GSDMA c.704-192C>T

Variant ID: 17-38128648-C-T

NM_178171.4(GSDMA):c.704-192C>T

This variant was identified in 36 publications

View GRCh38 version.




Publications:


A case of midbrain germinoma: A literature review for radiographic and clinical features.

Neuro-Oncology Advances
Miyake, Yohei Y; Tateishi, Kensuke K; Oshima, Akito A; Hongo, Takeshi T; Satomi, Kaishi K; Ichimura, Koichi K; Kato, Ayumi A; Iwashita, Hiromichi H; Utsunomiya, Daisuke D; Yamamoto, Tetsuya T
Publication Date: 2023

Variant appearance in text: rs3859192
PubMed Link: 37215953
Variant Present in the following documents:
  • vdad043_suppl_supplementary_tables.xlsx, sheet 1
View BVdb publication page



Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs3859192
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs3859192
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: GSDMA: 704-192C>T; rs3859192
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs3859192
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Shared Genetic Architecture and Causal Relationship Between Asthma and Cardiovascular Diseases: A Large-Scale Cross-Trait Analysis.

Frontiers In Genetics
Zhou, Yi Y; Liang, Zhi-Sheng ZS; Jin, Yinzi Y; Ding, Jiayuan J; Huang, Tao T; Moore, Jason H JH; Zheng, Zhi-Jie ZJ; Huang, Jie J
Publication Date: 2021

Variant appearance in text: rs3859192
PubMed Link: 35126453
Variant Present in the following documents:
  • Main text
  • fgene-12-775591.pdf
View BVdb publication page



Heritability Enrichment of Immunoglobulin G N-Glycosylation in Specific Tissues.

Frontiers In Immunology
Li, Xingang X; Wang, Hao H; Zhu, Yahong Y; Cao, Weijie W; Song, Manshu M; Wang, Youxin Y; Hou, Haifeng H; Lang, Minglin M; Guo, Xiuhua X; Tan, Xuerui X; Han, Jingdong J JJ; Wang, Wei W
Publication Date: 2021

Variant appearance in text: rs3859192
PubMed Link: 34804021
Variant Present in the following documents:
  • Main text
  • fimmu-12-741705.pdf
View BVdb publication page



Pyroptosis, metabolism, and tumor immune microenvironment.

Clinical And Translational Medicine
Du, Tiantian T; Gao, Jie J; Li, Peilong P; Wang, Yunshan Y; Qi, Qiuchen Q; Liu, Xiaoyan X; Li, Juan J; Wang, Chuanxin C; Du, Lutao L
Publication Date: 2021-08

Variant appearance in text: rs3859192
PubMed Link: 34459122
Variant Present in the following documents:
  • Main text
  • CTM2-11-e492.pdf
View BVdb publication page



Influence of Second-Hand Smoke and Prenatal Tobacco Smoke Exposure on Biomarkers, Genetics and Physiological Processes in Children-An Overview in Research Insights of the Last Few Years.

International Journal Of Environmental Research And Public Health
Braun, Markus M; Klingelhöfer, Doris D; Oremek, Gerhard M GM; Quarcoo, David D; Groneberg, David A DA
Publication Date: 2020-05-05

Variant appearance in text: rs3859192
PubMed Link: 32380770
Variant Present in the following documents:
  • Main text
  • ijerph-17-03212.pdf
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Expression quantitative trait locus fine mapping of the 17q12-21 asthma locus in African American children: a genetic association and gene expression study.

The Lancet. Respiratory Medicine
Ober, Carole C; McKennan, Chris G CG; Magnaye, Kevin M KM; Altman, Matthew C MC; Washington, Charles C; Stanhope, Catherine C; Naughton, Katherine A KA; Rosasco, Mario G MG; Bacharier, Leonard B LB; Billheimer, Dean D; Gold, Diane R DR; Gress, Lisa L; Hartert, Tina T; Havstad, Suzanne S; Khurana Hershey, Gurjit K GK; Hallmark, Brian B; Hogarth, D Kyle DK; Jackson, Daniel J DJ; Johnson, Christine C CC; Kattan, Meyer M; Lemanske, Robert F RF; Lynch, Susan V SV; Mendonca, Eneida A EA; Miller, Rachel L RL; Naureckas, Edward T ET; O'Connor, George T GT; Seroogy, Christine M CM; Wegienka, Ganesa G; White, Steven R SR; Wood, Robert A RA; Wright, Anne L AL; Zoratti, Edward M EM; Martinez, Fernando D FD; Ownby, Dennis D; Nicolae, Dan L DL; Levin, Albert M AM; Gern, James E JE; ,
Publication Date: 2020-05

Variant appearance in text: rs3859192
PubMed Link: 32380068
Variant Present in the following documents:
  • Main text
View BVdb publication page



Macrophages in Systemic Sclerosis: Novel Insights and Therapeutic Implications.

