CHRNB4 c.*76T>A

Variant ID: 15-78917399-A-T

NM_000750.3(CHRNB4):c.*76T>A

This variant was identified in 76 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs1948
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
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: rs1948
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



The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.

Bmc Medical Genomics
Alsheikh, Ammar J AJ; Wollenhaupt, Sabrina S; King, Emily A EA; Reeb, Jonas J; Ghosh, Sujana S; Stolzenburg, Lindsay R LR; Tamim, Saleh S; Lazar, Jozef J; Davis, J Wade JW; Jacob, Howard J HJ
Publication Date: 2022-04-01

Variant appearance in text: rs1948
PubMed Link: 35365203
Variant Present in the following documents:
  • 12920_2022_Article_1216.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: rs1948
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs1948
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: rs1948
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



A Variant in the Nicotinic Acetylcholine Receptor Alpha 3 Subunit Gene Is Associated With Hypertension Risks in Hypogonadic Patients.

Frontiers In Genetics
Wu, Tao T; Wang, Yujia Y; Shi, Wei W; Zhang, Bi-Qi BQ; Raelson, John J; Yao, Yu-Mei YM; Wu, Huan-Dong HD; Xu, Zao-Xian ZX; Marois-Blanchet, Francois-Christophe FC; Ledoux, Jonathan J; Blunck, Rikard R; Sheng, Jian-Zhong JZ; Hu, Shen-Jiang SJ; Luo, Hongyu H; Wu, Jiangping J
Publication Date: 2020

Variant appearance in text: rs1948
PubMed Link: 33329690
Variant Present in the following documents:
  • Main text
  • fgene-11-539862.pdf
View BVdb publication page



Genetics of Smoking Behaviors in American Indians.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Henderson, Jeffrey A JA; Buchwald, Dedra S DS; Howard, Barbara V BV; Henderson, Patricia Nez PN; Li, Yafang Y; Tyndale, Rachel F RF; Amos, Christopher I CI; Gorlova, Olga Y OY; ,
Publication Date: 2020-11

Variant appearance in text: rs1948
PubMed Link: 32855268
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of susceptibility variants to benign childhood epilepsy with centro-temporal spikes (BECTS) in Chinese Han population.

Ebiomedicine
Shi, Xiu-Yu XY; Wang, Geng G; Li, Ting T; Li, Zhixiu Z; Leo, Paul P; Liu, Zhisheng Z; Wu, Gefei G; Zhu, Hongmin H; Zhang, Yuqin Y; Li, Dong D; Gao, Li L; Yang, Liu L; Wang, Wei W; Liao, Jianxiang J; Wang, Jiwen J; Zhou, Shuizhen S; Wang, Hua H; Li, Xiaojing X; Gao, Jingyun J; Zhang, Li L; Shu, Xiaomei X; Li, Dan D; Li, Yan Y; Chen, Chunhong C; Zhang, Xiuju X; Partida, Gabriel Cuellar GC; Lundberg, Mischa M; Reutens, David D; Bartlett, Perry P; Brown, Matthew A MA; Zou, Li-Ping LP; Xu, Huji H
Publication Date: 2020-07

Variant appearance in text: rs1948
PubMed Link: 32580138
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: rs1948
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs1948
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs1948
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Neural circuits and nicotinic acetylcholine receptors mediate the cholinergic regulation of midbrain dopaminergic neurons and nicotine dependence.

Acta Pharmacologica Sinica
Xiao, Cheng C; Zhou, Chun-Yi CY; Jiang, Jin-Hong JH; Yin, Cui C
Publication Date: 2020-01

Variant appearance in text: rs1948
PubMed Link: 31554960
Variant Present in the following documents:
  • Main text
  • 41401_2019_Article_299.pdf
View BVdb publication page



Bivariate logistic Bayesian LASSO for detecting rare haplotype association with two correlated phenotypes.

Genetic Epidemiology
Yuan, Xiaochen X; Biswas, Swati S
Publication Date: 2019-12

Variant appearance in text: rs1948
PubMed Link: 31544985
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparison of haplotype-based tests for detecting gene-environment interactions with rare variants.

