VDR c.278-71C>G

Variant ID: 12-48251542-G-C

NM_000376.2(VDR):c.278-71C>G

This variant was identified in 17 publications

View GRCh38 version.




Publications:


VDR Polymorphic Variants Are Related to Improvements in CRP and Disease Activity in Patients with Axial Spondyloarthritis That Undergo Anti-TNF Treatment.

Genes
Bugaj, Bartosz B; Wielińska, Joanna J; Świerkot, Jerzy J; Bogunia-Kubik, Katarzyna K; Górna, Katarzyna K
Publication Date: 2022-10-16

Variant appearance in text: rs11168267
PubMed Link: 36292758
Variant Present in the following documents:
  • Main text
  • genes-13-01873.pdf
View BVdb publication page



Peripheral vitamin D levels in ankylosing spondylitis: A systematic review and meta-analysis.

Frontiers In Medicine
Diao, Maohui M; Peng, Jun J; Wang, Daidong D; Wang, Hongbo H
Publication Date: 2022

Variant appearance in text: rs11168267
PubMed Link: 36091702
Variant Present in the following documents:
  • Main text
  • fmed-09-972586.pdf
View BVdb publication page



Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: rs11168267
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 1
View BVdb publication page



The Influence of Vitamin D Receptor Gene Polymorphisms in Spondyloarthritis.

International Journal Of Inflammation
Neves, Janisleya Silva Ferreira JSF; Visentainer, Jeane Eliete Laguila JEL; Reis, Denise Manjurma da Silva DMDS; Rocha Loures, Marco Antonio MA; Alves, Hugo Vicentin HV; Lara-Armi, Fernanda Formaggi FF; de Alencar, Josiane Bazzo JB; Valentin Zacarias, Joana Maira JM; Sell, Ana Maria AM
Publication Date: 2020

Variant appearance in text: rs11168267
PubMed Link: 33376592
Variant Present in the following documents:
  • Main text
  • IJI2020-8880879.pdf
View BVdb publication page



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: rs11168267
PubMed Link: 31637880
Variant Present in the following documents:
  • Main text
  • CAM4-8-7477.pdf
View BVdb publication page



Polymorphic Variations in VDR Gene in Saudi Women with and Without Polycystic Ovary Syndrome (PCOS) and Significant Influence of Seven Polymorphic Sites on Anthropometric and Hormonal Parameters.

Journal Of Medical Biochemistry
Al Thomali, Arwa A; Daghestani, Maha H MH; Daghestani, Mazin H MH; Kaya, Namik N; Warsy, Arjumand A
Publication Date: 2018-12

Variant appearance in text: rs11168267
PubMed Link: 30584400
Variant Present in the following documents:
  • Main text
  • jomb-37-415.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: rs11168267
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
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: rs11168267
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: rs11168267
PubMed Link: 28830874
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs11168267
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
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: rs11168267
PubMed Link: 27736940
Variant Present in the following documents:
  • Main text
  • pone.0164648.pdf
View BVdb publication page



Serum vitamin D metabolites in colorectal cancer patients receiving cholecalciferol supplementation: correlation with polymorphisms in the vitamin D genes.

Hormones & Cancer
Muindi, Josephia R JR; Adjei, Araba A AA; Wu, Zengru R ZR; Olson, Isabel I; Huang, Huayi H; Groman, Adrienne A; Tian, Lili L; Singh, Prashant K PK; Sucheston, Lara E LE; Johnson, Candace S CS; Trump, Donald L DL; Fakih, Marwan G MG
Publication Date: 2013-08

Variant appearance in text: rs11168267
PubMed Link: 23456391
Variant Present in the following documents:
  • Main text
  • 12672_2013_Article_139.pdf
View BVdb publication page



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: rs11168267
PubMed Link: 23413917
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: rs11168267
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: rs11168267
PubMed Link: 22046258
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: rs11168267
PubMed Link: 20086113
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs11168267
PubMed Link: 19956101
Variant Present in the following documents:
  • Main text
View BVdb publication page