CASR c.1378-1412A>G

Variant ID: 3-121993247-A-G

NM_000388.3(CASR):c.1378-1412A>G

This variant was identified in 33 publications

View GRCh38 version.




Publications:


Personalized nutrition: A review of genotype-based nutritional supplementation.

Frontiers In Nutrition
Wang, Feijie F; Zheng, Jianheng J; Cheng, Junrui J; Zou, Hong H; Li, Mingfeng M; Deng, Bin B; Luo, Rong R; Wang, Feng F; Huang, Dingqiang D; Li, Gang G; Zhang, Rao R; Ding, Xin X; Li, Yuan Y; Du, Jun J; Yang, Yuexin Y; Kan, Juntao J
Publication Date: 2022

Variant appearance in text: rs17251221
PubMed Link: 36159456
Variant Present in the following documents:
  • Main text
  • fnut-09-992986.pdf
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Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis.

Bmc Medical Genomics
Ullah, Ihsan I; Ottlewski, Isabel I; Shehzad, Wasim W; Riaz, Amjad A; Ijaz, Sadaqat S; Tufail, Asad A; Ammara, Hafiza H; Mane, Shrikant S; Shril, Shirlee S; Hildebrandt, Friedhelm F; Zahoor, Muhammad Yasir MY; Majmundar, Amar J AJ
Publication Date: 2021-11-12

Variant appearance in text: rs17251221
PubMed Link: 34772415
Variant Present in the following documents:
  • 12920_2021_Article_1116.pdf
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Polymorphisms Contributing to Calcium Status: A Systematic Review.

Nutrients
da Silva Lopes, Katharina K; Abe, Sarah Krull SK
Publication Date: 2021-07-21

Variant appearance in text: rs17251221
PubMed Link: 34444650
Variant Present in the following documents:
  • Main text
  • nutrients-13-02488.pdf
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Genetic polymorphisms as prognostic factors for recurrent kidney stones: A systematic review and meta-analysis.

Plos One
Atmoko, Widi W; Raharja, Putu Angga Risky PAR; Birowo, Ponco P; Hamid, Agus Rizal Ardy Hariandy ARAH; Taher, Akmal A; Rasyid, Nur N
Publication Date: 2021

Variant appearance in text: rs17251221
PubMed Link: 33956883
Variant Present in the following documents:
  • Main text
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Metabolite Sensing GPCRs: Promising Therapeutic Targets for Cancer Treatment?

Cells
Cosín-Roger, Jesús J; Ortiz-Masia, Dolores D; Barrachina, Maria Dolores MD; Calatayud, Sara S
Publication Date: 2020-10-23

Variant appearance in text: rs17251221
PubMed Link: 33113952
Variant Present in the following documents:
  • Main text
  • cells-09-02345.pdf
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Signal Transduction Pathways in Breast Cancer: The Important Role of PI3K/Akt/mTOR.

Journal Of Oncology
Ortega, Miguel A MA; Fraile-Martínez, Oscar O; Asúnsolo, Ángel Á; Buján, Julia J; García-Honduvilla, Natalio N; Coca, Santiago S
Publication Date: 2020

Variant appearance in text: rs17251221
PubMed Link: 32211045
Variant Present in the following documents:
  • JO2020-9258396.pdf
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The CaSR in Pathogenesis of Breast Cancer: A New Target for Early Stage Bone Metastases.

Frontiers In Oncology
Das, Souvik S; Clézardin, Philippe P; Kamel, Said S; Brazier, Michel M; Mentaverri, Romuald R
Publication Date: 2020

Variant appearance in text: rs17251221
PubMed Link: 32117726
Variant Present in the following documents:
  • Main text
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Normocalcemic Hyperparathyroidism: Study of its Prevalence and Natural History.