Briefings In Bioinformatics
Papachristou, Charalampos C; Biswas, Swati S
Publication Date: 2020-05-21

Variant appearance in text: rs1948
PubMed Link: 31329820
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mining and validating the expression pattern and prognostic value of acetylcholine receptors in non-small cell lung cancer.

Medicine
Ma, Guoyuan G; Ji, Delin D; Qu, Xiao X; Liu, Shaorui S; Yang, Xudong X; Wang, Guanghui G; Liu, Qi Q; Du, Jiajun J
Publication Date: 2019-05

Variant appearance in text: rs1948
PubMed Link: 31096457
Variant Present in the following documents:
  • Main text
  • medi-98-e15555.pdf
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs1948
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Combined genetic influence of the nicotinic receptor gene cluster CHRNA5/A3/B4 on nicotine dependence.

Bmc Genomics
Lee, Sung-Ha SH; Ahn, Woo-Young WY; Seweryn, Michał M; Sadee, Wolfgang W
Publication Date: 2018-11-20

Variant appearance in text: rs1948
PubMed Link: 30453884
Variant Present in the following documents:
  • Main text
  • 12864_2018_Article_5219.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: rs1948
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.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: rs1948
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population.

Translational Psychiatry
Liu, Qiang Q; Han, Haijun H; Wang, Maiqiu M; Yao, Yinghao Y; Wen, Li L; Jiang, Keran K; Ma, Yunlong Y; Fan, Rongli R; Chen, Jiali J; Su, Kunkai K; Yang, Zhongli Z; Cui, Wenyan W; Yuan, Wenji W; Jiang, Xianzhong X; Li, Jingjing J; Payne, Thomas J TJ; Wang, Jundong J; Li, Ming D MD
Publication Date: 2018-04-18

Variant appearance in text: rs1948
PubMed Link: 29666375
Variant Present in the following documents:
  • Main text
  • 41398_2018_Article_130.pdf
View BVdb publication page



Study on polymorphisms in CHRNA5/CHRNA3/CHRNB4 gene cluster and the associated with the risk of non-small cell lung cancer.

Oncotarget
Sun, Yiting Y; Li, Jiaye J; Zheng, Chang C; Zhou, Baosen B
Publication Date: 2018-01-05

Variant appearance in text: rs1948
PubMed Link: 29416783
Variant Present in the following documents:
  • Main text
  • oncotarget-09-2435.pdf
View BVdb publication page



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: rs1948
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Neural and psychological characteristics of college students with alcoholic parents differ depending on current alcohol use.

Progress In Neuro-Psychopharmacology & Biological Psychiatry
Brown-Rice, Kathleen A KA; Scholl, Jamie L JL; Fercho, Kelene A KA; Pearson, Kami K; Kallsen, Noah A NA; Davies, Gareth E GE; Ehli, Erik A EA; Olson, Seth S; Schweinle, Amy A; Baugh, Lee A LA; Forster, Gina L GL
Publication Date: 2018-02-02

Variant appearance in text: rs1948
PubMed Link: 28939188
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: rs1948
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Novel Mutations of the CHRNA3 Gene in Non-Small Cell Lung Cancer in an Iranian Population

Asian Pacific Journal Of Cancer Prevention : Apjcp
Mehrabi, Nahid N; Moshtaghioun, Seyed Mohammad SM; Neamatzadeh, Hossein H
Publication Date: 2017-01-01

Variant appearance in text: rs1948
PubMed Link: 28240528
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole exome sequencing of independent lung adenocarcinoma, lung squamous cell carcinoma, and malignant peritoneal mesothelioma: A case report.

