VDR c.-84+4112G>A

Variant ID: 12-48294626-C-T

NM_000376.3(VDR):c.-84+4112G>A

This variant was identified in 21 publications

View GRCh38 version.




Publications:


Myostatin and Follistatin-New Kids on the Block in the Diagnosis of Sarcopenia in IBD and Possible Therapeutic Implications.

Biomedicines
Skrzypczak, Dorota D; Skrzypczak-Zielińska, Marzena M; Ratajczak, Alicja Ewa AE; Szymczak-Tomczak, Aleksandra A; Eder, Piotr P; Słomski, Ryszard R; Dobrowolska, Agnieszka A; Krela-Kaźmierczak, Iwona I
Publication Date: 2021-09-23

Variant appearance in text: rs7136534
PubMed Link: 34680417
Variant Present in the following documents:
  • Main text
  • biomedicines-09-01301.pdf
View BVdb publication page



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: rs7136534
PubMed Link: 34578986
Variant Present in the following documents:
  • Main text
  • nutrients-13-03109.pdf
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Vitamin D Receptor Polymorphism and Myasthenia Gravis in Chinese Han Population.

Frontiers In Neurology
Han, Ji-Lan JL; Yue, Yao-Xian YX; Gao, Xiang X; Xie, Yan-Chen YC; Hao, Hong-Jun HJ; Li, Hong-Yan HY; Yu, Xiao-Long XL; Li, Jie J; Duan, Rui-Sheng RS; Li, Hai-Feng HF
Publication Date: 2021

Variant appearance in text: rs7136534
PubMed Link: 33633666
Variant Present in the following documents:
  • Main text
View BVdb publication page



Vitamin D pathway-related gene polymorphisms and their association with metabolic diseases: A literature review.

Journal Of Diabetes And Metabolic Disorders
Alathari, Buthaina E BE; Sabta, Aji A AA; Kalpana, Chinnappan A CA; Vimaleswaran, Karani Santhanakrishnan KS
Publication Date: 2020-12

Variant appearance in text: rs7136534
PubMed Link: 33553043
Variant Present in the following documents:
  • Main text
  • 40200_2020_Article_561.pdf
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Genetic Associations with Aging Muscle: A Systematic Review.

Cells
Pratt, Jedd J; Boreham, Colin C; Ennis, Sean S; Ryan, Anthony W AW; De Vito, Giuseppe G
Publication Date: 2019-12-19

Variant appearance in text: rs7136534
PubMed Link: 31861518
Variant Present in the following documents:
  • Main text
  • cells-09-00012.pdf
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Germline Polymorphisms in the Nuclear Receptors PXR and VDR as Novel Prognostic Markers in Metastatic Colorectal Cancer Patients Treated With FOLFIRI.

Frontiers In Oncology
De Mattia, Elena E; Polesel, Jerry J; Roncato, Rossana R; Labriet, Adrien A; Bignucolo, Alessia A; Dreussi, Eva E; Romanato, Loredana L; Guardascione, Michela M; Buonadonna, Angela A; D'Andrea, Mario M; Lévesque, Eric E; Jonker, Derek D; Couture, Félix F; Guillemette, Chantal C; Cecchin, Erika E; Toffoli, Giuseppe G
Publication Date: 2019

Variant appearance in text: rs7136534
PubMed Link: 31850208
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs7136534
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



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: rs7136534
PubMed Link: 28830874
Variant Present in the following documents:
  • Main text
View BVdb publication page



Vitamin D receptor and calcium-sensing receptor polymorphisms and colorectal cancer survival in the Newfoundland population.

British Journal Of Cancer
Zhu, Yun Y; Wang, Peizhong Peter PP; Zhai, Guangju G; Bapat, Bharati B; Savas, Sevtap S; Woodrow, Jennifer R JR; Sharma, Ishor I; Li, Yuming Y; Zhou, Xin X; Yang, Ning N; Campbell, Peter T PT; Dicks, Elizabeth E; Parfrey, Patrick S PS; Mclaughlin, John R JR
Publication Date: 2017-09-05

Variant appearance in text: rs7136534
PubMed Link: 28765616
Variant Present in the following documents:
  • bjc2017242x1.pdf
View BVdb publication page



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: rs7136534
PubMed Link: 27736940
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants in vitamin D signaling pathways and risk of gestational diabetes mellitus.