The Journal Of Clinical Endocrinology And Metabolism
Schini, Marian M; Jacques, Richard M RM; Oakes, Eleanor E; Peel, Nicola F A NFA; Walsh, Jennifer S JS; Eastell, Richard R
Publication Date: 2020-04-01

Variant appearance in text: rs17251221
PubMed Link: 32072184
Variant Present in the following documents:
  • Main text
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Improving the odds of drug development success through human genomics: modelling study.

Scientific Reports
Hingorani, Aroon D AD; Kuan, Valerie V; Finan, Chris C; Kruger, Felix A FA; Gaulton, Anna A; Chopade, Sandesh S; Sofat, Reecha R; MacAllister, Raymond J RJ; Overington, John P JP; Hemingway, Harry H; Denaxas, Spiros S; Prieto, David D; Casas, Juan Pablo JP
Publication Date: 2019-12-11

Variant appearance in text: rs17251221
PubMed Link: 31827124
Variant Present in the following documents:
  • Main text
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The rs1256328 (ALPL) and rs12654812 (RGS14) Polymorphisms are Associated with Susceptibility to Calcium Nephrolithiasis in a Taiwanese population.

Scientific Reports
Chen, Wei-Chiao WC; Chou, Wan-Hsuan WH; Chu, Hou-Wei HW; Huang, Chi-Chen CC; Liu, Xiao X; Chang, Wei-Pin WP; Chou, Yii-Her YH; Chang, Wei-Chiao WC
Publication Date: 2019-11-21

Variant appearance in text: rs17251221
PubMed Link: 31754202
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_53261.pdf
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Genetic polymorphism (rs6776158) in CaSR gene is associated with risk of nephrolithiasis in Chinese population.

Medicine
Zhou, Hai H; Huang, Huaxing H; You, Zebin Z; Shadhu, Kamleshsingh K; Ramlagun, Dadhija D; Qiang, Cao C; Li, Pu P; Qi, Lezhong L; Shen, Yuyong Y; Zhou, Ming M; Chen, Yuming Y; Fei, Shangchun S; Wang, Xiaoxiang X
Publication Date: 2018-11

Variant appearance in text: rs17251221
PubMed Link: 30407299
Variant Present in the following documents:
  • medi-97-e13037.pdf
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Mendelian randomization does not support serum calcium in prostate cancer risk.

Cancer Causes & Control : Ccc
Yarmolinsky, James J; Berryman, Katie K; Langdon, Ryan R; Bonilla, Carolina C; , ; Davey Smith, George G; Martin, Richard M RM; Lewis, Sarah J SJ
Publication Date: 2018-11

Variant appearance in text: rs17251221
PubMed Link: 30306355
Variant Present in the following documents:
  • Main text
  • 10552_2018_Article_1081.pdf
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Effects of vitamin D supplementation on markers for cardiovascular disease and type 2 diabetes: an individual participant data meta-analysis of randomized controlled trials.

The American Journal Of Clinical Nutrition
Swart, Karin Ma KM; Lips, Paul P; Brouwer, Ingeborg A IA; Jorde, Rolf R; Heymans, Martijn W MW; Grimnes, Guri G; Grübler, Martin R MR; Gaksch, Martin M; Tomaschitz, Andreas A; Pilz, Stefan S; Eiriksdottir, Gudny G; Gudnason, Vilmundur V; Wamberg, Louise L; Rejnmark, Lars L; Sempos, Christopher T CT; Durazo-Arvizu, Ramón A RA; Dowling, Kirsten G KG; Hull, George G; Škrabáková, Zuzana Z; Kiely, Mairead M; Cashman, Kevin D KD; van Schoor, Natasja M NM
Publication Date: 2018-06-01

Variant appearance in text: rs17251221
PubMed Link: 29868916
Variant Present in the following documents:
  • Main text
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Quantitative assessment of the clinical susceptibility of calcium-sensing receptor polymorphisms in cancer patients.

Cancer Management And Research
Huang, Haohai H; Li, Tao T; Liao, Dan D; Zhu, Zhu Z; Dong, Yong Y
Publication Date: 2018

Variant appearance in text: rs17251221
PubMed Link: 29695932
Variant Present in the following documents:
  • Main text
  • cmar-10-755.pdf
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PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger.