Current Rheumatology Reports
Toledo, Diana M DM; Pioli, Patricia A PA
Publication Date: 2019-05-23

Variant appearance in text: rs3859192
PubMed Link: 31123840
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identifying Multi-Omics Causers and Causal Pathways for Complex Traits.

Frontiers In Genetics
Qin, Huaizhen H; Niu, Tianhua T; Zhao, Jinying J
Publication Date: 2019

Variant appearance in text: rs3859192
PubMed Link: 30847004
Variant Present in the following documents:
  • Main text
  • fgene-10-00110.pdf
View BVdb publication page



An association analysis to identify genetic variants linked to asthma and rhino-conjunctivitis in a cohort of Sicilian children.

Italian Journal Of Pediatrics
Sottile, Gianluca G; Ferrante, Giuliana G; Torregrossa, Marta M; Cibella, Fabio F; Cilluffo, Giovanna G; Fasola, Salvatore S; Alessandro, Riccardo R; Seidita, Gregorio G; Viegi, Giovanni G; La Grutta, Stefania S
Publication Date: 2019-01-15

Variant appearance in text: rs3859192
PubMed Link: 30646946
Variant Present in the following documents:
  • Main text
  • 13052_2019_Article_603.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: GSDMA: 704-192C>T; rs3859192
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Identification of nine novel loci related to hematological traits in a Japanese population.

Physiological Genomics
Yasukochi, Yoshiki Y; Sakuma, Jun J; Takeuchi, Ichiro I; Kato, Kimihiko K; Oguri, Mitsutoshi M; Fujimaki, Tetsuo T; Horibe, Hideki H; Yamada, Yoshiji Y
Publication Date: 2018-09-01

Variant appearance in text: rs3859192
PubMed Link: 29958078
Variant Present in the following documents:
  • Main text
View BVdb publication page



American Society of Pediatric Hematology/Oncology (ASPHO), David L. Lawrence Convention Center, Pittsburgh, PA, May 2-5, 2018.

Pediatric Blood & Cancer
Publication Date: 2018-06

Variant appearance in text: rs3859192
PubMed Link: 29603868
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analyses of genome wide association data, cytokines, and gene expression in African-Americans with benign ethnic neutropenia.

Plos One
Charles, Bashira A BA; Hsieh, Matthew M MM; Adeyemo, Adebowale A AA; Shriner, Daniel D; Ramos, Edward E; Chin, Kyung K; Srivastava, Kshitij K; Zakai, Neil A NA; Cushman, Mary M; McClure, Leslie A LA; Howard, Virginia V; Flegel, Willy A WA; Rotimi, Charles N CN; Rodgers, Griffin P GP
Publication Date: 2018

Variant appearance in text: rs3859192
PubMed Link: 29596498
Variant Present in the following documents:
  • Main text
View BVdb publication page



Changes in macrophage transcriptome associate with systemic sclerosis and mediate GSDMA contribution to disease risk.

Annals Of The Rheumatic Diseases
Moreno-Moral, Aida A; Bagnati, Marta M; Koturan, Surya S; Ko, Jeong-Hun JH; Fonseca, Carmen C; Harmston, Nathan N; Game, Laurence L; Martin, Javier J; Ong, Voon V; Abraham, David J DJ; Denton, Christopher P CP; Behmoaras, Jacques J; Petretto, Enrico E
Publication Date: 2018-04

Variant appearance in text: rs3859192
PubMed Link: 29348297
Variant Present in the following documents:
  • Main text
  • annrheumdis-2017-212454.pdf
View BVdb publication page



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: rs3859192
PubMed Link: 29307657
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.

