VDR c.147-6046T>C

Variant ID: 12-48265006-A-G

NM_000376.2(VDR):c.147-6046T>C

This variant was identified in 29 publications

View GRCh38 version.




Publications:


Vitamin D role in hepatitis B: focus on immune system and genetics mechanism.

Heliyon
Asghari, Arghavan A; Jafari, Fatemeh F; Jameshorani, Maryam M; Chiti, Hossein H; Naseri, Mohsen M; Ghafourirankouhi, Anahita A; Kooshkaki, Omid O; Abdshah, Alireza A; Parsamanesh, Negin N
Publication Date: 2022-11

Variant appearance in text: rs3819545
PubMed Link: 36411916
Variant Present in the following documents:
  • Main text
  • main.pdf
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Serum 25-Hydroxy Vitamin D Levels and Association of Vitamin D Receptor Gene Polymorphisms in Vitiligo.

Journal Of Korean Medical Science
Kim, Tae-Eun TE; Kim, Su Kang SK; Shin, Min Kyung MK; Jeong, Ki-Heon KH; Lee, Mu-Hyoung MH
Publication Date: 2022-04-11

Variant appearance in text: rs3819545
PubMed Link: 35411730
Variant Present in the following documents:
  • jkms-37-e110.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: rs3819545
PubMed Link: 34578986
Variant Present in the following documents:
  • Main text
  • nutrients-13-03109.pdf
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Association of eleven single nucleotide polymorphisms with refractive disorders from Eskisehir, Turkey.

International Journal Of Ophthalmology
Unlu, Nadir N; Erzurumluoglu Gokalp, Ebru E; Arslan, Serap S; Cilingir, Oguz O; Bilgin, Muzaffer M; Yildirim, Engin E; Gursoy, Huseyin H
Publication Date: 2021

Variant appearance in text: VDR: 147-6046T>C; rs3819545
PubMed Link: 34150535
Variant Present in the following documents:
  • Main text
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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: rs3819545
PubMed Link: 33553043
Variant Present in the following documents:
  • Main text
  • 40200_2020_Article_561.pdf
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Association between vitamin D receptor genetic polymorphisms and haplotypes and risk of lumbar degenerative disc disease in a Chinese population.

International Journal Of Clinical And Experimental Pathology
Fang, Yu Y; Yu, Bin B; Yang, Yong Y; Liu, Gang G; Tu, Su Yi La SY
Publication Date: 2017

Variant appearance in text: rs3819545
PubMed Link: 31966727
Variant Present in the following documents:
  • Main text
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Polymorphisms of genes related to vitamin D metabolism and transportation and its relationship with the risk of osteoporosis: protocol for a multicentre prospective cohort study in China.

Bmj Open
Wang, Jing J; Shu, Bing B; Li, Chen-Guang CG; Xie, Xing-Wen XW; Liang, De ; Chen, Bo-Lai BL; Lin, Xin-Chao XC; Wei, Xu X; Wang, Liang L; Leng, Xiang-Yang XY; Zhou, Ying-Jie YJ; Chen, Pei-Zhan PZ; Tao, Yu-Ren YR; Zhou, Yong Y; Zhang, Yan Y; Cui, Xue-Jun XJ; Lu, Sheng S; Wang, Hui H; Shi, Qi Q; Wang, Yong-Jun YJ
Publication Date: 2019-11-24

Variant appearance in text: rs3819545
PubMed Link: 31767578
Variant Present in the following documents:
  • Main text
  • bmjopen-2018-028084.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: rs3819545
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: rs3819545
PubMed Link: 28830874
Variant Present in the following documents:
  • Main text
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Vitamin D in hematological disorders and malignancies.

European Journal Of Haematology
Kulling, Paige M PM; Olson, Kristine C KC; Olson, Thomas L TL; Feith, David J DJ; Loughran, Thomas P TP
Publication Date: 2017-03

Variant appearance in text: rs3819545
PubMed Link: 27743385
Variant Present in the following documents:
  • Main text
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Vitamin D receptor gene associations with pulmonary tuberculosis in a Tibetan Chinese population.

Bmc Infectious Diseases
Hu, Qunying Q; Chen, Zhengshuai Z; Liang, Guinian G; Mo, Fangping F; Zhang, Hengxun H; Xu, Shilin S; Wang, Yuhe Y; Kang, Longli L; Jin, Tianbo T
Publication Date: 2016-09-05

Variant appearance in text: rs3819545
PubMed Link: 27595605
Variant Present in the following documents:
  • Main text
  • 12879_2016_Article_1699.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: rs3819545
PubMed Link: 27325858
Variant Present in the following documents:
  • Main text
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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: rs3819545
PubMed Link: 25741530
Variant Present in the following documents:
  • Main text
View BVdb publication page



Vitamin D: Implications for ocular disease and therapeutic potential.

