CHRNA2

Summary

Gene Symbol: CHRNA2
Description: cholinergic receptor nicotinic alpha 2 subunit
Alias: neuronal acetylcholine receptor subunit alpha-2, acetylcholine receptor, nicotinic, alpha 2 (neuronal), cholinergic receptor, nicotinic alpha 2, cholinergic receptor, nicotinic, alpha 2 (neuronal), cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)
Species: human

Top Publications

  1. ncbi Nicotinic acetylcholine receptors: from structure to brain function
    R C Hogg
    Department of Physiology, CMU, 1 rue Michel Servet, 1211 Geneva 4, Switzerland
    Rev Physiol Biochem Pharmacol 147:1-46. 2003
  2. pmc Effect of genetic variation in the nicotinic receptor genes on risk for posttraumatic stress disorder
    Nathan A Kimbrel
    Durham Veterans Affairs Medical Center, Durham, NC, USA VA Mid Atlantic Mental Illness Research, Education and Clinical Center, Durham, NC, USA Department of Psychiatry and Behavioral Sciences, Duke University Medical Center, Durham, NC, USA Electronic address
    Psychiatry Res 229:326-31. 2015
  3. pmc Effect of neuronal nicotinic acetylcholine receptor genes (CHRN) on longitudinal cigarettes per day in adolescents and young adults
    Dale S Cannon
    Department of Psychiatry, University of Utah School of Medicine, Salt Lake City, UT
    Nicotine Tob Res 16:137-44. 2014
  4. pmc Significant associations of CHRNA2 and CHRNA6 with nicotine dependence in European American and African American populations
    Shaolin Wang
    Department of Psychiatry and Neurobehavioral Sciences, School of Medicine, University of Virginia, Charlottesville, VA, USA
    Hum Genet 133:575-86. 2014
  5. pmc A signal peptide missense mutation associated with nicotine dependence alters α2*-nicotinic acetylcholine receptor function
    Bhagirathi Dash
    Department of Psychiatry and Neurobehavioral Sciences, School of Medicine, University of Virginia, Charlottesville, VA 22911, USA
    Neuropharmacology 79:715-25. 2014
  6. pmc Two rare variations, D478N and D478E, that occur at the same amino acid residue in nicotinic acetylcholine receptor (nAChR) α2 subunit influence nAChR function
    Bhagirathi Dash
    Department of Psychiatry and Neurobehavioral Sciences, School of Medicine, University of Virginia, Charlottesville, VA 22903, USA
    Neuropharmacology 85:471-81. 2014
  7. pmc Expression of acetylcholine receptors by experimental rat renal allografts
    Marion Meixner
    Laboratory of Experimental Surgery, Department of General and Thoracic Surgery, Justus Liebig University Giessen, Feulgenstraße 10 12, 35392 Giessen, Germany
    Biomed Res Int 2014:289656. 2014
  8. doi Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5
    Stephanie Baulac
    Sorbonne Universités, UPMC Univ Paris 06, UM 75, Paris, France INSERM, U1127, Paris, France CNRS, UMR 7225, Paris, France Institut du Cerveau et de la Moëlle épinière, ICM, Paris, France Electronic address
    Prog Brain Res 213:123-39. 2014
  9. doi A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in a Chinese patient with non-familial nocturnal frontal lobe epilepsy
    Meng yang Wang
    Epilepsy Center and Department of Neurology, Beijing Sanbo Brain Hospital, Capital Medical University, 50, Xiang shan yi ke song, Haidian District 100093, China Electronic address
    Epilepsy Res 108:1927-31. 2014
  10. pmc The contribution of rare and common variants in 30 genes to risk nicotine dependence
    J Yang
    Department of Psychiatry and Neurobehavioral Sciences, University of Virginia, Charlottesville, VA, USA
    Mol Psychiatry 20:1467-78. 2015

Research Grants

  1. Paul D Gardner; Fiscal Year: 2014
  2. Measuring Sensitivity to Nonignorability
    Daniel Heitjan; Fiscal Year: 2003
  3. A thyroid receptor co-activator hypothesis for psychosis
    Robert Philibert; Fiscal Year: 2005
  4. Genetic Studies of Substance Abuse in Iowa Adoptees
    Robert Philibert; Fiscal Year: 2008
  5. Statistical methods in smoking cessation research
    Daniel Heitjan; Fiscal Year: 2009

