ORMDL3 c.-23+930A>G

Variant ID: 17-38082807-T-C

NM_139280.4(ORMDL3):c.-23+930A>G

This variant was identified in 33 publications

View GRCh38 version.




Publications:


Understanding and controlling asthma in Latin America: A review of recent research informed by the SCAALA programme.

Clinical And Translational Allergy
Cooper, Philip J PJ; Figueiredo, Camila A CA; Rodriguez, Alejandro A; Dos Santos, Leticia Marques LM; Ribeiro-Silva, Rita C RC; Carneiro, Valdirene Leao VL; Costa, Gustavo G; Magalhães, Thiago T; Dos Santos de Jesus, Talita T; Rios, Raimon R; da Silva, Hugo Bernardino F HBF; Costa, Ryan R; Chico, Martha E ME; Vaca, Maritza M; Alcantara-Neves, Neuza N; Rodrigues, Laura C LC; Cruz, Alvaro A AA; Barreto, Mauricio L ML
Publication Date: 2023-03

Variant appearance in text: rs12603332
PubMed Link: 36973960
Variant Present in the following documents:
  • Main text
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GWAS meta-analyses clarify genetics of cervical phenotypes and inform risk stratification for cervical cancer.

Human Molecular Genetics
Koel, Mariann M; Võsa, Urmo U; Jõeloo, Maarja M; Läll, Kristi K; Gualdo, Natàlia Pujol NP; Laivuori, Hannele H; Lemmelä, Susanna S; , ; Daly, Mark M; Palta, Priit P; Mägi, Reedik R; Laisk, Triin T
Publication Date: 2023-03-16

Variant appearance in text: rs12603332
PubMed Link: 36929174
Variant Present in the following documents:
  • Main text
  • ddad043.pdf
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Genomic Risk Factors for Cervical Cancer.

Cancers
Ramachandran, Dhanya D; Dörk, Thilo T
Publication Date: 2021-10-13

Variant appearance in text: rs12603332
PubMed Link: 34680286
Variant Present in the following documents:
  • Main text
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Macrophage Receptor With Collagenous Structure Polymorphism and Recurrent Respiratory Infections and Wheezing During Infancy: A 5-Years Follow-Up Study.

Frontiers In Pediatrics
Savino, Francesco F; Pellegrino, Francesco F; Daprà, Valentina V; Calvi, Cristina C; Alliaudi, Carla C; Montanari, Paola P; Galliano, Ilaria I; Bergallo, Massimiliano M
Publication Date: 2021

Variant appearance in text: rs12603332
PubMed Link: 34386467
Variant Present in the following documents:
  • Main text
  • fped-09-666423.pdf
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A review of epigenetic changes in asthma: methylation and acetylation.

Clinical Epigenetics
Sheikhpour, Mojgan M; Maleki, Mobina M; Ebrahimi Vargoorani, Maryam M; Amiri, Vahid V
Publication Date: 2021-03-29

Variant appearance in text: rs12603332
PubMed Link: 33781317
Variant Present in the following documents:
  • Main text
  • 13148_2021_Article_1049.pdf
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Understanding How Asthma Starts: Longitudinal Patterns of Wheeze and the Chromosome 17q Locus.

American Journal Of Respiratory And Critical Care Medicine
Koppelman, Gerard H GH; Kersten, Elin T G ETG
Publication Date: 2021-04-01

Variant appearance in text: rs12603332
PubMed Link: 33621469
Variant Present in the following documents:
  • Main text
  • rccm.202102-0443ED.pdf
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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs12603332
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
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Interweaving Between Genetic and Epigenetic Studies on Childhood Asthma.

Epigenetics Insights
Rathod, Aniruddha A; Duan, Jiasong J; Zhang, Hongmei H; Holloway, John W JW; Ewart, Susan S; Arshad, S Hasan SH; Karmaus, Wilfried W
Publication Date: 2020

Variant appearance in text: rs12603332
PubMed Link: 32754683
Variant Present in the following documents:
  • Main text
  • 10.1177_2516865720923395.pdf
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CRISPRi-mediated functional analysis of lung disease-associated loci at non-coding regions.

