GC c.58+827T>C

Variant ID: 4-72648851-A-G

NM_000583.3(GC):c.58+827T>C

This variant was identified in 38 publications

View GRCh38 version.




Publications:


Vitamin D metabolic pathway genes polymorphisms and vitamin D levels in association with neonatal hyperbilirubinemia in China: a single-center retrospective cohort study.

Bmc Pediatrics
Zhou, Weiwei W; Wang, Ping P; Bai, Yanrui Y; Zhang, Ying Y; Shu, Jianbo J; Liu, Yang Y
Publication Date: 2023-05-31

Variant appearance in text: rs2298849
PubMed Link: 37259065
Variant Present in the following documents:
  • Main text
  • 12887_2023_Article_4086.pdf
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The genetic and epigenetic contributions to the development of nutritional rickets.

Frontiers In Endocrinology
Ogunmwonyi, Innocent I; Adebajo, Adewale A; Wilkinson, Jeremy Mark JM
Publication Date: 2022

Variant appearance in text: rs2298849
PubMed Link: 36619587
Variant Present in the following documents:
  • Main text
  • fendo-13-1059034.pdf
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Upregulation of Irisin and Vitamin D-Binding Protein Concentrations by Increasing Maternal 25-Hydrovitamin D Concentrations in Combination with Specific Genotypes of Vitamin D-Binding Protein Polymorphisms.

Nutrients
Karras, Spyridon N SN; Dursun, Erdinç E; Alaylıoglu, Merve M; Gezen-Ak, Duygu D; Al Anouti, Fatme F; Pilz, Stefan S; Pludowski, Pawel P; Jude, Edward E; Kotsa, Kalliopi K
Publication Date: 2021-12-26

Variant appearance in text: rs2298849
PubMed Link: 35010965
Variant Present in the following documents:
  • Main text
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Upregulation of Irisin and Vitamin D-Binding Protein Concentrations by Increasing Maternal 25-Hydrovitamin D Concentrations in Combination with Specific Genotypes of Vitamin D-Binding Protein Polymorphisms.

Nutrients
Karras, Spyridon N SN; Dursun, Erdinç E; Alaylıoglu, Merve M; Gezen-Ak, Duygu D; Al Anouti, Fatme F; Pilz, Stefan S; Pludowski, Pawel P; Jude, Edward E; Kotsa, Kalliopi K
Publication Date: 2021-12-26

Variant appearance in text: rs2298849
PubMed Link: 35010965
Variant Present in the following documents:
  • Main text
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The Association of Gene Variants in the Vitamin D Metabolic Pathway and Its Interaction with Vitamin D on Gestational Diabetes Mellitus: A Prospective Cohort Study.

Nutrients
Mo, Minjia M; Shao, Bule B; Xin, Xing X; Luo, Wenliang W; Si, Shuting S; Jiang, Wen W; Wang, Shuojia S; Shen, Yu Y; Wu, Jinhua J; Yu, Yunxian Y
Publication Date: 2021-11-24

Variant appearance in text: rs2298849
PubMed Link: 34959770
Variant Present in the following documents:
  • Main text
  • nutrients-13-04220.pdf
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The Association of Gene Variants in the Vitamin D Metabolic Pathway and Its Interaction with Vitamin D on Gestational Diabetes Mellitus: A Prospective Cohort Study.

Nutrients
Mo, Minjia M; Shao, Bule B; Xin, Xing X; Luo, Wenliang W; Si, Shuting S; Jiang, Wen W; Wang, Shuojia S; Shen, Yu Y; Wu, Jinhua J; Yu, Yunxian Y
Publication Date: 2021-11-24

Variant appearance in text: rs2298849
PubMed Link: 34959770
Variant Present in the following documents:
  • Main text
  • nutrients-13-04220.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: rs2298849
PubMed Link: 34578986
Variant Present in the following documents:
  • Main text
  • nutrients-13-03109.pdf
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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: rs2298849
PubMed Link: 33553043
Variant Present in the following documents:
  • Main text
  • 40200_2020_Article_561.pdf
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Association of vitamin D gene polymorphisms in children with asthma - A systematic review.