Scientific Experts

  • Robert Philibert
  • Stephanie Baulac
  • Nancy L Saccone
  • Nathan A Kimbrel
  • Shahrdad Lotfipour
  • Jinju Kim
  • Motohiro Okada
  • Romina Combi
  • Robin P Corley
  • S V Faraone
  • D F Heitjan
  • Falk W Lohoff
  • Ron C Hogg
  • Patrick F Sullivan
  • Taro Kishi
  • Carla Marini
  • Rafael Tabares-Seisdedos
  • Paul D Gardner
  • Bhagirathi Dash
  • Hanna Wootz
  • A Rigbi
  • Jean Charles Hoda
  • Ming D Li
  • Klas Kullander
  • Martin Larhammar
  • Daniel Bertrand
  • Ortrud K Steinlein
  • Wenli Gu
  • Morgane Boillot
  • Valerio Conti
  • Marina Trivisano
  • Ana Pombero
  • J Yang
  • Sharn Perry
  • Dale S Cannon
  • Meng yang Wang
  • Shaolin Wang
  • Marion Meixner
  • Travis M Rotterman
  • Kalicharan Patra
  • Elodie André
  • Francisco J Alvarez
  • Brigitte van Zundert
  • Anders Enjin
  • Eileen Fitzsimons-Kantamneni
  • James W Schroeder
  • Hui Liu
  • Zhi Hong Chen
  • Su Kyeong Hwang
  • Andrea Becchetti
  • Renzo Guerrini
  • Liwen Wu
  • Jennifer Wessel
  • A Yakir
  • Y Pollak
  • Shinichi Hirose
  • B Lerer
  • Marios Zouridakis
  • Yan Chen
  • Fernando Díaz-Otero
  • Gang Zhu
  • Elvira V De Marco
  • Jiajun Shi
  • Paolo Aridon
  • Pei Jin
  • Boris Lamotte d'Incamps
  • Laura Chiti
  • M D Li
  • Katarina E Leao
  • Z Yang
  • Simone Brusco
  • Teresa Milano
  • J Z Ma
  • Francesco Mari
  • T J Payne
  • Markus M Hilscher
  • Federico Vigevano
  • Claudio Liguori
  • Angela Marchi
  • Simona Cappelletti
  • Fabio Placidi
  • Enrico Silvio Bertini
  • Salvador Martinez
  • Nicola Specchio
  • Patrizia Aracri
  • P Iarikova
  • C A Hodgkinson
  • Andrea Romigi
  • Nicola Pietrafusa
  • S Wang