Medicine
Vanni, Irene I; Coco, Simona S; Bonfiglio, Silvia S; Cittaro, Davide D; Genova, Carlo C; Biello, Federica F; Mora, Marco M; Rossella, Valeria V; Dal Bello, Maria Giovanna MG; Truini, Anna A; Banelli, Barbara B; Lazarevic, Dejan D; Alama, Angela A; Rijavec, Erika E; Barletta, Giulia G; Grossi, Francesco F
Publication Date: 2016-11

Variant appearance in text: rs1948
PubMed Link: 27902597
Variant Present in the following documents:
  • Main text
  • md-95-e5447.pdf
View BVdb publication page



The CHRNA5/CHRNA3/CHRNB4 Nicotinic Receptor Regulome: Genomic Architecture, Regulatory Variants, and Clinical Associations.

Human Mutation
Barrie, Elizabeth S ES; Hartmann, Katherine K; Lee, Sung-Ha SH; Frater, John T JT; Seweryn, Michal M; Wang, Danxin D; Sadee, Wolfgang W
Publication Date: 2017-01

Variant appearance in text: rs1948
PubMed Link: 27758088
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detecting rare and common haplotype-environment interaction under uncertainty of gene-environment independence assumption.

Biometrics
Zhang, Yuan Y; Lin, Shili S; Biswas, Swati S
Publication Date: 2017-03

Variant appearance in text: rs1948
PubMed Link: 27478935
Variant Present in the following documents:
  • Main text
View BVdb publication page



Converging findings from linkage and association analyses on susceptibility genes for smoking and other addictions.

Molecular Psychiatry
Yang, J J; Li, M D MD
Publication Date: 2016-08

Variant appearance in text: rs1948
PubMed Link: 27166759
Variant Present in the following documents:
  • Main text
  • nihms-767542.pdf
View BVdb publication page



Narrative review of genes, environment, and cigarettes.

Annals Of Medicine
Do, Elizabeth E; Maes, Hermine H
Publication Date: 2016-08

Variant appearance in text: rs1948
PubMed Link: 27124093
Variant Present in the following documents:
  • Main text
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs1948
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



Nicotinic acetylcholine receptors: upregulation, age-related effects and associations with drug use.

Genes, Brain, And Behavior
Melroy-Greif, W E WE; Stitzel, J A JA; Ehringer, M A MA
Publication Date: 2016-01

Variant appearance in text: rs1948
PubMed Link: 26351737
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nicotinic receptor contributions to smoking: insights from human studies and animal models.

Current Addiction Reports
Brunzell, Darlene H DH; Stafford, Alexandra M AM; Dixon, Claire I CI
Publication Date: 2015-03

Variant appearance in text: rs1948
PubMed Link: 26301171
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene network analysis shows immune-signaling and ERK1/2 as novel genetic markers for multiple addiction phenotypes: alcohol, smoking and opioid addiction.

Bmc Systems Biology
Reyes-Gibby, Cielito C CC; Yuan, Christine C; Wang, Jian J; Yeung, Sai-Ching J SC; Shete, Sanjay S
Publication Date: 2015-06-05

Variant appearance in text: rs1948
PubMed Link: 26044620
Variant Present in the following documents:
  • Main text
  • 12918_2015_Article_167.pdf
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs1948
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



An Adolescent Substance Prevention Model Blocks the Effect of CHRNA5 Genotype on Smoking During High School.

Nicotine & Tobacco Research : Official Journal Of The Society For Research On Nicotine And Tobacco
Vandenbergh, David J DJ; Schlomer, Gabriel L GL; Cleveland, H Harrington HH; Schink, Alisa E AE; Hair, Kerry L KL; Feinberg, Mark E ME; Neiderhiser, Jenae M JM; Greenberg, Mark T MT; Spoth, Richard L RL; Redmond, Cleve C
Publication Date: 2016-02

Variant appearance in text: rs1948
PubMed Link: 25941207
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: rs1948
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Role of nicotine dependence on the relationship between variants in the nicotinic receptor genes and risk of lung adenocarcinoma.