Heliyon
Ashok, Narmada N; Kirubakaran, Richard R; Saraswathy, Radha R
Publication Date: 2020-09

Variant appearance in text: rs2298849
PubMed Link: 32939414
Variant Present in the following documents:
  • Main text
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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: rs2298849
PubMed Link: 32884689
Variant Present in the following documents:
  • Main text
  • FSN3-8-4078.pdf
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The Role of Polymorphisms in Vitamin D-Related Genes in Response to Vitamin D Supplementation.

Nutrients
Tomei, Sara S; Singh, Parul P; Mathew, Rebecca R; Mattei, Valentina V; Garand, Mathieu M; Alwakeel, Mariam M; Sharif, Elham E; Al Khodor, Souhaila S
Publication Date: 2020-08-27

Variant appearance in text: rs2298849
PubMed Link: 32867112
Variant Present in the following documents:
  • Main text
  • nutrients-12-02608.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: rs2298849
PubMed Link: 32537819
Variant Present in the following documents:
  • Main text
  • JCLA-34-e23376.pdf
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Vitamin D Metabolism Is Dysregulated in Asthma and Chronic Obstructive Pulmonary Disease.

American Journal Of Respiratory And Critical Care Medicine
Jolliffe, David A DA; Stefanidis, Christos C; Wang, Zhican Z; Kermani, Nazanin Z NZ; Dimitrov, Vassil V; White, John H JH; McDonough, John E JE; Janssens, Wim W; Pfeffer, Paul P; Griffiths, Christopher J CJ; Bush, Andrew A; Guo, Yike Y; Christenson, Stephanie S; Adcock, Ian M IM; Chung, Kian Fan KF; Thummel, Kenneth E KE; Martineau, Adrian R AR
Publication Date: 2020-08-01

Variant appearance in text: rs2298849
PubMed Link: 32186892
Variant Present in the following documents:
  • Main text
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Genotype-independent association between vitamin D deficiency and polycystic ovarian syndrome in Lahore, Pakistan.

Scientific Reports
Lone, Nasira M NM; Riaz, Saba S; Eusaph, Amna Z AZ; Mein, Charles A CA; Wozniak, Eva L EL; Xenakis, Theodoros T; Wu, Zhenqiang Z; Younis, Sidra S; Jolliffe, David A DA; Junaid, Kashaf K; Martineau, Adrian R AR
Publication Date: 2020-02-10

Variant appearance in text: rs2298849
PubMed Link: 32042037
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_59228.pdf
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DBP rs16846876 and rs12512631 polymorphisms are associated with progression to AIDS naïve HIV-infected patients: a retrospective study.

Journal Of Biomedical Science
Jiménez-Sousa, María Ángeles MÁ; Jiménez, José Luis JL; Fernández-Rodríguez, Amanda A; Bellón, José María JM; Rodríguez, Carmen C; Riera, Melchor M; Portilla, Joaquín J; Castro, Ángeles Á; Muñoz-Fernández, María Ángeles MÁ; Resino, Salvador S
Publication Date: 2019-10-23

Variant appearance in text: rs2298849
PubMed Link: 31640710
Variant Present in the following documents:
  • Main text
View BVdb publication page



Vitamin D-Related Genes, Blood Vitamin D Levels and Colorectal Cancer Risk in Western European Populations.

Nutrients
Fedirko, Veronika V; Mandle, Hannah B HB; Zhu, Wanzhe W; Hughes, David J DJ; Siddiq, Afshan A; Ferrari, Pietro P; Romieu, Isabelle I; Riboli, Elio E; Bueno-de-Mesquita, Bas B; van Duijnhoven, Fränzel J B FJB; Siersema, Peter D PD; Tjønneland, Anne A; Olsen, Anja A; Perduca, Vittorio V; Carbonnel, Franck F; Boutron-Ruault, Marie-Christine MC; Kühn, Tilman T; Johnson, Theron T; Krasimira, Aleksandrova A; Trichopoulou, Antonia A; Makrythanasis, Periklis P; Thanos, Dimitris D; Panico, Salvatore S; Krogh, Vittorio V; Sacerdote, Carlotta C; Skeie, Guri G; Weiderpass, Elisabete E; Colorado-Yohar, Sandra S; Sala, Núria N; Barricarte, Aurelio A; Sanchez, Maria-Jose MJ; Quirós, Ramón R; Amiano, Pilar P; Gylling, Björn B; Harlid, Sophia S; Perez-Cornago, Aurora A; Heath, Alicia K AK; Tsilidis, Konstantinos K KK; Aune, Dagfinn D; Freisling, Heinz H; Murphy, Neil N; Gunter, Marc J MJ; Jenab, Mazda M
Publication Date: 2019-08-20

Variant appearance in text: rs2298849
PubMed Link: 31434255
Variant Present in the following documents:
  • Main text
  • nutrients-11-01954.pdf
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DES-Mutation: System for Exploring Links of Mutations and Diseases.