Detail Information

Publications63

  1. ncbi Nicotinic acetylcholine receptors: from structure to brain function
    R C Hogg
    Department of Physiology, CMU, 1 rue Michel Servet, 1211 Geneva 4, Switzerland
    Rev Physiol Biochem Pharmacol 147:1-46. 2003
    ..A genetically transmissible epilepsy, ADNFLE, has been associated with specific mutations in the gene coding for the alpha4 or beta2 subunits, which leads to altered receptor properties...
  2. pmc Effect of genetic variation in the nicotinic receptor genes on risk for posttraumatic stress disorder
    Nathan A Kimbrel
    Durham Veterans Affairs Medical Center, Durham, NC, USA VA Mid Atlantic Mental Illness Research, Education and Clinical Center, Durham, NC, USA Department of Psychiatry and Behavioral Sciences, Duke University Medical Center, Durham, NC, USA Electronic address
    Psychiatry Res 229:326-31. 2015
    The present study examined the association between genetic variation in the nicotinic receptor gene family (CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7, CHRNA9, CHRNA10, CHRNB2, CHRNB3, CHRNB4) and the occurrence of posttraumatic ..
  3. pmc Effect of neuronal nicotinic acetylcholine receptor genes (CHRN) on longitudinal cigarettes per day in adolescents and young adults
    Dale S Cannon
    Department of Psychiatry, University of Utah School of Medicine, Salt Lake City, UT
    Nicotine Tob Res 16:137-44. 2014
    ..Few studies have sought to identify specific genetic markers associated with cigarettes per day (CPD) during adolescence and young adulthood, the period of greatest vulnerability for the development of nicotine dependence...
  4. pmc Significant associations of CHRNA2 and CHRNA6 with nicotine dependence in European American and African American populations
    Shaolin Wang
    Department of Psychiatry and Neurobehavioral Sciences, School of Medicine, University of Virginia, Charlottesville, VA, USA
    Hum Genet 133:575-86. 2014
    ..In this study, we first examined the association of variants in nAChR subunits α2 (CHRNA2) and α6 (CHRNA6) genes on chromosome 8 with ND using a family sample consisting of 1,730 European Americans (EAs) ..
  5. pmc A signal peptide missense mutation associated with nicotine dependence alters α2*-nicotinic acetylcholine receptor function
    Bhagirathi Dash
    Department of Psychiatry and Neurobehavioral Sciences, School of Medicine, University of Virginia, Charlottesville, VA 22911, USA
    Neuropharmacology 79:715-25. 2014
    ..To our knowledge this is the first report of a SP mutation having a functional effect in a member of cys-loop family of ligand-gated ion channels. ..
  6. pmc Two rare variations, D478N and D478E, that occur at the same amino acid residue in nicotinic acetylcholine receptor (nAChR) α2 subunit influence nAChR function
    Bhagirathi Dash
    Department of Psychiatry and Neurobehavioral Sciences, School of Medicine, University of Virginia, Charlottesville, VA 22903, USA
    Neuropharmacology 85:471-81. 2014
    ..These effects could be attributed to alteration in cytoplasmic 'portals' and/or ion permeation through it owing to change in amino acid electronegativity (D → N) and side chain length (D → E) in nAChR α2 subunit. ..
  7. pmc Expression of acetylcholine receptors by experimental rat renal allografts
    Marion Meixner
    Laboratory of Experimental Surgery, Department of General and Thoracic Surgery, Justus Liebig University Giessen, Feulgenstraße 10 12, 35392 Giessen, Germany
    Biomed Res Int 2014:289656. 2014
    ..We detected CHRNA2-7, CHRNA10, CHRNB2, CHRNB4, and CHRM1-3 mRNA in normal kidneys and in renal transplants...
  8. doi Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5
    Stephanie Baulac
    Sorbonne Universités, UPMC Univ Paris 06, UM 75, Paris, France INSERM, U1127, Paris, France CNRS, UMR 7225, Paris, France Institut du Cerveau et de la Moëlle épinière, ICM, Paris, France Electronic address
    Prog Brain Res 213:123-39. 2014
    ..they are mediated by different biological pathways: ion channel subunit genes have been linked to ADNFLE (CHRNA4, CHRNA2, CHRNB2, and KCNT1, encoding, respectively, the α4, α2, and β2 subunits of the neuronal nicotinic acetylcholine ..
  9. doi A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in a Chinese patient with non-familial nocturnal frontal lobe epilepsy
    Meng yang Wang
    Epilepsy Center and Department of Neurology, Beijing Sanbo Brain Hospital, Capital Medical University, 50, Xiang shan yi ke song, Haidian District 100093, China Electronic address
    Epilepsy Res 108:1927-31. 2014
    ..We designed mutation screening of exon 5 of CHRNA4, exon 5 of CHRNB2, and exon 6 of CHRNA2 in a group of 56 Chinese sporadic NFLE cases...