Nar Genomics And Bioinformatics
Stuart, William D WD; Guo, Minzhe M; Fink-Baldauf, Iris M IM; Coleman, Alan M AM; Clancy, John P JP; Mall, Marcus A MA; Lim, Foong-Yen FY; Brewington, John J JJ; Maeda, Yutaka Y
Publication Date: 2020-06

Variant appearance in text: rs12603332
PubMed Link: 32500120
Variant Present in the following documents:
  • Main text
  • lqaa036.pdf
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Genetics and Epigenetics of Atopic Dermatitis: An Updated Systematic Review.

Genes
Martin, Maria J MJ; Estravís, Miguel M; García-Sánchez, Asunción A; Dávila, Ignacio I; Isidoro-García, María M; Sanz, Catalina C
Publication Date: 2020-04-18

Variant appearance in text: rs12603332
PubMed Link: 32325630
Variant Present in the following documents:
  • Main text
  • genes-11-00442.pdf
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At last - linking ORMDL3 polymorphisms, decreased sphingolipid synthesis, and asthma susceptibility.

The Journal Of Clinical Investigation
Wills-Karp, Marsha M
Publication Date: 2020-02-03

Variant appearance in text: rs12603332
PubMed Link: 31929192
Variant Present in the following documents:
  • Main text
View BVdb publication page



Decreased sphingolipid synthesis in children with 17q21 asthma-risk genotypes.

The Journal Of Clinical Investigation
Ono, Jennie G JG; Kim, Benjamin I BI; Zhao, Yize Y; Christos, Paul J PJ; Tesfaigzi, Yohannes Y; Worgall, Tilla S TS; Worgall, Stefan S
Publication Date: 2020-02-03

Variant appearance in text: rs12603332
PubMed Link: 31929190
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of longitudinal wheeze phenotypes from infancy to adolescence in Project Viva, a prebirth cohort study.

The Journal Of Allergy And Clinical Immunology
Sordillo, Joanne E JE; Coull, Brent A BA; Rifas-Shiman, Sheryl L SL; Wu, Ann Chen AC; Lutz, Sharon M SM; Hivert, Marie-France MF; Oken, Emily E; Gold, Diane R DR
Publication Date: 2020-02

Variant appearance in text: rs12603332
PubMed Link: 31705908
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of ADAM33 gene's single nucleotide polymorphism variants against asthma and the unique pattern of inheritance in Northern and Central Punjab, Pakistan.

Saudi Medical Journal
Ghani, Muhammad U MU; Sabar, Muhammad F MF; Bano, Iqbal I; Shahid, Mariam M; Akram, Muhammad M; Khalid, Ifrah I; Maryam, Alishba A; Khan, Muhammad U MU
Publication Date: 2019-08

Variant appearance in text: rs12603332
PubMed Link: 31423513
Variant Present in the following documents:
  • SaudiMedJ-40-774.pdf
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Variation in doses and duration of particulate matter exposure in bronchial epithelial cells results in upregulation of different genes associated with airway disorders.

Toxicology In Vitro : An International Journal Published In Association With Bibra
Tripathi, Priya P; Deng, Furong F; Scruggs, Anne M AM; Chen, Yahong Y; Huang, Steven K SK
Publication Date: 2018-09

Variant appearance in text: rs12603332
PubMed Link: 29753051
Variant Present in the following documents:
  • Main text
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Genetic Mechanisms of Asthma and the Implications for Drug Repositioning.

Genes
Huo, Yue Y; Zhang, Hong-Yu HY
Publication Date: 2018-05-03

Variant appearance in text: rs12603332
PubMed Link: 29751569
Variant Present in the following documents:
  • Main text
  • genes-09-00237.pdf
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A decade of research on the 17q12-21 asthma locus: Piecing together the puzzle.