Plos One
Tseng, Tung-Sung TS; Park, Jong Y JY; Zabaleta, Jovanny J; Moody-Thomas, Sarah S; Sothern, Melinda S MS; Chen, Ted T; Evans, David E DE; Lin, Hui-Yi HY
Publication Date: 2014

Variant appearance in text: rs1948
PubMed Link: 25233467
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Association of CHRNB3 and CHRNA6 Gene Polymorphisms with Nicotine Dependence Syndrome Scale in Korean Population.

Psychiatry Investigation
Won, Wang-Youn WY; Park, ByungLae B; Choi, Sam-Wook SW; Kim, LyoungHyo L; Kwon, Min M; Kim, Jae-Hwa JH; Lee, Chang-Uk CU; Shin, Hyoung Doo HD; Kim, Dai-Jin DJ
Publication Date: 2014-07

Variant appearance in text: rs1948
PubMed Link: 25110504
Variant Present in the following documents:
  • Main text
View BVdb publication page



Joint association of nicotinic acetylcholine receptor variants with abdominal obesity in American Indians: the Strong Heart Family Study.

Plos One
Zhu, Yun Y; Yang, Jingyun J; Yeh, Fawn F; Cole, Shelley A SA; Haack, Karin K; Lee, Elisa T ET; Howard, Barbara V BV; Zhao, Jinying J
Publication Date: 2014

Variant appearance in text: rs1948
PubMed Link: 25036316
Variant Present in the following documents:
  • Main text
  • pone.0102220.pdf
View BVdb publication page



Genetic variants in nicotinic acetylcholine receptor genes jointly contribute to kidney function in American Indians: the Strong Heart Family Study.

Journal Of Hypertension
Zhu, Yun Y; Yang, Jingyun J; Li, Shengxu S; Cole, Shelley A SA; Haack, Karin K; Umans, Jason G JG; Franceschini, Nora N; Howard, Barbara V BV; Lee, Elisa T ET; Zhao, Jinying J
Publication Date: 2014-05

Variant appearance in text: rs1948
PubMed Link: 24569419
Variant Present in the following documents:
  • Main text
View BVdb publication page



Finding genomic function for genetic associations in nicotine addiction research: the ENCODE project's role in future pharmacogenomic analysis.

Pharmacology, Biochemistry, And Behavior
Vandenbergh, David J DJ; Schlomer, Gabriel L GL
Publication Date: 2014-08

Variant appearance in text: rs1948
PubMed Link: 24486638
Variant Present in the following documents:
  • Main text
View BVdb publication page



Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking.

