stage, lymph node metastasis, and worse survival. Meta-analysis confirmed a significant association in Asians (OR 1.28, P=0.041) but not in Caucasians or mixed populations.

Traits studied:CRCcolorectal cancer
PubMedDOIMetascience Observatory

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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