The Journal Of Allergy And Clinical Immunology
Stein, Michelle M MM; Thompson, Emma E EE; Schoettler, Nathan N; Helling, Britney A BA; Magnaye, Kevin M KM; Stanhope, Catherine C; Igartua, Catherine C; Morin, Andréanne A; Washington, Charles C; Nicolae, Dan D; Bønnelykke, Klaus K; Ober, Carole C
Publication Date: 2018-09

Variant appearance in text: rs12603332
PubMed Link: 29307657
Variant Present in the following documents:
  • Main text
  • nihms-1506022.pdf
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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: rs12603332
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Environment Changes Genetic Effects on Respiratory Conditions and Allergic Phenotypes.

Scientific Reports
Song, Yong Y; Schwager, Michelle J MJ; Backer, Vibeke V; Guo, Jing J; Porsbjerg, Celeste C; Khoo, Siew-Kim SK; Laing, Ingrid A IA; Moses, Eric K EK; LeSouëf, Peter P; Zhang, Guicheng Brad GB
Publication Date: 2017-07-24

Variant appearance in text: rs12603332
PubMed Link: 28740106
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_6791.pdf
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A meta-analysis of genome-wide association studies of asthma in Puerto Ricans.

The European Respiratory Journal
Yan, Qi Q; Brehm, John J; Pino-Yanes, Maria M; Forno, Erick E; Lin, Jerome J; Oh, Sam S SS; Acosta-Perez, Edna E; Laurie, Cathy C CC; Cloutier, Michelle M MM; Raby, Benjamin A BA; Stilp, Adrienne M AM; Sofer, Tamar T; Hu, Donglei D; Huntsman, Scott S; Eng, Celeste S CS; Conomos, Matthew P MP; Rastogi, Deepa D; Rice, Kenneth K; Canino, Glorisa G; Chen, Wei W; Barr, R Graham RG; Burchard, Esteban G EG; Celedón, Juan C JC
Publication Date: 2017-05

Variant appearance in text: rs12603332
PubMed Link: 28461288
Variant Present in the following documents:
  • Main text
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Association of novel polymorphisms in TMEM39A gene with systemic lupus erythematosus in a Chinese Han population.

Bmc Medical Genetics
Cai, Xinze X; Huang, Wenyue W; Liu, Xudong X; Wang, Lining L; Jiang, Yi Y
Publication Date: 2017-04-20

Variant appearance in text: rs12603332
PubMed Link: 28427360
Variant Present in the following documents:
  • Main text
  • 12881_2017_Article_405.pdf
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17q21 asthma-risk variants switch CTCF binding and regulate IL-2 production by T cells.

Nature Communications
Schmiedel, Benjamin Joachim BJ; Seumois, Grégory G; Samaniego-Castruita, Daniela D; Cayford, Justin J; Schulten, Veronique V; Chavez, Lukas L; Ay, Ferhat F; Sette, Alessandro A; Peters, Bjoern B; Vijayanand, Pandurangan P
Publication Date: 2016-11-16

Variant appearance in text: rs12603332
PubMed Link: 27848966
Variant Present in the following documents:
  • Main text
  • ncomms13426.pdf
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Association between ORMDL3 polymorphism and susceptibility to asthma: a meta-analysis.

International Journal Of Clinical And Experimental Medicine
Shi, Huimin H; Cheng, Dan D; Yi, Lingling L; Huo, Xiaorong X; Zhang, Kan K; Zhen, Guohua G
Publication Date: 2015

Variant appearance in text: rs12603332
PubMed Link: 26064206
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Association of GSDMB and ORMDL3 Gene Polymorphisms With Asthma: A Meta-Analysis.

Allergy, Asthma & Immunology Research
Zhao, Chun-Ni CN; Fan, Ye Y; Huang, Jian-Jun JJ; Zhang, Hai-Xia HX; Gao, Tao T; Wang, Cong C; Wang, Tong T; Hou, Li-Fang LF
Publication Date: 2015-03

Variant appearance in text: rs12603332
PubMed Link: 25729625
Variant Present in the following documents:
  • Main text
  • aair-7-175.pdf
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Risk of childhood asthma is associated with CpG-site polymorphisms, regional DNA methylation and mRNA levels at the GSDMB/ORMDL3 locus.