American Journal Of Human Genetics
Verma, Anurag A; Lucas, Anastasia A; Verma, Shefali S SS; Zhang, Yu Y; Josyula, Navya N; Khan, Anqa A; Hartzel, Dustin N DN; Lavage, Daniel R DR; Leader, Joseph J; Ritchie, Marylyn D MD; Pendergrass, Sarah A SA
Publication Date: 2018-04-05

Variant appearance in text: rs17251221
PubMed Link: 29606303
Variant Present in the following documents:
  • Main text
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The suppressive role of calcium sensing receptor in endometrial cancer.

Scientific Reports
Xin, Xiaoyan X; Zeng, Xianqin X; Feng, Dilu D; Hua, Teng T; Liu, Shuangge S; Chi, Shuqi S; Hu, Qinghua Q; Wang, Hongbo H
Publication Date: 2018-01-18

Variant appearance in text: rs17251221
PubMed Link: 29348629
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_19286.pdf
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Recent Advances in Comprehending the Signaling Pathways Involved in the Progression of Breast Cancer.

International Journal Of Molecular Sciences
Nicolini, Andrea A; Ferrari, Paola P; Diodati, Lucrezia L; Carpi, Angelo A
Publication Date: 2017-11-03

Variant appearance in text: rs17251221
PubMed Link: 29099748
Variant Present in the following documents:
  • Main text
  • ijms-18-02321.pdf
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Association of calcium sensing receptor polymorphisms at rs1801725 with circulating calcium in breast cancer patients.

Bmc Cancer
Wang, Li L; Widatalla, Sarrah E SE; Whalen, Diva S DS; Ochieng, Josiah J; Sakwe, Amos M AM
Publication Date: 2017-08-02

Variant appearance in text: rs17251221
PubMed Link: 28764683
Variant Present in the following documents:
  • 12885_2017_Article_3502.pdf
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Calcium-Sensing Receptor Genotype and Response to Cinacalcet in Patients Undergoing Hemodialysis.

Clinical Journal Of The American Society Of Nephrology : Cjasn
Moe, Sharon M SM; Wetherill, Leah L; Decker, Brian Scott BS; Lai, Dongbing D; Abdalla, Safa S; Long, Jin J; Vatta, Matteo M; Foroud, Tatiana M TM; Chertow, Glenn M GM
Publication Date: 2017-07-07

Variant appearance in text: rs17251221
PubMed Link: 28630081
Variant Present in the following documents:
  • Main text
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A Mendelian randomization study of the effect of calcium on coronary artery disease, myocardial infarction and their risk factors.

Scientific Reports
Xu, Lin L; Lin, Shi Lin SL; Schooling, C Mary CM
Publication Date: 2017-02-14

Variant appearance in text: rs17251221
PubMed Link: 28195141
Variant Present in the following documents:
  • Main text
  • srep42691.pdf
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Diseases associated with calcium-sensing receptor.

Orphanet Journal Of Rare Diseases
Vahe, C C; Benomar, K K; Espiard, S S; Coppin, L L; Jannin, A A; Odou, M F MF; Vantyghem, M C MC
Publication Date: 2017-01-25

Variant appearance in text: rs17251221
PubMed Link: 28122587
Variant Present in the following documents:
  • Main text
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Calcium-Sensing Receptor in Breast Physiology and Cancer.

Frontiers In Physiology
Kim, Wonnam W; Wysolmerski, John J JJ
Publication Date: 2016

Variant appearance in text: rs17251221
PubMed Link: 27746743
Variant Present in the following documents:
  • Main text
  • fphys-07-00440.pdf
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The Calcium-Sensing Receptor and the Reproductive System.