Scientific Reports
Kordopati, Vasiliki V; Salhi, Adil A; Razali, Rozaimi R; Radovanovic, Aleksandar A; Tifratene, Faroug F; Uludag, Mahmut M; Li, Yu Y; Bokhari, Ameerah A; AlSaieedi, Ahdab A; Bin Raies, Arwa A; Van Neste, Christophe C; Essack, Magbubah M; Bajic, Vladimir B VB
Publication Date: 2018-09-06

Variant appearance in text: rs2298849
PubMed Link: 30190574
Variant Present in the following documents:
  • 41598_2018_31439_MOESM1_ESM.xlsx, sheet 6
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Association between Vitamin D Deficiency and Single Nucleotide Polymorphisms in the Vitamin D Receptor and GC Genes and Analysis of Their Distribution in Mexican Postmenopausal Women.

Nutrients
Rivera-Paredez, Berenice B; Macías, Nayeli N; Martínez-Aguilar, Mayeli M MM; Hidalgo-Bravo, Alberto A; Flores, Mario M; Quezada-Sánchez, Amado D AD; Denova-Gutiérrez, Edgar E; Cid, Miguel M; Martínez-Hernández, Angelica A; Orozco, Lorena L; Quiterio, Manuel M; Flores, Yvonne N YN; Salmerón, Jorge J; Velázquez-Cruz, Rafael R
Publication Date: 2018-08-27

Variant appearance in text: rs2298849
PubMed Link: 30150596
Variant Present in the following documents:
  • Main text
  • nutrients-10-01175.pdf
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Deconvoluting the Biological Roles of Vitamin D-Binding Protein During Pregnancy: A Both Clinical and Theoretical Challenge.

Frontiers In Endocrinology
Karras, Spyridon N SN; Koufakis, Theocharis T; Fakhoury, Hana H; Kotsa, Kalliopi K
Publication Date: 2018

Variant appearance in text: rs2298849
PubMed Link: 29875736
Variant Present in the following documents:
  • Main text
  • fendo-09-00259.pdf
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Concerning the vitamin D reference range: pre-analytical and analytical variability of vitamin D measurement.

Biochemia Medica
Ferrari, Davide D; Lombardi, Giovanni G; Banfi, Giuseppe G
Publication Date: 2017-10-15

Variant appearance in text: rs2298849
PubMed Link: 28900363
Variant Present in the following documents:
  • Main text
  • bm-27-3-030501.pdf
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High-Dose Vitamin D3 during Tuberculosis Treatment in Mongolia. A Randomized Controlled Trial.

American Journal Of Respiratory And Critical Care Medicine
Ganmaa, Davaasambuu D; Munkhzul, Baatar B; Fawzi, Wafaie W; Spiegelman, Donna D; Willett, Walter C WC; Bayasgalan, Purev P; Baasansuren, Erkhembayar E; Buyankhishig, Burneebaatar B; Oyun-Erdene, Sereeter S; Jolliffe, David A DA; Xenakis, Theodoros T; Bromage, Sabri S; Bloom, Barry R BR; Martineau, Adrian R AR
Publication Date: 2017-09-01

Variant appearance in text: rs2298849
PubMed Link: 28692301
Variant Present in the following documents:
  • Main text
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Polymorphisms of Vitamin D Signaling Pathway Genes and Calcium-Sensing Receptor Gene in respect to Survival of Hemodialysis Patients: A Prospective Observational Study.

International Journal Of Endocrinology
Grzegorzewska, Alicja E AE; Świderska, Monika K MK; Mostowska, Adrianna A; Warchoł, Wojciech W; Jagodziński, Paweł P PP
Publication Date: 2016

Variant appearance in text: rs2298849
PubMed Link: 27642296
Variant Present in the following documents:
  • Main text
  • IJE2016-2383216.pdf
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Polymorphic variants in the vitamin D pathway genes and the risk of ovarian cancer among non-carriers of BRCA1/BRCA2 mutations.