Human Molecular Genetics
Acevedo, Nathalie N; Reinius, Lovisa E LE; Greco, Dario D; Gref, Anna A; Orsmark-Pietras, Christina C; Persson, Helena H; Pershagen, Göran G; Hedlin, Gunilla G; Melén, Erik E; Scheynius, Annika A; Kere, Juha J; Söderhäll, Cilla C
Publication Date: 2015-02-01

Variant appearance in text: rs12603332
PubMed Link: 25256354
Variant Present in the following documents:
  • Main text
  • ddu479.pdf
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ORMDL3 transgenic mice have increased airway remodeling and airway responsiveness characteristic of asthma.

Journal Of Immunology (Baltimore, Md. : 1950)
Miller, Marina M; Rosenthal, Peter P; Beppu, Andrew A; Mueller, James L JL; Hoffman, Hal M HM; Tam, Arvin B AB; Doherty, Taylor A TA; McGeough, Matthew D MD; Pena, Carla A CA; Suzukawa, Maho M; Niwa, Maho M; Broide, David H DH
Publication Date: 2014-04-15

Variant appearance in text: rs12603332
PubMed Link: 24623133
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rule-based models of the interplay between genetic and environmental factors in childhood allergy.

Plos One
Bornelöv, Susanne S; Sääf, Annika A; Melén, Erik E; Bergström, Anna A; Torabi Moghadam, Behrooz B; Pulkkinen, Ville V; Acevedo, Nathalie N; Orsmark Pietras, Christina C; Ege, Markus M; Braun-Fahrländer, Charlotte C; Riedler, Josef J; Doekes, Gert G; Kabesch, Michael M; van Hage, Marianne M; Kere, Juha J; Scheynius, Annika A; Söderhäll, Cilla C; Pershagen, Göran G; Komorowski, Jan J
Publication Date: 2013

Variant appearance in text: rs12603332
PubMed Link: 24260339
Variant Present in the following documents:
  • pone.0080080.s003.xls, sheet 1
View BVdb publication page



Lung eQTLs to help reveal the molecular underpinnings of asthma.

Plos Genetics
Hao, Ke K; Bossé, Yohan Y; Nickle, David C DC; Paré, Peter D PD; Postma, Dirkje S DS; Laviolette, Michel M; Sandford, Andrew A; Hackett, Tillie L TL; Daley, Denise D; Hogg, James C JC; Elliott, W Mark WM; Couture, Christian C; Lamontagne, Maxime M; Brandsma, Corry-Anke CA; van den Berge, Maarten M; Koppelman, Gerard G; Reicin, Alise S AS; Nicholson, Donald W DW; Malkov, Vladislav V; Derry, Jonathan M JM; Suver, Christine C; Tsou, Jeffrey A JA; Kulkarni, Amit A; Zhang, Chunsheng C; Vessey, Rupert R; Opiteck, Greg J GJ; Curtis, Sean P SP; Timens, Wim W; Sin, Don D DD
Publication Date: 2012

Variant appearance in text: rs12603332
PubMed Link: 23209423
Variant Present in the following documents:
  • Main text
  • pgen.1003029.pdf
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Interaction between genetic and epigenetic variation defines gene expression patterns at the asthma-associated locus 17q12-q21 in lymphoblastoid cell lines.

Human Genetics
Berlivet, Soizik S; Moussette, Sanny S; Ouimet, Manon M; Verlaan, Dominique J DJ; Koka, Vonda V; Al Tuwaijri, Abeer A; Kwan, Tony T; Sinnett, Daniel D; Pastinen, Tomi T; Naumova, Anna K AK
Publication Date: 2012-07

Variant appearance in text: rs12603332
PubMed Link: 22271045
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of genetic variants in chromosome 17q21 and adult-onset asthma in a Chinese Han population.

Bmc Medical Genetics
Fang, Qiurong Q; Zhao, Hailing H; Wang, Aihua A; Gong, Yaoqin Y; Liu, Qiji Q
Publication Date: 2011-10-11

Variant appearance in text: rs12603332
PubMed Link: 21985515
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.