  10. pmc The contribution of rare and common variants in 30 genes to risk nicotine dependence
    J Yang
    Department of Psychiatry and Neurobehavioral Sciences, University of Virginia, Charlottesville, VA, USA
    Mol Psychiatry 20:1467-78. 2015
    ..Rare variants in NRXN1, CHRNA9, CHRNA2, NTRK2, GABBR2, GRIN3A, DNM1, NRXN2, NRXN3 and ARRB2 were significantly associated with smoking status in the ..
  11. doi The α2-subunit of the nicotinic cholinergic receptor is specifically expressed in medial subpallium-derived cells of mammalian amygdala
    Ana Pombero
    Neurosciences Institute, University Miguel Hernandez Spanish National Research Council CSIC, San Juan de Alicante, 03550, Spain
    J Comp Neurol 523:1608-21. 2015
    ..Previous studies have shown that the α2-subunit of the AChR (Chrna2) is expressed in the basal forebrain, in the septum, and in some amygdalar nuclei in the adult rodent brain...
  12. doi Firing properties of Renshaw cells defined by Chrna2 are modulated by hyperpolarizing and small conductance ion currents Ih and ISK
    Sharn Perry
    Department of Neuroscience, Uppsala University, Box 593, 751 24, Uppsala, Sweden
    Eur J Neurosci 41:889-900. 2015
    ..Here we aimed to investigate whether the cholinergic nicotinic receptor alpha2 (Chrna2) can be used to identify Renshaw cells (RCs(α2)) in the mouse spinal cord...
  13. pmc Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function
    Valerio Conti
    From the Pediatric Neurology and Neurogenetics Unit and Laboratories V C, L C, F M, C M, R G, A Meyer Children s Hospital University of Florence Department of Biotechnology and Biosciences and Center of Neuroscience P A, S B, A B, Universita di Milano Bicocca, Milan Neurophysiopathology Unit M A, A M, C L, F P, A R, Sleep and Epilepsy Center, Department of Systems Medicine, University of Rome Tor Vergata General Hospital, Rome IRCCS Neuromed A R, Pozzilli, Isernia and IRCCS Stella Maris Foundation R G, Calambrone, Pisa, Italy
    Neurology 84:1520-8. 2015
    We assessed the mutation frequency in nicotinic acetylcholine receptor (nAChR) subunits CHRNA4, CHRNB2, and CHRNA2 in a cohort including autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and sporadic nocturnal frontal lobe ..
  14. doi Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy
    Marina Trivisano
    Division of Neurology, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Epilepsia 56:e53-7. 2015
    ..We report CHRNA2 missense mutation in a family with benign familial infantile seizures (BFIS)...
  15. doi Genetic models of focal epilepsies
    Morgane Boillot
    INSERM, U 1127, ICM, F 75013 Paris, France CNRS, UMR 7225, ICM, F 75013 Paris, France Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F 75013 Paris, France Institut du Cerveau et de la Moëlle épinière, ICM, F 75013 Paris, France
    J Neurosci Methods 260:132-43. 2016
    ..provide an update on the mutational spectrum of neuronal nicotinic acetylcholine receptor genes (CHRNA4, CHRNB2, CHRNA2) and KCNT1 causing autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), and of LGI1 in autosomal dominant ..
  16. pmc Targeted deletion of the mouse α2 nicotinic acetylcholine receptor subunit gene (Chrna2) potentiates nicotine-modulated behaviors
    Shahrdad Lotfipour
    Department of Psychiatry and Biobehavioral Sciences, Hatos Center for Neuropharmacology, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, California 90024, USA
    J Neurosci 33:7728-41. 2013
    ..assessed in mice harboring a null mutant allele of the nicotinic acetylcholine receptor (nAChR) subunit gene α2 (Chrna2)...
  17. doi Alterations in the motor neuron-renshaw cell circuit in the Sod1(G93A) mouse model
    Hanna Wootz
    Department of Neuroscience, Uppsala University, 75124 Uppsala, Sweden
    J Comp Neurol 521:1449-69. 2013
    ..Using two markers for Renshaw cells (calbindin and cholinergic nicotinic receptor subunit alpha2 [Chrna2]), two general markers for motor neurons (NeuN and vesicular acethylcholine transporter [VAChT]), and two markers ..
  18. pmc DNA methylation in neonates born to women receiving psychiatric care
    James W Schroeder
    Genetics and Molecular Biology Program, Emory University, Atlanta, GA, USA
    Epigenetics 7:409-14. 2012
    ..Exposure to an antidepressant medication was associated with differential methylation of CpG sites in TNFRSF21 and CHRNA2 (false discovery rate < 0...
  19. pmc Alterations in the motor neuron-renshaw cell circuit in the Sod1(G93A) mouse model
    Hanna Wootz
    Department of Neuroscience, Uppsala University, 75124 Uppsala, Sweden
    J Comp Neurol 521:1449-69. 2013