Genetic Epidemiology
Stephens, Sarah H SH; Hartz, Sarah M SM; Hoft, Nicole R NR; Saccone, Nancy L NL; Corley, Robin C RC; Hewitt, John K JK; Hopfer, Christian J CJ; Breslau, Naomi N; Coon, Hilary H; Chen, Xiangning X; Ducci, Francesca F; Dueker, Nicole N; Franceschini, Nora N; Frank, Josef J; Han, Younghun Y; Hansel, Nadia N NN; Jiang, Chenhui C; Korhonen, Tellervo T; Lind, Penelope A PA; Liu, Jason J; Lyytikäinen, Leo-Pekka LP; Michel, Martha M; Shaffer, John R JR; Short, Susan E SE; Sun, Juzhong J; Teumer, Alexander A; Thompson, John R JR; Vogelzangs, Nicole N; Vink, Jacqueline M JM; Wenzlaff, Angela A; Wheeler, William W; Yang, Bao-Zhu BZ; Aggen, Steven H SH; Balmforth, Anthony J AJ; Baumeister, Sebastian E SE; Beaty, Terri H TH; Benjamin, Daniel J DJ; Bergen, Andrew W AW; Broms, Ulla U; Cesarini, David D; Chatterjee, Nilanjan N; Chen, Jingchun J; Cheng, Yu-Ching YC; Cichon, Sven S; Couper, David D; Cucca, Francesco F; Dick, Danielle D; Foroud, Tatiana T; Furberg, Helena H; Giegling, Ina I; Gillespie, Nathan A NA; Gu, Fangyi F; Hall, Alistair S AS; Hällfors, Jenni J; Han, Shizhong S; Hartmann, Annette M AM; Heikkilä, Kauko K; Hickie, Ian B IB; Hottenga, Jouke Jan JJ; Jousilahti, Pekka P; Kaakinen, Marika M; Kähönen, Mika M; Koellinger, Philipp D PD; Kittner, Stephen S; Konte, Bettina B; Landi, Maria-Teresa MT; Laatikainen, Tiina T; Leppert, Mark M; Levy, Steven M SM; Mathias, Rasika A RA; McNeil, Daniel W DW; Medland, Sarah E SE; Montgomery, Grant W GW; Murray, Tanda T; Nauck, Matthias M; North, Kari E KE; Paré, Peter D PD; Pergadia, Michele M; Ruczinski, Ingo I; Salomaa, Veikko V; Viikari, Jorma J; Willemsen, Gonneke G; Barnes, Kathleen C KC; Boerwinkle, Eric E; Boomsma, Dorret I DI; Caporaso, Neil N; Edenberg, Howard J HJ; Francks, Clyde C; Gelernter, Joel J; Grabe, Hans Jörgen HJ; Hops, Hyman H; Jarvelin, Marjo-Riitta MR; Johannesson, Magnus M; Kendler, Kenneth S KS; Lehtimäki, Terho T; Magnusson, Patrik K E PK; Marazita, Mary L ML; Marchini, Jonathan J; Mitchell, Braxton D BD; Nöthen, Markus M MM; Penninx, Brenda W BW; Raitakari, Olli O; Rietschel, Marcella M; Rujescu, Dan D; Samani, Nilesh J NJ; Schwartz, Ann G AG; Shete, Sanjay S; Spitz, Margaret M; Swan, Gary E GE; Völzke, Henry H; Veijola, Juha J; Wei, Qingyi Q; Amos, Chris C; Cannon, Dale S DS; Grucza, Richard R; Hatsukami, Dorothy D; Heath, Andrew A; Johnson, Eric O EO; Kaprio, Jaakko J; Madden, Pamela P; Martin, Nicholas G NG; Stevens, Victoria L VL; Weiss, Robert B RB; Kraft, Peter P; Bierut, Laura J LJ; Ehringer, Marissa A MA
Publication Date: 2013-12

Variant appearance in text: rs1948
PubMed Link: 24186853
Variant Present in the following documents:
  • Main text
View BVdb publication page



Scrutiny of the CHRNA5-CHRNA3-CHRNB4 smoking behavior locus reveals a novel association with alcohol use in a Finnish population based study.

International Journal Of Molecular Epidemiology And Genetics
Hällfors, Jenni J; Loukola, Anu A; Pitkäniemi, Janne J; Broms, Ulla U; Männistö, Satu S; Salomaa, Veikko V; Heliövaara, Markku M; Lehtimäki, Terho T; Raitakari, Olli O; Madden, Pamela Af PA; Heath, Andrew C AC; Montgomery, Grant W GW; Martin, Nicholas G NG; Korhonen, Tellervo T; Kaprio, Jaakko J
Publication Date: 2013

Variant appearance in text: rs1948
PubMed Link: 23875064
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional characterization of SNPs in CHRNA3/B4 intergenic region associated with drug behaviors.

Brain Research
Flora, Amber V AV; Zambrano, Cristian A CA; Gallego, Xavier X; Miyamoto, Jill H JH; Johnson, Krista A KA; Cowan, Katelyn A KA; Stitzel, Jerry A JA; Ehringer, Marissa A MA
Publication Date: 2013-09-05

Variant appearance in text: rs1948
PubMed Link: 23872218
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative CHRNB4 3'-UTRs mediate the allelic effects of SNP rs1948 on gene expression.