Nature Genetics
Demenais, Florence F; Margaritte-Jeannin, Patricia P; Barnes, Kathleen C KC; Cookson, William O C WOC; Altmüller, Janine J; Ang, Wei W; Barr, R Graham RG; Beaty, Terri H TH; Becker, Allan B AB; Beilby, John J; Bisgaard, Hans H; Bjornsdottir, Unnur Steina US; Bleecker, Eugene E; Bønnelykke, Klaus K; Boomsma, Dorret I DI; Bouzigon, Emmanuelle E; Brightling, Christopher E CE; Brossard, Myriam M; Brusselle, Guy G GG; Burchard, Esteban E; Burkart, Kristin M KM; Bush, Andrew A; Chan-Yeung, Moira M; Chung, Kian Fan KF; Couto Alves, Alexessander A; Curtin, John A JA; Custovic, Adnan A; Daley, Denise D; de Jongste, Johan C JC; Del-Rio-Navarro, Blanca E BE; Donohue, Kathleen M KM; Duijts, Liesbeth L; Eng, Celeste C; Eriksson, Johan G JG; Farrall, Martin M; Fedorova, Yuliya Y; Feenstra, Bjarke B; Ferreira, Manuel A MA; , ; Freidin, Maxim B MB; Gajdos, Zofia Z; Gauderman, Jim J; Gehring, Ulrike U; Geller, Frank F; Genuneit, Jon J; Gharib, Sina A SA; Gilliland, Frank F; Granell, Raquel R; Graves, Penelope E PE; Gudbjartsson, Daniel F DF; Haahtela, Tari T; Heckbert, Susan R SR; Heederik, Dick D; Heinrich, Joachim J; Heliövaara, Markku M; Henderson, John J; Himes, Blanca E BE; Hirose, Hiroshi H; Hirschhorn, Joel N JN; Hofman, Albert A; Holt, Patrick P; Hottenga, Jouke J; Hudson, Thomas J TJ; Hui, Jennie J; Imboden, Medea M; Ivanov, Vladimir V; Jaddoe, Vincent W V VWV; James, Alan A; Janson, Christer C; Jarvelin, Marjo-Riitta MR; Jarvis, Deborah D; Jones, Graham G; Jonsdottir, Ingileif I; Jousilahti, Pekka P; Kabesch, Michael M; Kähönen, Mika M; Kantor, David B DB; Karunas, Alexandra S AS; Khusnutdinova, Elza E; Koppelman, Gerard H GH; Kozyrskyj, Anita L AL; Kreiner, Eskil E; Kubo, Michiaki M; Kumar, Rajesh R; Kumar, Ashish A; Kuokkanen, Mikko M; Lahousse, Lies L; Laitinen, Tarja T; Laprise, Catherine C; Lathrop, Mark M; Lau, Susanne S; Lee, Young-Ae YA; Lehtimäki, Terho T; Letort, Sébastien S; Levin, Albert M AM; Li, Guo G; Liang, Liming L; Loehr, Laura R LR; London, Stephanie J SJ; Loth, Daan W DW; Manichaikul, Ani A; Marenholz, Ingo I; Martinez, Fernando J FJ; Matheson, Melanie C MC; Mathias, Rasika A RA; Matsumoto, Kenji K; Mbarek, Hamdi H; McArdle, Wendy L WL; Melbye, Mads M; Melén, Erik E; Meyers, Deborah D; Michel, Sven S; Mohamdi, Hamida H; Musk, Arthur W AW; Myers, Rachel A RA; Nieuwenhuis, Maartje A E MAE; Noguchi, Emiko E; O'Connor, George T GT; Ogorodova, Ludmila M LM; Palmer, Cameron D CD; Palotie, Aarno A; Park, Julie E JE; Pennell, Craig E CE; Pershagen, Göran G; Polonikov, Alexey A; Postma, Dirkje S DS; Probst-Hensch, Nicole N; Puzyrev, Valery P VP; Raby, Benjamin A BA; Raitakari, Olli T OT; Ramasamy, Adaikalavan A; Rich, Stephen S SS; Robertson, Colin F CF; Romieu, Isabelle I; Salam, Muhammad T MT; Salomaa, Veikko V; Schlünssen, Vivi V; Scott, Robert R; Selivanova, Polina A PA; Sigsgaard, Torben T; Simpson, Angela A; Siroux, Valérie V; Smith, Lewis J LJ; Solodilova, Maria M; Standl, Marie M; Stefansson, Kari K; Strachan, David P DP; Stricker, Bruno H BH; Takahashi, Atsushi A; Thompson, Philip J PJ; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; Tiesler, Carla M T CMT; Torgerson, Dara G DG; Tsunoda, Tatsuhiko T; Uitterlinden, André G AG; van der Valk, Ralf J P RJP; Vaysse, Amaury A; Vedantam, Sailaja S; von Berg, Andrea A; von Mutius, Erika E; Vonk, Judith M JM; Waage, Johannes J; Wareham, Nick J NJ; Weiss, Scott T ST; White, Wendy B WB; Wickman, Magnus M; Widén, Elisabeth E; Willemsen, Gonneke G; Williams, L Keoki LK; Wouters, Inge M IM; Yang, James J JJ; Zhao, Jing Hua JH; Moffatt, Miriam F MF; Ober, Carole C; Nicolae, Dan L DL
Publication Date: 2018-01

Variant appearance in text: rs3859192
PubMed Link: 29273806
Variant Present in the following documents:
  • NIHMS919076-supplement-8.pdf
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: rs3859192
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



A novel association between relaxin receptor polymorphism and hematopoietic stem cell yield after mobilization.

