VDR c.277+2971T>C

Variant ID: 12-48255859-A-G

NM_000376.2(VDR):c.277+2971T>C

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Predictors of progression from a first demyelinating event to clinically definite multiple sclerosis.

Brain Communications
Chapman, Caron C; Lucas, Robyn M RM; Ponsonby, Anne-Louise AL; Taylor, Bruce B; ,
Publication Date: 2022

Variant appearance in text: rs2283342
PubMed Link: 35891671
Variant Present in the following documents:
  • Main text
  • fcac181.pdf
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Association between Polymorphisms in Vitamin D Pathway-Related Genes, Vitamin D Status, Muscle Mass and Function: A Systematic Review.

Nutrients
Krasniqi, Ermira E; Boshnjaku, Arben A; Wagner, Karl-Heinz KH; Wessner, Barbara B
Publication Date: 2021-09-04

Variant appearance in text: rs2283342
PubMed Link: 34578986
Variant Present in the following documents:
  • Main text
  • nutrients-13-03109.pdf
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Distribution of variants in multiple vitamin D-related loci (DHCR7/NADSYN1, GC, CYP2R1, CYP11A1, CYP24A1, VDR, RXRα and RXRγ) vary between European, East-Asian and Sub-Saharan African-ancestry populations.

Genes & Nutrition
Jones, Patrice P; Lucock, Mark M; Chaplin, George G; Jablonski, Nina G NG; Veysey, Martin M; Scarlett, Christopher C; Beckett, Emma E
Publication Date: 2020-03-13

Variant appearance in text: rs2283342
PubMed Link: 32169032
Variant Present in the following documents:
  • Main text
  • 12263_2020_Article_663.pdf
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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs2283342
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
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Single-Nucleotide Polymorphisms in Vitamin D-Related Genes May Modify Vitamin D-Breast Cancer Associations.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
O'Brien, Katie M KM; Sandler, Dale P DP; Kinyamu, H Karimi HK; Taylor, Jack A JA; Weinberg, Clarice R CR
Publication Date: 2017-12

Variant appearance in text: rs2283342
PubMed Link: 28830874
Variant Present in the following documents:
  • Main text
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Vitamin D Receptor Gene Polymorphism and the Risk of Colorectal Cancer: A Nested Case-Control Study.

Plos One
Budhathoki, Sanjeev S; Yamaji, Taiki T; Iwasaki, Motoki M; Sawada, Norie N; Shimazu, Taichi T; Sasazuki, Shizuka S; Yoshida, Teruhiko T; Tsugane, Shoichiro S
Publication Date: 2016

Variant appearance in text: rs2283342
PubMed Link: 27736940
Variant Present in the following documents:
  • Main text
  • pone.0164648.pdf
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Prediagnostic Plasma 25-Hydroxyvitamin D and Pancreatic Cancer Survival.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Yuan, Chen C; Qian, Zhi Rong ZR; Babic, Ana A; Morales-Oyarvide, Vicente V; Rubinson, Douglas A DA; Kraft, Peter P; Ng, Kimmie K; Bao, Ying Y; Giovannucci, Edward L EL; Ogino, Shuji S; Stampfer, Meir J MJ; Gaziano, John Michael JM; Sesso, Howard D HD; Buring, Julie E JE; Cochrane, Barbara B BB; Chlebowski, Rowan T RT; Snetselaar, Linda G LG; Manson, JoAnn E JE; Fuchs, Charles S CS; Wolpin, Brian M BM
Publication Date: 2016-08-20

Variant appearance in text: rs2283342
PubMed Link: 27325858
Variant Present in the following documents:
  • Main text
View BVdb publication page



Circulating vitamin D, vitamin D-related genetic variation, and risk of fatal prostate cancer in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium.

Cancer
Shui, Irene M IM; Mondul, Alison M AM; Lindström, Sara S; Tsilidis, Konstantinos K KK; Travis, Ruth C RC; Gerke, Travis T; Albanes, Demetrius D; Mucci, Lorelei A LA; Giovannucci, Edward E; Kraft, Peter P; ,
Publication Date: 2015-06-15

Variant appearance in text: rs2283342
PubMed Link: 25731953
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interaction between allelic variations in vitamin D receptor and retinoid X receptor genes on metabolic traits.

Bmc Genetics
Vimaleswaran, Karani S KS; Cavadino, Alana A; Berry, Diane J DJ; Mangino, Massimo M; Andrews, Peter P; Moore, Jason H JH; Spector, Timothy D TD; Power, Chris C; Järvelin, Marjo-Riitta MR; Hyppönen, Elina E
Publication Date: 2014-03-19

Variant appearance in text: rs2283342
PubMed Link: 24641809
Variant Present in the following documents:
  • Main text
  • 1471-2156-15-37.pdf
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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: rs2283342
PubMed Link: 23826131
Variant Present in the following documents:
  • Main text
  • pone.0066768.pdf
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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: rs2283342
PubMed Link: 23381556
Variant Present in the following documents:
  • Main text
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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: rs2283342
PubMed Link: 22155603
Variant Present in the following documents:
  • Main text
  • 1479-7364-5-6-538.pdf
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Maternal vitamin D receptor genetic variation contributes to infant birthweight among black mothers.

American Journal Of Medical Genetics. Part A
Swamy, Geeta K GK; Garrett, Melanie E ME; Miranda, Marie Lynn ML; Ashley-Koch, Allison E AE
Publication Date: 2011-06

Variant appearance in text: rs2283342
PubMed Link: 21548019
Variant Present in the following documents:
  • Main text
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Genetic variation in the vitamin D receptor (VDR) and the vitamin D-binding protein (GC) and risk for colorectal cancer: results from the Colon Cancer Family Registry.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Poynter, Jenny N JN; Jacobs, Elizabeth T ET; Figueiredo, Jane C JC; Lee, Won H WH; Conti, David V DV; Campbell, Peter T PT; Levine, A Joan AJ; Limburg, Paul P; Le Marchand, Loic L; Cotterchio, Michelle M; Newcomb, Polly A PA; Potter, John D JD; Jenkins, Mark A MA; Hopper, John L JL; Duggan, David J DJ; Baron, John A JA; Haile, Robert W RW
Publication Date: 2010-02

Variant appearance in text: rs2283342
PubMed Link: 20086113
Variant Present in the following documents:
  • Main text
View BVdb publication page