Plos One
Gallego, Xavier X; Cox, Ryan J RJ; Laughlin, James R JR; Stitzel, Jerry A JA; Ehringer, Marissa A MA
Publication Date: 2013

Variant appearance in text: rs1948
PubMed Link: 23691088
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic risk for nicotine dependence in the cholinergic system and activation of the brain reward system in healthy adolescents.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology
Nees, F F; Witt, S H SH; Lourdusamy, A A; Vollstädt-Klein, S S; Steiner, S S; Poustka, L L; Banaschewski, T T; Barker, G J GJ; Büchel, C C; Conrod, P J PJ; Frank, J J; Gallinat, J J; Garavan, H H; Heinz, A A; Ittermann, B B; Loth, E E; Mann, K K; Artiges, E E; Paus, T T; Pausova, Z Z; Smolka, M N MN; Struve, M M; Schumann, G G; Rietschel, M M; Flor, H H; ,
Publication Date: 2013-10

Variant appearance in text: rs1948
PubMed Link: 23689675
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide haplotype analysis of cis expression quantitative trait loci in monocytes.

Plos Genetics
Garnier, Sophie S; Truong, Vinh V; Brocheton, Jessy J; Zeller, Tanja T; Rovital, Maxime M; Wild, Philipp S PS; Ziegler, Andreas A; , ; Munzel, Thomas T; Tiret, Laurence L; Blankenberg, Stefan S; Deloukas, Panos P; Erdmann, Jeannette J; Hengstenberg, Christian C; Samani, Nilesh J NJ; Schunkert, Heribert H; Ouwehand, Willem H WH; Goodall, Alison H AH; Cambien, François F; Trégouët, David-Alexandre DA
Publication Date: 2013

Variant appearance in text: rs1948
PubMed Link: 23382694
Variant Present in the following documents:
  • Main text
View BVdb publication page



Joint associations of 61 genetic variants in the nicotinic acetylcholine receptor genes with subclinical atherosclerosis in American Indians: a gene-family analysis.

Circulation. Cardiovascular Genetics
Yang, Jingyun J; Zhu, Yun Y; Lee, Elisa T ET; Zhang, Ying Y; Cole, Shelley A SA; Haack, Karin K; Best, Lyle G LG; Devereux, Richard B RB; Roman, Mary J MJ; Howard, Barbara V BV; Zhao, Jinying J
Publication Date: 2013-02

Variant appearance in text: rs1948
PubMed Link: 23264444
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular mechanisms underlying behaviors related to nicotine addiction.

Cold Spring Harbor Perspectives In Medicine
Picciotto, Marina R MR; Kenny, Paul J PJ
Publication Date: 2013-01-01

Variant appearance in text: rs1948
PubMed Link: 23143843
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations between variation in CHRNA5-CHRNA3-CHRNB4, body mass index and blood pressure in the Northern Finland Birth Cohort 1966.

Plos One
Kaakinen, Marika M; Ducci, Francesca F; Sillanpää, Mikko J MJ; Läärä, Esa E; Järvelin, Marjo-Riitta MR
Publication Date: 2012

Variant appearance in text: rs1948
PubMed Link: 23029550
Variant Present in the following documents:
  • Main text
  • pone.0046557.pdf
View BVdb publication page



Development of novel pharmacotherapeutics for tobacco dependence: progress and future directions.

Nicotine & Tobacco Research : Official Journal Of The Society For Research On Nicotine And Tobacco
Harmey, Dympna D; Griffin, Patrick R PR; Kenny, Paul J PJ
Publication Date: 2012-11

Variant appearance in text: rs1948
PubMed Link: 23024249
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epigenetic screen identifies genotype-specific promoter DNA methylation and oncogenic potential of CHRNB4.

Oncogene
Scherf, D B DB; Sarkisyan, N N; Jacobsson, H H; Claus, R R; Bermejo, J L JL; Peil, B B; Gu, L L; Muley, T T; Meister, M M; Dienemann, H H; Plass, C C; Risch, A A
Publication Date: 2013-07-11

Variant appearance in text: rs1948
PubMed Link: 22945651
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants located upstream of CHRNB4 on chromosome 15q25.1 are associated with age at onset of daily smoking and habitual smoking.