Plos One
Shin, Saeam S; Kim, Juwon J; Kim-Wanner, Soo-Zin SZ; Bönig, Halvard H; Cho, Sung Ran SR; Kim, Sinyoung S; Choi, Jong Rak JR; Lee, Kyung-A KA
Publication Date: 2017

Variant appearance in text: rs3859192
PubMed Link: 28666004
Variant Present in the following documents:
  • Main text
  • pone.0179986.pdf
View BVdb publication page



American Society of Pediatric Hematology/Oncology (ASPHO) Hyatt Regency Minneapolis Minneapolis, MN May 11-14, 2016.

Pediatric Blood & Cancer
Publication Date: 2016-06

Variant appearance in text: rs3859192
PubMed Link: 27077670
Variant Present in the following documents:
  • Main text
  • PBC-63-S7.pdf
View BVdb publication page



Total and Differential Leukocyte Counts in Relation to Incidence of Diabetes Mellitus: A Prospective Population-Based Cohort Study.

Plos One
Borné, Yan Y; Smith, J Gustav JG; Nilsson, Peter M PM; Melander, Olle O; Hedblad, Bo B; Engström, Gunnar G
Publication Date: 2016

Variant appearance in text: rs3859192
PubMed Link: 26891449
Variant Present in the following documents:
  • Main text
  • pone.0148963.pdf
View BVdb publication page



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: rs3859192
PubMed Link: 25256354
Variant Present in the following documents:
  • Main text
  • ddu479.pdf
View BVdb publication page



eMERGEing progress in genomics-the first seven years.

Frontiers In Genetics
Crawford, Dana C DC; Crosslin, David R DR; Tromp, Gerard G; Kullo, Iftikhar J IJ; Kuivaniemi, Helena H; Hayes, M Geoffrey MG; Denny, Joshua C JC; Bush, William S WS; Haines, Jonathan L JL; Roden, Dan M DM; McCarty, Catherine A CA; Jarvik, Gail P GP; Ritchie, Marylyn D MD
Publication Date: 2014

Variant appearance in text: rs3859192
PubMed Link: 24987407
Variant Present in the following documents:
  • Main text
View BVdb publication page



Synthesis of 53 tissue and cell line expression QTL datasets reveals master eQTLs.

Bmc Genomics
Zhang, Xiaoling X; Gierman, Hinco J HJ; Levy, Daniel D; Plump, Andrew A; Dobrin, Radu R; Goring, Harald H H HH; Curran, Joanne E JE; Johnson, Matthew P MP; Blangero, John J; Kim, Stuart K SK; O'Donnell, Christopher J CJ; Emilsson, Valur V; Johnson, Andrew D AD
Publication Date: 2014-06-27

Variant appearance in text: rs3859192
PubMed Link: 24973796
Variant Present in the following documents:
  • 12864_2013_6258_MOESM17_ESM.xlsx, sheet 1
View BVdb publication page



Heritability and genomics of gene expression in peripheral blood.

Nature Genetics
Wright, Fred A FA; Sullivan, Patrick F PF; Brooks, Andrew I AI; Zou, Fei F; Sun, Wei W; Xia, Kai K; Madar, Vered V; Jansen, Rick R; Chung, Wonil W; Zhou, Yi-Hui YH; Abdellaoui, Abdel A; Batista, Sandra S; Butler, Casey C; Chen, Guanhua G; Chen, Ting-Huei TH; D'Ambrosio, David D; Gallins, Paul P; Ha, Min Jin MJ; Hottenga, Jouke Jan JJ; Huang, Shunping S; Kattenberg, Mathijs M; Kochar, Jaspreet J; Middeldorp, Christel M CM; Qu, Ani A; Shabalin, Andrey A; Tischfield, Jay J; Todd, Laura L; Tzeng, Jung-Ying JY; van Grootheest, Gerard G; Vink, Jacqueline M JM; Wang, Qi Q; Wang, Wei W; Wang, Weibo W; Willemsen, Gonneke G; Smit, Johannes H JH; de Geus, Eco J EJ; Yin, Zhaoyu Z; Penninx, Brenda W J H BW; Boomsma, Dorret I DI
Publication Date: 2014-05

Variant appearance in text: rs3859192
PubMed Link: 24728292
Variant Present in the following documents:
  • NIHMS576016-supplement-1.pdf
View BVdb publication page



Innate immune activity conditions the effect of regulatory variants upon monocyte gene expression.