Oncology Letters
Mostowska, Adrianna A; Sajdak, Stefan S; Pawlik, Piotr P; Lianeri, Margarita M; Jagodzinski, Paweł P PP
Publication Date: 2016-02

Variant appearance in text: rs2298849
PubMed Link: 26893716
Variant Present in the following documents:
  • Main text
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Association of Retinoid X Receptor Alpha Gene Polymorphism with Clinical Course of Chronic Glomerulonephritis.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Grzegorzewska, Alicja E AE; Ostromecki, Grzegorz G; Zielińska, Paulina P; Mostowska, Adrianna A; Niemir, Zofia Z; Polcyn-Adamczak, Magdalena M; Pawlik, Magdalena M; Sowińska, Anna A; Jagodziński, Paweł P PP
Publication Date: 2015-11-27

Variant appearance in text: rs2298849
PubMed Link: 26610845
Variant Present in the following documents:
  • Main text
  • medscimonit-21-3671.pdf
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T-cell cytokine gene polymorphisms and vitamin D pathway gene polymorphisms in end-stage renal disease due to type 2 diabetes mellitus nephropathy: comparisons with health status and other main causes of end-stage renal disease.

Journal Of Diabetes Research
Grzegorzewska, Alicja E AE; Ostromecki, Grzegorz G; Zielińska, Paulina P; Mostowska, Adrianna A; Jagodziński, Paweł P PP
Publication Date: 2014

Variant appearance in text: rs2298849
PubMed Link: 25587543
Variant Present in the following documents:
  • Main text
  • JDR2014-120317.pdf
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Common vitamin D pathway gene variants reveal contrasting effects on serum vitamin D levels in African Americans and European Americans.

Human Genetics
Batai, Ken K; Murphy, Adam B AB; Shah, Ebony E; Ruden, Maria M; Newsome, Jennifer J; Agate, Sara S; Dixon, Michael A MA; Chen, Hua Yun HY; Deane, Leslie A LA; Hollowell, Courtney M P CM; Ahaghotu, Chiledum C; Kittles, Rick A RA
Publication Date: 2014-11

Variant appearance in text: rs2298849
PubMed Link: 25085266
Variant Present in the following documents:
  • Main text
  • 439_2014_Article_1472.pdf
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Genetic variants in CYP2R1, CYP24A1, and VDR modify the efficacy of vitamin D3 supplementation for increasing serum 25-hydroxyvitamin D levels in a randomized controlled trial.

The Journal Of Clinical Endocrinology And Metabolism
Barry, Elizabeth L EL; Rees, Judy R JR; Peacock, Janet L JL; Mott, Leila A LA; Amos, Christopher I CI; Bostick, Roberd M RM; Figueiredo, Jane C JC; Ahnen, Dennis J DJ; Bresalier, Robert S RS; Burke, Carol A CA; Baron, John A JA
Publication Date: 2014-10

Variant appearance in text: rs2298849
PubMed Link: 25070320
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in vitamin D-related genes and risk of uterine leiomyomata.

Fertility And Sterility
Wise, Lauren A LA; Ruiz-Narváez, Edward A EA; Haddad, Stephen A SA; Rosenberg, Lynn L; Palmer, Julie R JR
Publication Date: 2014-08

Variant appearance in text: rs2298849
PubMed Link: 24890271
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common variants in CYP2R1 and GC genes predict vitamin D concentrations in healthy Danish children and adults.

Plos One
Nissen, Janna J; Rasmussen, Lone Banke LB; Ravn-Haren, Gitte G; Andersen, Elisabeth Wreford EW; Hansen, Bettina B; Andersen, Rikke R; Mejborn, Heddie H; Madsen, Katja Howarth KH; Vogel, Ulla U
Publication Date: 2014

Variant appearance in text: rs2298849
PubMed Link: 24587115
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic associations with 25-hydroxyvitamin D deficiency in HIV-1-infected youth: fine-mapping for the GC/DBP gene that encodes the vitamin D-binding protein.

