VDR c.*461G>T

Variant ID: 12-48238068-C-A

NM_000376.2(VDR):c.*461G>T

This variant was identified in 33 publications

View GRCh38 version.




Publications:


Association of Single-Nucleotide Polymorphisms in the VDR Gene with Tuberculosis and Infection of Beijing Genotype Mycobacterium tuberculosis.

Infection And Drug Resistance
Yu, Jinjie J; Liu, Mengwen M; Mijiti, Xiaokaiti X; Liu, Haican H; Wang, Quan Q; Yin, Chunjie C; Anwaierjiang, Aiketaguli A; Xu, Miao M; Li, Machao M; Deng, Lele L; Xiao, Hui H; Zhao, Xiuqin X; Wan, Kanglin K; Li, Guilian G; Yuan, Xiuqin X
Publication Date: 2023

Variant appearance in text: rs3847987
PubMed Link: 37235072
Variant Present in the following documents:
  • Main text
  • idr-16-3157.pdf
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Impact of vitamin D receptor polymorphisms in selected metabolic disorders.

Current Opinion In Clinical Nutrition And Metabolic Care
Fronczek, Martyna M; Osadnik, Tadeusz T; Banach, Maciej M
Publication Date: 2023-05-04

Variant appearance in text: rs3847987
PubMed Link: 37144463
Variant Present in the following documents:
  • Main text
  • cocnm-26-316.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: rs3847987
PubMed Link: 35411730
Variant Present in the following documents:
  • jkms-37-e110.pdf
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SNPs in miRNAs and Target Sequences: Role in Cancer and Diabetes.

Frontiers In Genetics
Chhichholiya, Yogita Y; Suryan, Aman Kumar AK; Suman, Prabhat P; Munshi, Anjana A; Singh, Sandeep S
Publication Date: 2021

Variant appearance in text: rs3847987
PubMed Link: 34925466
Variant Present in the following documents:
  • Main text
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Vitamin D Metabolic Pathway Genes Polymorphisms and Their Methylation Levels in Association With Rheumatoid Arthritis.

Frontiers In Immunology
Zhang, Tian-Ping TP; Li, Hong-Miao HM; Huang, Qian Q; Wang, Li L; Li, Xiao-Mei XM
Publication Date: 2021

Variant appearance in text: rs3847987
PubMed Link: 34925313
Variant Present in the following documents:
  • Main text
  • fimmu-12-731565.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: rs3847987
PubMed Link: 34578986
Variant Present in the following documents:
  • Main text
  • nutrients-13-03109.pdf
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Vitamin D Level and Vitamin D Receptor Genetic Variation Were Involved in the Risk of Non-Alcoholic Fatty Liver Disease: A Case-Control Study.

Frontiers In Endocrinology
Zhang, Ru R; Wang, Minxian M; Wang, Min M; Zhang, Liuxin L; Ding, Yajie Y; Tang, Zongzhe Z; Fu, Zuqiang Z; Fan, Haozhi H; Zhang, Wei W; Wang, Jie J
Publication Date: 2021

Variant appearance in text: rs3847987
PubMed Link: 34421816
Variant Present in the following documents:
  • Main text
  • fendo-12-648844.pdf
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Association of vitamin D receptor polymorphisms with metabolic syndrome-related components: A cross-sectional study.

Journal Of Clinical Laboratory Analysis
Jin, Ting T; Lu, Weina W; Gong, Xiaoqin X; Zhou, Jiaqiang J; Wu, Fang F
Publication Date: 2021-07

Variant appearance in text: rs3847987
PubMed Link: 34008880
Variant Present in the following documents:
  • Main text
  • JCLA-35-e23829.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: rs3847987
PubMed Link: 33633666
Variant Present in the following documents:
  • Main text
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The Associations Between Vitamin D Receptor BsmI and ApaI Polymorphisms and Obesity in Korean Patients with Type 2 Diabetes Mellitus.

Diabetes, Metabolic Syndrome And Obesity : Targets And Therapy
Nam, Sang Won SW; Choi, Jinwoo J; Jeon, Hyun Jeong HJ; Oh, Tae Keun TK; Lee, Dong-Hwa DH
Publication Date: 2021

Variant appearance in text: rs3847987
PubMed Link: 33603421
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: rs3847987
PubMed Link: 33553043
Variant Present in the following documents:
  • Main text
  • 40200_2020_Article_561.pdf
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Assessing vitamin D related genetic variants, status, and influence factors in pregnant women in Eastern and Central China.

Food Science & Nutrition
Qiu, Xiaofei X; Chen, Xinhao X; Zuo, Shangming S; Ji, Yuan Y; Wen, Zheng Z; Wei, Linna L; Wu, Shouxin S; Diao, Le L; Li, Bo B; Zhao, Jiangman J; Chen, Tianrui T
Publication Date: 2020-08

Variant appearance in text: rs3847987
PubMed Link: 32884689
Variant Present in the following documents:
  • Main text
  • FSN3-8-4078.pdf
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Association between variants in vitamin D-binding protein gene and vitamin D deficiency among pregnant women in china.

Journal Of Clinical Laboratory Analysis
Dong, Jinju J; Zhou, Qinghong Q; Wang, Jinxiu J; Lu, Yangqing Y; Li, Jun J; Wang, Lijun L; Wang, Lingyun L; Meng, Peng P; Li, Fei F; Zhou, Hongmei H; Liu, Congli C; Wang, Ting T; Wang, Juan J; Mi, Yi Y; Xu, Wang-Yang WY; Deng, Jie J
Publication Date: 2020-09

Variant appearance in text: rs3847987
PubMed Link: 32537819
Variant Present in the following documents:
  • Main text
  • JCLA-34-e23376.pdf
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Genetics of Degenerative Cervical Myelopathy: A Systematic Review and Meta-Analysis of Candidate Gene Studies.