Oncotarget
Shi, Aiwu A; Wen, Juan J; Liu, Guangquan G; Liu, Heng H; Fu, Ziyi Z; Zhou, Jing J; Zhu, Yao Y; Liu, Yaoqiu Y; Guo, Xirong X; Xu, Jianguo J
Publication Date: 2016-10-18

Variant appearance in text: rs7136534
PubMed Link: 27636996
Variant Present in the following documents:
  • Main text
  • oncotarget-07-67788.pdf
View BVdb publication page



Interaction of HLA-DRB1*1501 and TNF-Alpha in a Population-based Case-control Study of Multiple Sclerosis.

Immunology And Infectious Diseases
Williamson, Dhelia M DM; Marrie, Ruth Ann RA; Ashley-Koch, Allison A; Satten, Glen A GA
Publication Date: 2013-09

Variant appearance in text: rs7136534
PubMed Link: 25741530
Variant Present in the following documents:
  • Main text
View BVdb publication page



Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions.

Archives Of Environmental & Occupational Health
Napier, Melanie D MD; Poole, Charles C; Satten, Glen A GA; Ashley-Koch, Allison A; Marrie, Ruth Ann RA; Williamson, Dhelia M DM
Publication Date: 2016

Variant appearance in text: rs7136534
PubMed Link: 25137520
Variant Present in the following documents:
  • Main text
View BVdb publication page



Candidate gene analysis in israeli soldiers with stress fractures.

Journal Of Sports Science & Medicine
Yanovich, Ran R; Friedman, Eitan E; Milgrom, Roni R; Oberman, Bernice B; Freedman, Laurence L; Moran, Daniel S DS
Publication Date: 2012

Variant appearance in text: rs7136534
PubMed Link: 24149131
Variant Present in the following documents:
  • Main text
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Serum 25-hydroxyvitamin D3 levels and vitamin D receptor variants in melanoma patients from the Mediterranean area of Barcelona.

Bmc Medical Genetics
Ogbah, Zighereda Z; Visa, Laura L; Badenas, Celia C; Ríos, José J; Puig-Butille, Joan Anton JA; Bonifaci, Nuria N; Guino, Elisabet E; Augé, Josep Maria JM; Kolm, Isabel I; Carrera, Cristina C; Pujana, Miquel Ángel MÁ; Malvehy, Josep J; Puig, Susana S
Publication Date: 2013-02-16

Variant appearance in text: rs7136534
PubMed Link: 23413917
Variant Present in the following documents:
  • Main text
  • 1471-2350-14-26.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: rs7136534
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: rs7136534
PubMed Link: 22155603
Variant Present in the following documents:
  • Main text
  • 1479-7364-5-6-538.pdf
View BVdb publication page



Genetic associations in the vitamin D receptor and colorectal cancer in African Americans and Caucasians.

Plos One
Kupfer, Sonia S SS; Anderson, Jeffrey R JR; Ludvik, Anton E AE; Hooker, Stanley S; Skol, Andrew A; Kittles, Rick A RA; Keku, Temitope O TO; Sandler, Robert S RS; Ruiz-Ponte, Clara C; Castellvi-Bel, Sergi S; Castells, Antoni A; Carracedo, Angel A; Ellis, Nathan A NA
Publication Date: 2011

Variant appearance in text: rs7136534
PubMed Link: 22046258
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs7136534
PubMed Link: 21548019
Variant Present in the following documents:
  • Main text
View BVdb publication page



Vitamin D receptor gene polymorphisms are associated with adiposity phenotypes.

The American Journal Of Clinical Nutrition
Ochs-Balcom, Heather M HM; Chennamaneni, Raj R; Millen, Amy E AE; Shields, Peter G PG; Marian, Catalin C; Trevisan, Maurizio M; Freudenheim, Jo L JL
Publication Date: 2011-01

Variant appearance in text: rs7136534
PubMed Link: 21048058
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs7136534
PubMed Link: 20086113
Variant Present in the following documents:
  • Main text
View BVdb publication page