Experimental Eye Research
Reins, Rose Y RY; McDermott, Alison M AM
Publication Date: 2015-05

Variant appearance in text: rs3819545
PubMed Link: 25724179
Variant Present in the following documents:
  • Main text
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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: rs3819545
PubMed Link: 25137520
Variant Present in the following documents:
  • Main text
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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: rs3819545
PubMed Link: 23381556
Variant Present in the following documents:
  • Main text
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A two-stage evaluation of genetic variation in immune and inflammation genes with risk of non-Hodgkin lymphoma identifies new susceptibility locus in 6p21.3 region.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Cerhan, James R JR; Fredericksen, Zachary S ZS; Novak, Anne J AJ; Ansell, Stephen M SM; Kay, Neil E NE; Liebow, Mark M; Dogan, Ahmet A; Cunningham, Julie M JM; Wang, Alice H AH; Witzig, Thomas E TE; Habermann, Thomas M TM; Asmann, Yan W YW; Slager, Susan L SL
Publication Date: 2012-10

Variant appearance in text: rs3819545
PubMed Link: 22911334
Variant Present in the following documents:
  • Main text
View BVdb publication page



Early life sun exposure, vitamin D-related gene variants, and risk of non-Hodgkin lymphoma.

Cancer Causes & Control : Ccc
Kelly, Jennifer L JL; Drake, Matthew T MT; Fredericksen, Zachary S ZS; Asmann, Yan W YW; Liebow, Mark M; Shanafelt, Tait D TD; Feldman, Andrew L AL; Ansell, Stephen M SM; Macon, William R WR; Herr, Megan M MM; Wang, Alice H AH; Nowakowski, Grzegorz S GS; Call, Timothy G TG; Habermann, Thomas M TM; Slager, Susan L SL; Witzig, Thomas E TE; Cerhan, James R JR
Publication Date: 2012-07

Variant appearance in text: rs3819545
PubMed Link: 22544453
Variant Present in the following documents:
  • Main text
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Variants in the vitamin D pathway, serum levels of vitamin D, and estrogen receptor negative breast cancer among African-American women: a case-control study.

Breast Cancer Research : Bcr
Yao, Song S; Zirpoli, Gary G; Bovbjerg, Dana H DH; Jandorf, Lina L; Hong, Chi Chen CC; Zhao, Hua H; Sucheston, Lara E LE; Tang, Li L; Roberts, Michelle M; Ciupak, Gregory G; Davis, Warren W; Hwang, Helena H; Johnson, Candace S CS; Trump, Donald L DL; McCann, Susan E SE; Ademuyiwa, Foluso F; Pawlish, Karen S KS; Bandera, Elisa V EV; Ambrosone, Christine B CB
Publication Date: 2012-04-04

Variant appearance in text: rs3819545
PubMed Link: 22480149
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: rs3819545
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: rs3819545
PubMed Link: 22046258
Variant Present in the following documents:
  • Main text
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Vitamin D receptor (VDR) and group-specific component (GC, vitamin D-binding protein) polymorphisms in myopia.

Investigative Ophthalmology & Visual Science
Mutti, Donald O DO; Cooper, Margaret E ME; Dragan, Ecaterina E; Jones-Jordan, Lisa A LA; Bailey, Melissa D MD; Marazita, Mary L ML; Murray, Jeffrey C JC; Zadnik, Karla K; ,
Publication Date: 2011-06-01

Variant appearance in text: rs3819545
PubMed Link: 21357399
Variant Present in the following documents:
  • Main text
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Vitamin D receptor gene as a candidate gene for Parkinson disease.

Annals Of Human Genetics
Butler, Megan W MW; Burt, Amber A; Edwards, Todd L TL; Zuchner, Stephan S; Scott, William K WK; Martin, Eden R ER; Vance, Jeffery M JM; Wang, Liyong L
Publication Date: 2011-03

Variant appearance in text: rs3819545
PubMed Link: 21309754
Variant Present in the following documents:
  • Main text
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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: rs3819545
PubMed Link: 21048058
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: rs3819545
PubMed Link: 20086113
Variant Present in the following documents:
  • Main text
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Association analyses of the vitamin D receptor gene in 1654 families with type I diabetes.

Genes And Immunity
Kahles, H H; Morahan, G G; Todd, J A JA; Badenhoop, K K; ,
Publication Date: 2009-12

Variant appearance in text: rs3819545
PubMed Link: 19956103
Variant Present in the following documents:
  • Main text
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Overview of the Rapid Response data.

Genes And Immunity
Brown, W M WM; Pierce, J J JJ; Hilner, J E JE; Perdue, L H LH; Lohman, K K; Lu, L L; de Bakker, P I W PI; Irenze, K K; Ziaugra, L L; Mirel, D B DB; ,
Publication Date: 2009-12

Variant appearance in text: rs3819545
PubMed Link: 19956101
Variant Present in the following documents:
  • Main text
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Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.

Respiratory Research
Wjst, Matthias M; Altmüller, Janine J; Faus-Kessler, Theresia T; Braig, Christine C; Bahnweg, Margret M; André, Elisabeth E
Publication Date: 2006-04-06

Variant appearance in text: rs3819545
PubMed Link: 16600026
Variant Present in the following documents:
  • Main text
  • 1465-9921-7-60.pdf
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Variants in the vitamin D receptor gene and asthma.

Bmc Genetics
Wjst, Matthias M
Publication Date: 2005-01-15

Variant appearance in text: rs3819545
PubMed Link: 15651992
Variant Present in the following documents:
  • Main text
  • 1471-2156-6-2.pdf
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