scholarly journals Genome-Wide Meta-Analysis for Serum Calcium Identifies Significantly Associated SNPs near the Calcium-Sensing Receptor (CASR) Gene

PLoS Genetics ◽  
2010 ◽  
Vol 6 (7) ◽  
pp. e1001035 ◽  
Author(s):  
Karen Kapur ◽  
Toby Johnson ◽  
Noam D. Beckmann ◽  
Joban Sehmi ◽  
Toshiko Tanaka ◽  
...  
Keyword(s):  
Serum Calcium ◽  
Meta Analysis ◽  
Calcium Sensing Receptor ◽  
Casr Gene ◽  
Calcium Sensing ◽  
Genome Wide

scholarly journals Association between calcium-sensing receptor (CaSR) R990G, CaSR A986S, and CaSR Q1011E gene polymorphisms and the risk of urolithiasis: a meta-analysis

2019 ◽  
Vol 21 (1) ◽  
Author(s):  
Besut Daryanto ◽  
Basuki Bambang Purnomo ◽  
Atma Gunawan ◽  
Fredo Tamara ◽  
Saga Aditya Hutama ◽  
...  
Keyword(s):  
Gene Polymorphisms ◽  
Meta Analysis ◽  
Random Effect ◽  
Random Effect Model ◽  
Group Analysis ◽  
Asian Population ◽  
Nucleotide Polymorphisms ◽  
Calcium Sensing Receptor ◽  
Casr Gene ◽  
Calcium Sensing

Abstract Backgrounds In the last two decades, studies have been widely carried out to assess the association between single-nucleotide polymorphisms (SNPs) of calcium-sensing receptor (CaSR) gene in exon 7 and the risk of urolithiasis. However, inconsistency across the studies was reported. Therefore, our current study aimed to perform a meta-analysis concerning the association between the risk of urolithiasis and the gene polymorphisms of CaSR R990G, CaSR A986S, and CaSR Q1011E. Methods Published papers from PubMed, Embase, Cohcrane, and Web of science were included for the study, and they were analyzed using fixed or random effect model. Results A total of 11 papers consisting of eight papers evaluating CaSR R990G, nine papers evaluating CaSR A986S, and five papers evaluating CaSR Q1011E were included in our analysis. Our pooled calculation found that protective effect against urolithiasis was observed in R allele and RR genotype of CaSR R990G and A allele and AA genotype of CaSR A986S. Conversely, increased susceptibility to urolithiasis was found in G allele and RG genotype of CaSR R990G and S allele of CaSR A986S. Interestingly, our findings in sub-group analysis confirmed that the correlation between CaSR R990G and urolithiasis was found in Caucasian population. Meanwhile, in Asian population, the association was observed in CaSR A986S. Conclusions CaSR R990G and CaSR A986S, but not CaSR Q1011E, are associated with the risk of urolithiasis.

scholarly journals A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Sachin K. Majumdar ◽  
Tess Jacob ◽  
Allen Bale ◽  
Allison Bailey ◽  
Jeffrey Kwon ◽  
...  
Keyword(s):  
Serum Calcium ◽  
Urinary Calcium ◽  
Urinary Calcium Excretion ◽  
Calcium Excretion ◽  
Familial Hypocalciuric Hypercalcemia ◽  
Calcium Sensing Receptor ◽  
Benign Condition ◽  
Casr Gene ◽  
Calcium Sensing ◽  
Novel Variant

Familial hypocalciuric hypercalcemia (FHH) is considered a relatively benign condition characterized by mild elevations in serum calcium and relatively low urinary calcium excretion. It results from an elevated set point in serum calcium arising from variants in the calcium-sensing receptor (CaSR) gene but also AP2S1 and GNA11 genes, which encode for adaptor-related protein complex 2 and G11 proteins, respectively. The manifestations of FHH can vary and sometimes overlap with primary hyperparathyroidism making the diagnosis challenging. Case Presentations. We report a mother and daughter with a novel heterozygous variant in the CaSR gene resulting in a serine to leucine substitution at position 147 (S147L) of the CaSR. Both patients had mild hypercalcemia, relatively low urinary calcium excretion, elevated calcitriol, and low-to-normal intact PTH. The proband (daughter) presented with symptoms associated with hypercalcemia and was incidentally found to have a bony lesion suspicious for osteitis fibrosa cystica, and she was also diagnosed with sarcoidosis. Subtotal parathyroidectomy revealed normal-weight parathyroid glands comprised of 50–80% parathyroid epithelial cells, which has been documented as within the spectrum of normal. Her mother had no symptoms, and no intervention was pursued. Conclusion. We report a novel variant in the CaSR associated with FHH in two patients with similar biochemical features yet differing clinical manifestations. While the relationship of the bony findings and parathyroid histology with this variant remains unclear, these cases enrich our knowledge of CaSR physiology and provide further examples of how varied the manifestations of FHH can be.