Frontiers In Physiology
Ellinger, Isabella I
Publication Date: 2016

Variant appearance in text: rs17251221
PubMed Link: 27625611
Variant Present in the following documents:
  • Main text
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Serum calcium and incident type 2 diabetes: the Atherosclerosis Risk in Communities (ARIC) study.

The American Journal Of Clinical Nutrition
Rooney, Mary R MR; Pankow, James S JS; Sibley, Shalamar D SD; Selvin, Elizabeth E; Reis, Jared P JP; Michos, Erin D ED; Lutsey, Pamela L PL
Publication Date: 2016-10

Variant appearance in text: rs17251221
PubMed Link: 27510541
Variant Present in the following documents:
  • Main text
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Genetic polymorphisms of CASR and cancer risk: evidence from meta-analysis and HuGE review.

Oncotargets And Therapy
Jeong, Sohyun S; Kim, Jae Hyun JH; Kim, Myeong Gyu MG; Han, Nayoung N; Kim, In-Wha IW; Kim, Therasa T; Oh, Jung Mi JM
Publication Date: 2016

Variant appearance in text: rs17251221
PubMed Link: 26929638
Variant Present in the following documents:
  • Main text
  • ott-9-655.pdf
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Genetic variations in vitamin D-related pathways and breast cancer risk in African American women in the AMBER consortium.

International Journal Of Cancer
Yao, Song S; Haddad, Stephen A SA; Hu, Qiang Q; Liu, Song S; Lunetta, Kathryn L KL; Ruiz-Narvaez, Edward A EA; Hong, Chi-Chen CC; Zhu, Qianqian Q; Sucheston-Campbell, Lara L; Cheng, Ting-Yuan David TY; Bensen, Jeannette T JT; Johnson, Candace S CS; Trump, Donald L DL; Haiman, Christopher A CA; Olshan, Andrew F AF; Palmer, Julie R JR; Ambrosone, Christine B CB
Publication Date: 2016-05-01

Variant appearance in text: rs17251221
PubMed Link: 26650177
Variant Present in the following documents:
  • Main text
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Calcium intake, polymorphisms of the calcium-sensing receptor, and recurrent/aggressive prostate cancer.

Cancer Causes & Control : Ccc
Binder, Moritz M; Shui, Irene M IM; Wilson, Kathryn M KM; Penney, Kathryn L KL; , ; Mucci, Lorelei A LA; Kibel, Adam S AS
Publication Date: 2015-12

Variant appearance in text: rs17251221
PubMed Link: 26407952
Variant Present in the following documents:
  • Main text
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The G allele of CaSR R990G polymorphism increases susceptibility to urolithiasis and hypercalciuria: evidences from a comprehensive meta-analysis.

Biomed Research International
Liu, Kang K; Wang, Xiaolan X; Ye, Jiaxin J; Qin, Chao C; Shao, Pengfei P; Zhang, Wei W; Li, Jie J; Yin, Changjun C
Publication Date: 2015

Variant appearance in text: rs17251221
PubMed Link: 25705702
Variant Present in the following documents:
  • BMRI2015-958207.pdf
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Common genetic variation of the calcium-sensing receptor and lethal prostate cancer risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Shui, Irene M IM; Mucci, Lorelei A LA; Wilson, Kathryn M KM; Kraft, Peter P; Penney, Kathryn L KL; Stampfer, Meir J MJ; Giovannucci, Edward E
Publication Date: 2013-01

Variant appearance in text: rs17251221
PubMed Link: 23125333
Variant Present in the following documents:
  • Main text
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A genetic polymorphism (rs17251221) in the calcium-sensing receptor gene (CASR) is associated with stone multiplicity in calcium nephrolithiasis.

Plos One
Chou, Yii-Her YH; Woon, Peng Yeong PY; Chen, Wei-Chiao WC; Hsu, Yu-Wen YW; Chang, Jer-Ming JM; Hwang, Daw-Yang DY; Chiu, Yi-Ching YC; Kuo, Ho-Chang HC; Chang, Wei-Pin WP; Hou, Ming-Feng MF; Liu, Mu-En ME; Chang, Jan-Gowth JG; Chang, Wei-Chiao WC
Publication Date: 2011

Variant appearance in text: rs17251221
PubMed Link: 21966463
Variant Present in the following documents:
  • Main text
  • pone.0025227.pdf
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Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.