    ..Using two markers for Renshaw cells (calbindin and cholinergic nicotinic receptor subunit alpha2 [Chrna2]), two general markers for motor neurons (NeuN and vesicular acethylcholine transporter [VAChT]), and two markers ..
  20. doi Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation
    Su Kyeong Hwang
    Department of Pediatrics, School of Medicine, Fukuoka University, 45 1, 7 chome Nanakuma, Jonan ku, Fukuoka, Japan
    J Hum Genet 56:609-12. 2011
    ..Clinically available molecular genetic testing reveals mutations in three genes, CHRNA4, CHRNB2 and CHRNA2. Mutations in CHRNA4 have been found in families from different countries; the Ser280Phe in an Australian, Spanish,..
  21. doi The identification of a novel mutation of nicotinic acetylcholine receptor gene CHRNB2 in a Chinese patient: Its possible implication in non-familial nocturnal frontal lobe epilepsy
    Hui Liu
    Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, 1 Shuaifuyuan, Dongdan, Beijing, China
    Epilepsy Res 95:94-9. 2011
    ..ADNFLE) is partly caused by mutations in the nicotinic acetylcholine receptor (nAChR) genes CHRNA4, CHRNB2, and CHRNA2. Cases of non-familial nocturnal frontal lobe epilepsy (NFLE) are more common than the familial type and the ..
  22. doi [Mutational analysis of CHRNB2 and CHRNA2 genes in southern Chinese population with autosomal dominant nocturnal frontal lobe epilepsy]
    Zhi Hong Chen
    Department of Pediatrics, Guangdong General Hospital, Guangdong Neuroscience Institute, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, 510080 PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 28:14-8. 2011
    To investigate the gene mutations of CHRNB2 and CHRNA2 in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).
  23. doi Advances on the genetics of Mendelian idiopathic epilepsies
    Stephanie Baulac
    CRICM UPMC Paris6 UMR S975 Inserm U975 CNRS UMR 7225, F 75013, Bâtiment Pharmacie, Hôpital de Pitié Salpêtrière, 47 Boulevard de l Hopital, 75013 Paris, France
    Clin Lab Med 30:911-29. 2010
    ..in multigenerational families with autosomal dominant transmission have revealed 11 genes (KCNQ2, KCNQ3, CHRNA4, CHRNA2, CHRNB2, SCN1B, SCN1A, SCN2A, GABRG2, GABRA1, and LGI1) and numerous loci for febrile seizures and epilepsies...
  24. pmc Resequencing of nicotinic acetylcholine receptor genes and association of common and rare variants with the Fagerström test for nicotine dependence
    Jennifer Wessel
    Center for Health Sciences, SRI International, Menlo Park, CA 94025, USA
    Neuropsychopharmacology 35:2392-402. 2010
    ..Both common and/or rare SNP/SNVs from multiple nAChR subunit genes are associated with the FTND score in this sample of treatment-seeking smokers...
  25. pmc Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans
    N L Saccone
    Department of Genetics, Washington University, Saint Louis, MO 63110, USA
    Genes Brain Behav 9:741-50. 2010
    ..Multiple nicotinic receptor subunit genes outside chromosome 15q25 are likely to be important in the biological processes and development of nicotine dependence, and some of these risks may be shared across diverse populations...
  26. doi Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer
    R Tabares-Seisdedos
    Teaching Unit of Psychiatry and Psychological Medicine, Department of Medicine, CIBER SAM, University of Valencia, Valencia, Spain
    Mol Psychiatry 14:563-89. 2009
    ..Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 ..
  27. ncbi [Generation of epilepsy animal model bearing a genetic abnormality identified in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) of humans]
    Motohiro Okada
    Department of Psychiatry, Division of Neuroscience, Graduate School of Medicine, Mie University, 2 174, Edobashi, Tsu, 814 8507 Japan
    Nihon Shinkei Seishin Yakurigaku Zasshi 30:9-14. 2010
    ..Mutations of CHRNA4, CHRNB2, or CHRNA2 genes encoding alpha4, beta2 or alpha2 subunits of neuronal nicotinic ACh receptor (nAChR) have been identified in ..
  28. doi Why do young women smoke? VI. A controlled study of nicotine effects on attention: pharmacogenetic interactions
    A Rigbi
    Biological Psychiatry Laboratory, Department of Psychiatry, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Pharmacogenomics J 11:45-52. 2011
    ..This effect may be modified by a specific genetic make-up. Such individuals may be at increased risk for nicotine addiction and for greater difficulties in smoking cessation...
  29. doi Advances on the genetics of mendelian idiopathic epilepsies
    Stephanie Baulac
    UPMC Inserm, UMR_S975, CRicm, F 75013, Bâtiment Pharmacie, Hopital de la Pitie Salpetriere, 47 Boulevard de l Hopital, 75013 Paris, France
    Neurol Clin 27:1041-61. 2009