Identification of a novel calcium-sensing receptor (CASR) gene mutation in a patient with familial hypocalciuric hypercalcemia

2019 ◽  
Vol 493 ◽  
pp. S229
Author(s):  
M. Ortiz Espejo ◽  
R. Batanero Maguregui ◽  
C. Montalban Carrasco ◽  
L. Ramos Ramos ◽  
R. García Sardina ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Familial Hypocalciuric Hypercalcemia ◽  
Calcium Sensing Receptor ◽  
Casr Gene ◽  
Calcium Sensing

scholarly journals Hipocalcemia Crónica por Anticorpos Anti-Recetor do Cálcio

2014 ◽  
Vol 27 (3) ◽  
pp. 399
Author(s):  
Pedro Marques ◽  
Rita Santos ◽  
Branca Cavaco ◽  
Valeriano Leite
Keyword(s):  
Parathyroid Hormone ◽  
Genetic Disorder ◽  
Neck Surgery ◽  
Urinary Calcium ◽  
Clinical Report ◽  
Calcium Sensing Receptor ◽  
Casr Gene ◽  
Calcium Sensing ◽  
Calcium Phosphorus ◽  
Receptor Antibodies

<strong>Introduction:</strong> Hypoparathyroidism is an entity associated with hypocalcemia, more frequently a consequence of neck surgery. An autoimmune etiology is rare and its diagnosis difficult to establish.<br /><strong>Clinical report:</strong> 52 year-old woman, with irrelevant past medical history and no significant familial conditions, referred because of hypocalcemia and basal ganglia calcifications, detected in the course of investigation of myalgias. Besides hypocalcemia (4.6 mg/ dL), hyperphosphatemia (8.7 mg/dL), undetectable parathyroid hormone and low urinary calcium, phosphorus and magnesium were present. Molecular analysis of CaSR gene excluded germinal mutations. Anti-calcium sensing receptor antibodies (anti-CaSR) were present. The patient is asymptomatic and normocalcemic under treatment with calcium and vitamin D.<br /><strong>Discussion:</strong> Although rare, hypocalcemia due to anti-CaSR hypoparathyroidism must be considered in the absence of previous neck surgery, hypocalcemic drugs, familial history or phenotype suggesting a genetic disorder. Low or undetectable parathyroid hormone excludes pseudohypoparathyroidism and anti-CaSR positivity establishes the diagnosis.<br /><strong>Keywords:</strong> Hypocalcemia; Hypoparathyroidism; Autoantibodies; Receptors, Calcium-Sensing.

Neonatal Severe Hyperparathyroidism due to Compound Heterozygous Mutation of Calcium Sensing Receptor (CaSR) Gene Presenting as Encephalopathy

2014 ◽  
Vol 81 (11) ◽  
pp. 1228-1229 ◽  
Author(s):  
Abhishek Kulkarni ◽  
Mahesh Mohite ◽  
Ramaa Vijaykumar ◽  
Prasanna Bansode ◽  
Sachin Murade ◽  
...  
Keyword(s):  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Calcium Sensing Receptor ◽  
Casr Gene ◽  
Calcium Sensing

Association of common variants in the calcium-sensing receptor gene with serum calcium levels in East Asians

2015 ◽  
Vol 60 (8) ◽  
pp. 407-412 ◽  
Author(s):  
Nadimuthu Vinayagamoorthy ◽  
Seon-Hee Yim ◽  
Seung-Hyun Jung ◽  
Sung-Won Park ◽  
Young Jin Kim ◽  
...  
Keyword(s):  
Serum Calcium ◽  
Receptor Gene ◽  
Common Variants ◽  
Calcium Sensing Receptor ◽  
East Asians ◽  
Calcium Sensing ◽  
Calcium Sensing Receptor Gene

scholarly journals Identification and Functional Characterization of a Novel Mutation in the Calcium-Sensing Receptor Gene in Familial Hypocalciuric Hypercalcemia: Modulation of Clinical Severity by Vitamin D Status

2007 ◽  
Vol 92 (7) ◽  
pp. 2616-2623 ◽  
Author(s):  
Katerina Zajickova ◽  
Jana Vrbikova ◽  
Lucie Canaff ◽  
Peter D. Pawelek ◽  
David Goltzman ◽  
...  
Keyword(s):  
Vitamin D ◽  
Gene Mutation ◽  
Clinical Severity ◽  
Vitamin D Status ◽  
Familial Hypocalciuric Hypercalcemia ◽  
Calcium Sensing Receptor ◽  
Benign Condition ◽  
Casr Gene ◽  
Calcium Sensing ◽  
Serum Pth

Abstract Context: Familial hypocalciuric hypercalcemia (FHH) is a benign condition associated with heterogeneous inactivating mutations in the calcium-sensing receptor (CASR) gene. Objective: The objective of the study was to identify and characterize a CASR mutation in a moderately hypercalcemic, hyperparathyroid individual and his family and assess the influence of vitamin D status on the clinical expression of the defect. Subjects: We studied a kindred with FHH, in which the proband (a 34-yr-old male) was initially diagnosed with primary hyperparathyroidism due to frankly elevated serum PTH levels. Methods: CASR gene mutation analysis was performed on genomic DNA of the proband and family members. The mutant CASR was functionally characterized by transient transfection studies in kidney cells in vitro. Results: A novel heterozygous mutation (F180C, TTC&gt;TGC) in exon 4 of the CASR gene was identified. Although the mutant receptor was expressed normally at the cell surface, it was unresponsive with respect to intracellular signaling (MAPK activation) to increases in extracellular calcium concentrations. The baby daughter of the proband presented with neonatal hyperparathyroidism with markedly elevated PTH. Vitamin D supplementation of both the proband and the baby resulted in reduction of serum PTH levels to the normal range. The serum calcium level remained at a constant and moderately elevated level. Conclusion: The identification of a novel CASR gene mutation established the basis of the hypercalcemia in the kindred. Concomitant vitamin D deficiency modulates the severity of the presentation of FHH.

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