Human Molecular Genetics
O'Seaghdha, Conall M CM; Yang, Qiong Q; Glazer, Nicole L NL; Leak, Tennille S TS; Dehghan, Abbas A; Smith, Albert V AV; Kao, W H Linda WH; Lohman, Kurt K; Hwang, Shih-Jen SJ; Johnson, Andrew D AD; Hofman, Albert A; Uitterlinden, Andre G AG; Chen, Yii-Der Ida YD; , ; Brown, Edward M EM; Siscovick, David S DS; Harris, Tamara B TB; Psaty, Bruce M BM; Coresh, Josef J; Gudnason, Vilmundur V; Witteman, Jacqueline C JC; Liu, Yong Mei YM; Kestenbaum, Bryan R BR; Fox, Caroline S CS; Köttgen, Anna A
Publication Date: 2010-11-01

Variant appearance in text: rs17251221
PubMed Link: 20705733
Variant Present in the following documents:
  • Main text
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Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.

Plos Genetics
Meyer, Tamra E TE; Verwoert, Germaine C GC; Hwang, Shih-Jen SJ; Glazer, Nicole L NL; Smith, Albert V AV; van Rooij, Frank J A FJ; Ehret, Georg B GB; Boerwinkle, Eric E; Felix, Janine F JF; Leak, Tennille S TS; Harris, Tamara B TB; Yang, Qiong Q; Dehghan, Abbas A; Aspelund, Thor T; Katz, Ronit R; Homuth, Georg G; Kocher, Thomas T; Rettig, Rainer R; Ried, Janina S JS; Gieger, Christian C; Prucha, Hanna H; Pfeufer, Arne A; Meitinger, Thomas T; Coresh, Josef J; Hofman, Albert A; Sarnak, Mark J MJ; Chen, Yii-Der Ida YD; Uitterlinden, André G AG; Chakravarti, Aravinda A; Psaty, Bruce M BM; van Duijn, Cornelia M CM; Kao, W H Linda WH; Witteman, Jacqueline C M JC; Gudnason, Vilmundur V; Siscovick, David S DS; Fox, Caroline S CS; Köttgen, Anna A; , ; ,
Publication Date: 2010-08-05

Variant appearance in text: rs17251221
PubMed Link: 20700443
Variant Present in the following documents:
  • Main text
  • pgen.1001045.pdf
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Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene.

Plos Genetics
Kapur, Karen K; Johnson, Toby T; Beckmann, Noam D ND; Sehmi, Joban J; Tanaka, Toshiko T; Kutalik, Zoltán Z; Styrkarsdottir, Unnur U; Zhang, Weihua W; Marek, Diana D; Gudbjartsson, Daniel F DF; Milaneschi, Yuri Y; Holm, Hilma H; Diiorio, Angelo A; Waterworth, Dawn D; Li, Yun Y; Singleton, Andrew B AB; Bjornsdottir, Unnur S US; Sigurdsson, Gunnar G; Hernandez, Dena G DG; Desilva, Ranil R; Elliott, Paul P; Eyjolfsson, Gudmundur I GI; Guralnik, Jack M JM; Scott, James J; Thorsteinsdottir, Unnur U; Bandinelli, Stefania S; Chambers, John J; Stefansson, Kari K; Waeber, Gérard G; Ferrucci, Luigi L; Kooner, Jaspal S JS; Mooser, Vincent V; Vollenweider, Peter P; Beckmann, Jacques S JS; Bochud, Murielle M; Bergmann, Sven S
Publication Date: 2010-07-22

Variant appearance in text: rs17251221
PubMed Link: 20661308
Variant Present in the following documents:
  • Main text
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