Frontiers In Genetics
Porter, Travis R TR; Li, Xuelin X; Stephensen, Charles B CB; Mulligan, Kathleen K; Rutledge, Brandy B; Flynn, Patricia M PM; Lujan-Zilbermann, Jorge J; Hazra, Rohan R; Wilson, Craig M CM; Havens, Peter L PL; Tang, Jianming J; ,
Publication Date: 2013

Variant appearance in text: rs2298849
PubMed Link: 24294218
Variant Present in the following documents:
  • Main text
  • fgene-04-00234.pdf
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Polymorphisms in GC and NADSYN1 Genes are associated with vitamin D status and metabolic profile in Non-diabetic adults.

Bmc Endocrine Disorders
Foucan, Lydia L; Vélayoudom-Céphise, Fritz-Line FL; Larifla, Laurent L; Armand, Christophe C; Deloumeaux, Jacqueline J; Fagour, Cedric C; Plumasseau, Jean J; Portlis, Marie-Line ML; Liu, Longjian L; Bonnet, Fabrice F; Ducros, Jacques J
Publication Date: 2013-09-29

Variant appearance in text: rs2298849
PubMed Link: 24073860
Variant Present in the following documents:
  • Main text
View BVdb publication page



Relationship between polymorphisms in vitamin D metabolism-related genes and the risk of rickets in Han Chinese children.

Bmc Medical Genetics
Zhang, Yuling Y; Yang, Shufen S; Liu, Ye Y; Ren, Lihong L
Publication Date: 2013-09-30

Variant appearance in text: rs2298849
PubMed Link: 24073854
Variant Present in the following documents:
  • Main text
  • 1471-2350-14-101.pdf
View BVdb publication page



Vitamin D for health: a global perspective.

Mayo Clinic Proceedings
Hossein-nezhad, Arash A; Holick, Michael F MF
Publication Date: 2013-07

Variant appearance in text: rs2298849
PubMed Link: 23790560
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: rs2298849
PubMed Link: 23381556
Variant Present in the following documents:
  • Main text
View BVdb publication page



Health disparities in endocrine disorders: biological, clinical, and nonclinical factors--an Endocrine Society scientific statement.

The Journal Of Clinical Endocrinology And Metabolism
Golden, Sherita Hill SH; Brown, Arleen A; Cauley, Jane A JA; Chin, Marshall H MH; Gary-Webb, Tiffany L TL; Kim, Catherine C; Sosa, Julie Ann JA; Sumner, Anne E AE; Anton, Blair B
Publication Date: 2012-09

Variant appearance in text: rs2298849
PubMed Link: 22730516
Variant Present in the following documents:
  • Main text
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Genetic and environmental predictors of serum 25-hydroxyvitamin D concentrations among middle-aged and elderly Chinese in Singapore.

The British Journal Of Nutrition
Robien, Kim K; Butler, Lesley M LM; Wang, Renwei R; Beckman, Kenneth B KB; Walek, Dinesha D; Koh, Woon-Puay WP; Yuan, Jian-Min JM
Publication Date: 2013-02-14

Variant appearance in text: rs2298849
PubMed Link: 22583563
Variant Present in the following documents:
  • Main text
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Common variation in vitamin D pathway genes predicts circulating 25-hydroxyvitamin D Levels among African Americans.

Plos One
Signorello, Lisa B LB; Shi, Jiajun J; Cai, Qiuyin Q; Zheng, Wei W; Williams, Scott M SM; Long, Jirong J; Cohen, Sarah S SS; Li, Guoliang G; Hollis, Bruce W BW; Smith, Jeffrey R JR; Blot, William J WJ
Publication Date: 2011

Variant appearance in text: rs2298849
PubMed Link: 22205958
Variant Present in the following documents:
  • Main text
  • pone.0028623.pdf
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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: rs2298849
PubMed Link: 21357399
Variant Present in the following documents:
  • Main text
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Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk.

Carcinogenesis
Ahn, Jiyoung J; Albanes, Demetrius D; Berndt, Sonja I SI; Peters, Ulrike U; Chatterjee, Nilanjan N; Freedman, Neal D ND; Abnet, Christian C CC; Huang, Wen-Yi WY; Kibel, Adam S AS; Crawford, E David ED; Weinstein, Stephanie J SJ; Chanock, Stephen J SJ; Schatzkin, Arthur A; Hayes, Richard B RB; ,
Publication Date: 2009-05

Variant appearance in text: rs2298849
PubMed Link: 19255064
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: rs2298849
PubMed Link: 18593774
Variant Present in the following documents:
  • Main text
View BVdb publication page