Nature Genetics
Torgerson, Dara G DG; Ampleford, Elizabeth J EJ; Chiu, Grace Y GY; Gauderman, W James WJ; Gignoux, Christopher R CR; Graves, Penelope E PE; Himes, Blanca E BE; Levin, Albert M AM; Mathias, Rasika A RA; Hancock, Dana B DB; Baurley, James W JW; Eng, Celeste C; Stern, Debra A DA; Celedón, Juan C JC; Rafaels, Nicholas N; Capurso, Daniel D; Conti, David V DV; Roth, Lindsey A LA; Soto-Quiros, Manuel M; Togias, Alkis A; Li, Xingnan X; Myers, Rachel A RA; Romieu, Isabelle I; Van Den Berg, David J DJ; Hu, Donglei D; Hansel, Nadia N NN; Hernandez, Ryan D RD; Israel, Elliott E; Salam, Muhammad T MT; Galanter, Joshua J; Avila, Pedro C PC; Avila, Lydiana L; Rodriquez-Santana, Jose R JR; Chapela, Rocio R; Rodriguez-Cintron, William W; Diette, Gregory B GB; Adkinson, N Franklin NF; Abel, Rebekah A RA; Ross, Kevin D KD; Shi, Min M; Faruque, Mezbah U MU; Dunston, Georgia M GM; Watson, Harold R HR; Mantese, Vito J VJ; Ezurum, Serpil C SC; Liang, Liming L; Ruczinski, Ingo I; Ford, Jean G JG; Huntsman, Scott S; Chung, Kian Fan KF; Vora, Hita H; Li, Xia X; Calhoun, William J WJ; Castro, Mario M; Sienra-Monge, Juan J JJ; del Rio-Navarro, Blanca B; Deichmann, Klaus A KA; Heinzmann, Andrea A; Wenzel, Sally E SE; Busse, William W WW; Gern, James E JE; Lemanske, Robert F RF; Beaty, Terri H TH; Bleecker, Eugene R ER; Raby, Benjamin A BA; Meyers, Deborah A DA; London, Stephanie J SJ; , ; Gilliland, Frank D FD; , ; Burchard, Esteban G EG; , ; Martinez, Fernando D FD; , ; Weiss, Scott T ST; , ; Williams, L Keoki LK; , ; Barnes, Kathleen C KC; , ; Ober, Carole C; Nicolae, Dan L DL
Publication Date: 2011-07-31

Variant appearance in text: rs12603332
PubMed Link: 21804549
Variant Present in the following documents:
  • NIHMS304749-supplement-1.pdf
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Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease.

American Journal Of Human Genetics
Verlaan, Dominique J DJ; Berlivet, Soizik S; Hunninghake, Gary M GM; Madore, Anne-Marie AM; Larivière, Mathieu M; Moussette, Sanny S; Grundberg, Elin E; Kwan, Tony T; Ouimet, Manon M; Ge, Bing B; Hoberman, Rose R; Swiatek, Marcin M; Dias, Joana J; Lam, Kevin C L KC; Koka, Vonda V; Harmsen, Eef E; Soto-Quiros, Manuel M; Avila, Lydiana L; Celedón, Juan C JC; Weiss, Scott T ST; Dewar, Ken K; Sinnett, Daniel D; Laprise, Catherine C; Raby, Benjamin A BA; Pastinen, Tomi T; Naumova, Anna K AK
Publication Date: 2009-09

Variant appearance in text: rs12603332
PubMed Link: 19732864
Variant Present in the following documents:
  • Main text
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ORMDL3 gene is associated with asthma in three ethnically diverse populations.

American Journal Of Respiratory And Critical Care Medicine
Galanter, Joshua J; Choudhry, Shweta S; Eng, Celeste C; Nazario, Sylvette S; Rodríguez-Santana, José R JR; Casal, Jesús J; Torres-Palacios, Alfonso A; Salas, Jorge J; Chapela, Rocio R; Watson, H Geoffrey HG; Meade, Kelley K; LeNoir, Michael M; Rodríguez-Cintrón, William W; Avila, Pedro C PC; Burchard, Esteban González EG
Publication Date: 2008-06-01

Variant appearance in text: rs12603332
PubMed Link: 18310477
Variant Present in the following documents:
  • Main text
View BVdb publication page