CYP24A1 c.544-179A>G

Variant ID: 20-52786406-T-C

NM_000782.4(CYP24A1):c.544-179A>G

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs2245153
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genetic polymorphisms in vitamin D pathway influence 25(OH)D levels and are associated with atopy and asthma.

Allergy, Asthma, And Clinical Immunology : Official Journal Of The Canadian Society Of Allergy And Clinical Immunology
Galvão, Alana Alcântara AA; de Araújo Sena, Flávia F; Andrade Belitardo, Emília Maria Medeiros de EMM; de Santana, Maria Borges Rabelo MBR; Costa, Gustavo Nunes de Oliveira GNO; Cruz, Álvaro Augusto ÁA; Barreto, Maurício Lima ML; Costa, Ryan Dos Santos RDS; Alcantara-Neves, Neuza Maria NM; Figueiredo, Camila Alexandrina CA
Publication Date: 2020

Variant appearance in text: rs2245153
PubMed Link: 32834827
Variant Present in the following documents:
  • Main text
  • 13223_2020_Article_460.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: CYP24A1: 544-179A>G; rs2245153
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs2245153
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Low serum vitamin D is associated with axial length and risk of myopia in young children.

European Journal Of Epidemiology
Tideman, J Willem L JW; Polling, Jan Roelof JR; Voortman, Trudy T; Jaddoe, Vincent W V VW; Uitterlinden, André G AG; Hofman, Albert A; Vingerling, Johannes R JR; Franco, Oscar H OH; Klaver, Caroline C W CC
Publication Date: 2016-05

Variant appearance in text: rs2245153
PubMed Link: 26955828
Variant Present in the following documents:
  • Main text
  • 10654_2016_Article_128.pdf
View BVdb publication page



Vitamin D-related gene polymorphisms, plasma 25-hydroxyvitamin D, and breast cancer risk.

Cancer Causes & Control : Ccc
Reimers, Laura L LL; Crew, Katherine D KD; Bradshaw, Patrick T PT; Santella, Regina M RM; Steck, Susan E SE; Sirosh, Iryna I; Terry, Mary Beth MB; Hershman, Dawn L DL; Shane, Elizabeth E; Cremers, Serge S; Dworakowski, Elzbieta E; Teitelbaum, Susan L SL; Neugut, Alfred I AI; Gammon, Marilie D MD
Publication Date: 2015-02

Variant appearance in text: rs2245153
PubMed Link: 25421379
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants in vitamin d pathway genes and risk of pancreas cancer; results from a population-based case-control study in ontario, Canada.

Plos One
Anderson, Laura N LN; Cotterchio, Michelle M; Knight, Julia A JA; Borgida, Ayelet A; Gallinger, Steven S; Cleary, Sean P SP
Publication Date: 2013

Variant appearance in text: rs2245153
PubMed Link: 23826131
Variant Present in the following documents:
  • Main text
  • pone.0066768.pdf
View BVdb publication page



A phase I/II pharmacokinetic and pharmacogenomic study of calcitriol in combination with cisplatin and docetaxel in advanced non-small-cell lung cancer.

Cancer Chemotherapy And Pharmacology
Ramnath, N N; Daignault-Newton, S S; Dy, G K GK; Muindi, J R JR; Adjei, A A; Elingrod, V L VL; Kalemkerian, G P GP; Cease, K B KB; Stella, P J PJ; Brenner, D E DE; Troeschel, S S; Johnson, C S CS; Trump, D L DL
Publication Date: 2013-05

Variant appearance in text: rs2245153
PubMed Link: 23435876
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic association analysis of vitamin D pathway with obesity traits.

International Journal Of Obesity (2005)
Vimaleswaran, K S KS; Cavadino, A A; Berry, D J DJ; , ; Whittaker, J C JC; Power, C C; Järvelin, M-R MR; Hyppönen, E E
Publication Date: 2013-10

Variant appearance in text: rs2245153
PubMed Link: 23381556
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systems biology-based analysis implicates a novel role for vitamin D metabolism in the pathogenesis of age-related macular degeneration.

Human Genomics
Morrison, Margaux A MA; Silveira, Alexandra C AC; Huynh, Nancy N; Jun, Gyungah G; Smith, Silvia E SE; Zacharaki, Fani F; Sato, Hajime H; Loomis, Stephanie S; Andreoli, Michael T MT; Adams, Scott M SM; Radeke, Monte J MJ; Jelcick, Austin S AS; Yuan, Yang Y; Tsiloulis, Aristoteles N AN; Chatzoulis, Dimitrios Z DZ; Silvestri, Giuliana G; Kotoula, Maria G MG; Tsironi, Evangelia E EE; Hollis, Bruce W BW; Chen, Rui R; Haider, Neena B NB; Miller, Joan W JW; Farrer, Lindsay A LA; Hageman, Gregory S GS; Kim, Ivana K IK; Schaumberg, Debra A DA; DeAngelis, Margaret M MM
Publication Date: 2011-10

Variant appearance in text: rs2245153
PubMed Link: 22155603
Variant Present in the following documents:
  • Main text
  • 1479-7364-5-6-538.pdf
View BVdb publication page



Association of the vitamin D metabolism gene CYP24A1 with coronary artery calcification.

Arteriosclerosis, Thrombosis, And Vascular Biology
Shen, Haiqing H; Bielak, Lawrence F LF; Ferguson, Jane F JF; Streeten, Elizabeth A EA; Yerges-Armstrong, Laura M LM; Liu, Jie J; Post, Wendy W; O'Connell, Jeffery R JR; Hixson, James E JE; Kardia, Sharon L R SL; Sun, Yan V YV; Jhun, Min A MA; Wang, Xuexia X; Mehta, Nehal N NN; Li, Mingyao M; Koller, Daniel L DL; Hakonarson, Hakan H; Keating, Brendan J BJ; Rader, Daniel J DJ; Shuldiner, Alan R AR; Peyser, Patricia A PA; Reilly, Muredach P MP; Mitchell, Braxton D BD
Publication Date: 2010-12

Variant appearance in text: rs2245153
PubMed Link: 20847308
Variant Present in the following documents:
  • Main text
View BVdb publication page



Vitamin D pathway gene variants and prostate cancer prognosis.

The Prostate
Holt, Sarah K SK; Kwon, Erika M EM; Koopmeiners, Joseph S JS; Lin, Daniel W DW; Feng, Ziding Z; Ostrander, Elaine A EA; Peters, Ulrike U; Stanford, Janet L JL
Publication Date: 2010-09-15

Variant appearance in text: rs2245153
PubMed Link: 20687218
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes.

Diabetes
Bailey, Rebecca R; Cooper, Jason D JD; Zeitels, Lauren L; Smyth, Deborah J DJ; Yang, Jennie H M JH; Walker, Neil M NM; Hyppönen, Elina E; Dunger, David B DB; Ramos-Lopez, Elizabeth E; Badenhoop, Klaus K; Nejentsev, Sergey S; Todd, John A JA
Publication Date: 2007-10

Variant appearance in text: rs2245153
PubMed Link: 17606874
Variant Present in the following documents:
  • Main text
View BVdb publication page