Journal Of Clinical Medicine
Pope, Daniel H DH; Davies, Benjamin M BM; Mowforth, Oliver D OD; Bowden, A Ramsay AR; Kotter, Mark R N MRN
Publication Date: 2020-01-20

Variant appearance in text: rs3847987
PubMed Link: 31968564
Variant Present in the following documents:
  • Main text
  • jcm-09-00282.pdf
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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs3847987
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
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MicroRNA-binding site polymorphisms and risk of colorectal cancer: A systematic review and meta-analysis.

Cancer Medicine
Gholami, Morteza M; Larijani, Bagher B; Sharifi, Farshad F; Hasani-Ranjbar, Shirin S; Taslimi, Reza R; Bastami, Milad M; Atlasi, Rasha R; Amoli, Mahsa M MM
Publication Date: 2019-12

Variant appearance in text: rs3847987
PubMed Link: 31637880
Variant Present in the following documents:
  • Main text
  • CAM4-8-7477.pdf
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The relationship between hypertriglyceridemic-waist phenotype and vitamin D status in type 2 diabetes.

Diabetes, Metabolic Syndrome And Obesity : Targets And Therapy
Ma, Chun-Ming CM; Yin, Fu-Zai FZ
Publication Date: 2019

Variant appearance in text: rs3847987
PubMed Link: 31118717
Variant Present in the following documents:
  • Main text
  • dmso-12-537.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: rs3847987
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Characteristic and influencing factors of Taqman genotyping calling error.

Journal Of Clinical Laboratory Analysis
Yu, Songcheng S; Li, Xing X; Liu, Xinxin X; Wang, Yan Y; Yu, Fei F; Xue, Yuan Y; Mao, Zhenxing Z; Wang, Chongjian C; Li, Wenjie W
Publication Date: 2018-11

Variant appearance in text: rs3847987
PubMed Link: 29943492
Variant Present in the following documents:
  • Main text
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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs3847987
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
  • oncotarget-08-95841-s002.xlsx, sheet 4
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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: rs3847987
PubMed Link: 28765616
Variant Present in the following documents:
  • Main text
  • bjc2017242a.pdf
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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: rs3847987
PubMed Link: 27736940
Variant Present in the following documents:
  • Main text
  • pone.0164648.pdf
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Pharmacogenetic analysis of cinacalcet response in secondary hyperparathyroidism patients.

Drug Design, Development And Therapy
Jeong, Sohyun S; Kim, In-Wha IW; Oh, Kook-Hwan KH; Han, Nayoung N; Joo, Kwon Wook KW; Kim, Hyo Jin HJ; Oh, Jung Mi JM
Publication Date: 2016

Variant appearance in text: rs3847987
PubMed Link: 27468225
Variant Present in the following documents:
  • Main text
  • dddt-10-2211.pdf
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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: rs3847987
PubMed Link: 24641809
Variant Present in the following documents:
  • Main text
  • 1471-2156-15-37.pdf
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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: rs3847987
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
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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: rs3847987
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: rs3847987
PubMed Link: 22155603
Variant Present in the following documents:
  • Main text
  • 1479-7364-5-6-538.pdf
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: rs3847987
PubMed Link: 21548019
Variant Present in the following documents:
  • Main text
View BVdb publication page



Vitamin D receptor polymorphisms in patients with cutaneous melanoma.

International Journal Of Cancer
Orlow, Irene I; Roy, Pampa P; Reiner, Anne S AS; Yoo, Sarah S; Patel, Himali H; Paine, Susan S; Armstrong, Bruce K BK; Kricker, Anne A; Marrett, Loraine D LD; Millikan, Robert C RC; Thomas, Nancy E NE; Gruber, Stephen B SB; Anton-Culver, Hoda H; Rosso, Stefano S; Gallagher, Richard P RP; Dwyer, Terence T; Kanetsky, Peter A PA; Busam, Klaus K; From, Lynn L; Begg, Colin B CB; Berwick, Marianne M; ,
Publication Date: 2012-01-15

Variant appearance in text: rs3847987
PubMed Link: 21365644
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs3847987
PubMed Link: 21309754
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: rs3847987
PubMed Link: 20086113
Variant Present in the following documents:
  • Main text
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Genetic and environmental determinants of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels in Hispanic and African Americans.

The Journal Of Clinical Endocrinology And Metabolism
Engelman, Corinne D CD; Fingerlin, Tasha E TE; Langefeld, Carl D CD; Hicks, Pamela J PJ; Rich, Stephen S SS; Wagenknecht, Lynne E LE; Bowden, Donald W DW; Norris, Jill M JM
Publication Date: 2008-09

Variant appearance in text: rs3847987
PubMed Link: 18593774
Variant Present in the following documents:
  • Main text
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Promoter and 3'-untranslated-region haplotypes in the vitamin d receptor gene predispose to osteoporotic fracture: the rotterdam study.

American Journal Of Human Genetics
Fang, Yue Y; van Meurs, Joyce B J JB; d'Alesio, Arnold A; Jhamai, Mila M; Zhao, Hongyan H; Rivadeneira, Fernando F; Hofman, Albert A; van Leeuwen, Johannes P T JP; Jehan, Frédéric F; Pols, Huibert A P HA; Uitterlinden, André G AG
Publication Date: 2005-11

Variant appearance in text: rs3847987
PubMed Link: 16252240
Variant Present in the following documents:
  • Main text
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