Science (New York, N.Y.)
Fairfax, Benjamin P BP; Humburg, Peter P; Makino, Seiko S; Naranbhai, Vivek V; Wong, Daniel D; Lau, Evelyn E; Jostins, Luke L; Plant, Katharine K; Andrews, Robert R; McGee, Chris C; Knight, Julian C JC
Publication Date: 2014-03-07

Variant appearance in text: rs3859192
PubMed Link: 24604202
Variant Present in the following documents:
  • Main text
View BVdb publication page



Using eQTL weights to improve power for genome-wide association studies: a genetic study of childhood asthma.

Frontiers In Genetics
Li, Lin L; Kabesch, Michael M; Bouzigon, Emmanuelle E; Demenais, Florence F; Farrall, Martin M; Moffatt, Miriam F MF; Lin, Xihong X; Liang, Liming L
Publication Date: 2013

Variant appearance in text: rs3859192
PubMed Link: 23755072
Variant Present in the following documents:
  • Main text
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: rs3859192
PubMed Link: 23209423
Variant Present in the following documents:
  • Main text
  • pgen.1003029.pdf
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Examination of the relationship between variation at 17q21 and childhood wheeze phenotypes.

The Journal Of Allergy And Clinical Immunology
Granell, Raquel R; Henderson, A John AJ; Timpson, Nicholas N; St Pourcain, Beate B; Kemp, John P JP; Ring, Susan M SM; Ho, Karen K; Montgomery, Stephen B SB; Dermitzakis, Emmanouil T ET; Evans, David M DM; Sterne, Jonathan A C JA
Publication Date: 2013-03

Variant appearance in text: rs3859192
PubMed Link: 23154084
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network.

Human Genetics
Crosslin, David R DR; McDavid, Andrew A; Weston, Noah N; Nelson, Sarah C SC; Zheng, Xiuwen X; Hart, Eugene E; de Andrade, Mariza M; Kullo, Iftikhar J IJ; McCarty, Catherine A CA; Doheny, Kimberly F KF; Pugh, Elizabeth E; Kho, Abel A; Hayes, M Geoffrey MG; Pretel, Stephanie S; Saip, Alexander A; Ritchie, Marylyn D MD; Crawford, Dana C DC; Crane, Paul K PK; Newton, Katherine K; Li, Rongling R; Mirel, Daniel B DB; Crenshaw, Andrew A; Larson, Eric B EB; Carlson, Chris S CS; Jarvik, Gail P GP; ,
Publication Date: 2012-04

Variant appearance in text: rs3859192
PubMed Link: 22037903
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene.

American Journal Of Human Genetics
Himes, Blanca E BE; Hunninghake, Gary M GM; Baurley, James W JW; Rafaels, Nicholas M NM; Sleiman, Patrick P; Strachan, David P DP; Wilk, Jemma B JB; Willis-Owen, Saffron A G SA; Klanderman, Barbara B; Lasky-Su, Jessica J; Lazarus, Ross R; Murphy, Amy J AJ; Soto-Quiros, Manuel E ME; Avila, Lydiana L; Beaty, Terri T; Mathias, Rasika A RA; Ruczinski, Ingo I; Barnes, Kathleen C KC; Celedón, Juan C JC; Cookson, William O C WO; Gauderman, W James WJ; Gilliland, Frank D FD; Hakonarson, Hakon H; Lange, Christoph C; Moffatt, Miriam F MF; O'Connor, George T GT; Raby, Benjamin A BA; Silverman, Edwin K EK; Weiss, Scott T ST
Publication Date: 2009-05

Variant appearance in text: rs3859192
PubMed Link: 19426955
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: rs3859192
PubMed Link: 18310477
Variant Present in the following documents:
  • Main text
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Recent advances in asthma genetics.

Respiratory Research
Zhang, Jian J; Paré, Peter D PD; Sandford, Andrew J AJ
Publication Date: 2008-01-15

Variant appearance in text: rs3859192
PubMed Link: 18197984
Variant Present in the following documents:
View BVdb publication page