Plos One
Kapoor, Manav M; Wang, Jen-Chyong JC; Bertelsen, Sarah S; Bucholz, Kathy K; Budde, John P JP; Hinrichs, Anthony A; Agrawal, Arpana A; Brooks, Andrew A; Chorlian, David D; Dick, Danielle D; Hesselbrock, Victor V; Foroud, Tatiana T; Kramer, John J; Kuperman, Samuel S; Manz, Niklas N; Nurnberger, John J; Porjesz, Bernice B; Rice, John J; Tischfield, Jay J; Xuei, Xiaoling X; Schuckit, Marc M; Edenberg, Howard J HJ; Bierut, Laura J LJ; Goate, Alison M AM
Publication Date: 2012

Variant appearance in text: rs1948
PubMed Link: 22438940
Variant Present in the following documents:
  • Main text
View BVdb publication page



The CHRNA5/A3/B4 gene cluster and tobacco, alcohol, cannabis, inhalants and other substance use initiation: replication and new findings using mixture analyses.

Behavior Genetics
Lubke, Gitta H GH; Stephens, Sarah H SH; Lessem, Jeffrey M JM; Hewitt, John K JK; Ehringer, Marissa A MA
Publication Date: 2012-07

Variant appearance in text: rs1948
PubMed Link: 22382757
Variant Present in the following documents:
  • Main text
View BVdb publication page



A flexible Bayesian model for studying gene-environment interaction.

Plos Genetics
Yu, Kai K; Wacholder, Sholom S; Wheeler, William W; Wang, Zhaoming Z; Caporaso, Neil N; Landi, Maria Teresa MT; Liang, Faming F
Publication Date: 2012-01

Variant appearance in text: rs1948
PubMed Link: 22291610
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of detailed phenotype profiles reveals CHRNA5-CHRNA3-CHRNB4 gene cluster association with several nicotine dependence traits.

Nicotine & Tobacco Research : Official Journal Of The Society For Research On Nicotine And Tobacco
Broms, Ulla U; Wedenoja, Juho J; Largeau, Marine R MR; Korhonen, Tellervo T; Pitkäniemi, Janne J; Keskitalo-Vuokko, Kaisu K; Häppölä, Anja A; Heikkilä, Katri H KH; Heikkilä, Kauko K; Ripatti, Samuli S; Sarin, Antti-Pekka AP; Salminen, Outi O; Paunio, Tiina T; Pergadia, Michele L ML; Madden, Pamela A F PA; Kaprio, Jaakko J; Loukola, Anu A
Publication Date: 2012-06

Variant appearance in text: rs1948
PubMed Link: 22241830
Variant Present in the following documents:
  • Main text
View BVdb publication page



Externalizing behaviors are associated with SNPs in the CHRNA5/CHRNA3/CHRNB4 gene cluster.

Behavior Genetics
Stephens, Sarah H SH; Hoft, Nicole R NR; Schlaepfer, Isabel R IR; Young, Susan E SE; Corley, Robin C RC; McQueen, Matthew B MB; Hopfer, Christian C; Crowley, Thomas T; Stallings, Michael M; Hewitt, John J; Ehringer, Marissa A MA
Publication Date: 2012-05

Variant appearance in text: rs1948
PubMed Link: 22042234
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of sputum gene expression in chronic obstructive pulmonary disease.

Plos One
Qiu, Weiliang W; Cho, Michael H MH; Riley, John H JH; Anderson, Wayne H WH; Singh, Dave D; Bakke, Per P; Gulsvik, Amund A; Litonjua, Augusto A AA; Lomas, David A DA; Crapo, James D JD; Beaty, Terri H TH; Celli, Bartolome R BR; Rennard, Stephen S; Tal-Singer, Ruth R; Fox, Steven M SM; Silverman, Edwin K EK; Hersh, Craig P CP; ,
Publication Date: 2011

Variant appearance in text: rs1948
PubMed Link: 21949713
Variant Present in the following documents:
  • Main text
View BVdb publication page