    ..in multi-generational families with autosomal dominant transmission have revealed 11 genes (KCNQ2, KCNQ3, CHRNA4, CHRNA2, CHRNB2, SCN1B, SCN1A, SCN2A, GABRG2, GABRA1, and LGI1) and numerous loci for febrile seizures and epilepsies...
  30. doi Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene
    Jean Charles Hoda
    Department of Neuroscience, Medical Faculty, Geneva, Switzerland
    FEBS Lett 583:1599-604. 2009
    ..a point mutation (alpha2-I279N) associated with sleep-related epilepsy has been described in a third nAChR gene, CHRNA2. We demonstrate here that alpha2-I279N can be co-expressed with the major structural subunit CHRNB2...
  31. pmc Examination of the nicotine dependence (NICSNP) consortium findings in the Iowa adoption studies population
    Robert A Philibert
    Department of Psychiatry and Neuroscience and Genetics Programs, University of Iowa, Rm 2 126 MEB, Iowa City, IA 52242, USA
    Nicotine Tob Res 11:286-92. 2009
    ..Two of the most prominent studies were conducted by the Collaborative Study of the Genetics of Nicotine Dependence (NICSNP) Consortium using both candidate gene and high-density association approaches...
  32. pmc Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes
    Nancy L Saccone
    Department of Genetics, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Am J Med Genet B Neuropsychiatr Genet 150:453-66. 2009
    ....
  33. ncbi Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy
    Elvira V De Marco
    Institute of Neurological Sciences, National Research Council, Mangone CS, Italy
    Epilepsy Res 74:70-3. 2007
    ..Here, we investigated whether nine brain-expressed genes (CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7, CHRNB2, CHRNB3, CHRNB4), encoding distinct nAChR subunits, and CRH are ..
  34. ncbi Identification of the human neuronal nicotinic cholinergic alpha 2 receptor locus, (CHRNA2), within an 8p21 mapped locus, by sequence homology with rat DNA
    S Wood
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    Somat Cell Mol Genet 21:147-50. 1995
    ..A 357-bp sequence surrounding a rare cutter AscI site contains a 152-bp region of homology. The human CHRNA2 gene is therefore positioned at the D8S131 locus, which has been mapped to 8p21.
  35. pmc Effects of serotonergic agents on neuronal nicotinic acetylcholine receptors
    J García-Colunga
    Department of Psychobiology, University of California, Irvine 92717 4550, USA
    Proc Natl Acad Sci U S A 92:2919-23. 1995
    ..These effects may help to better understand brain functions as well as the mode of action of the many serotonergic agents that are used in medical practice...
  36. ncbi Comparative structure of human neuronal alpha 2-alpha 7 and beta 2-beta 4 nicotinic acetylcholine receptor subunits and functional expression of the alpha 2, alpha 3, alpha 4, alpha 7, beta 2, and beta 4 subunits
    K J Elliott
    SIBIA Neurosciences Inc, La Jolla, CA, USA
    J Mol Neurosci 7:217-28. 1996
    ....
  37. ncbi Pharmacological characterization of recombinant human neuronal nicotinic acetylcholine receptors h alpha 2 beta 2, h alpha 2 beta 4, h alpha 3 beta 2, h alpha 3 beta 4, h alpha 4 beta 2, h alpha 4 beta 4 and h alpha 7 expressed in Xenopus oocytes
    L E Chavez-Noriega
    SIBIA Neurosciences, Inc, La Jolla, California, USA
    J Pharmacol Exp Ther 280:346-56. 1997
    ..The unique selectivity profiles displayed by human nAChRs constitute a valuable tool for the development of selective nicotinic analogs as potential therapeutic drugs...
  38. ncbi Expression of the alpha 7 subunit of the nicotinic acetylcholine receptor in normal and myasthenic human thymuses
    D Navaneetham
    Department of Biochemistry, University of Minnesota, St Paul 55108, USA
    Cell Mol Biol (Noisy-le-grand) 43:433-42. 1997
    ..The demonstration of expression of the alpha 7 subunit in the thymus suggests that alpha-bungarotoxin binding, functional AChRs of the neuronal type are normally present in the thymus...
  39. ncbi Diversity of mRNA expression for muscarinic acetylcholine receptor subtypes and neuronal nicotinic acetylcholine receptor subunits in human mononuclear leukocytes and leukemic cell lines
    K Z Sato
    Department of Pharmacology, Kyoritsu College of Pharmacy, Tokyo, Japan
    Neurosci Lett 266:17-20. 1999
    ..These results indicate that both neuronal-type Nc and Ms ACh receptors are present on the surface of lymphocytes...
  40. ncbi Genetic association studies of schizophrenia using the 8p21-22 genes: prepronociceptin (PNOC), neuronal nicotinic cholinergic receptor alpha polypeptide 2 (CHRNA2) and arylamine N-acetyltransferase 1 (NAT1)
    E Blaveri
    Molecular Psychiatry Laboratory, Windeyer Institute of Medical Sciences, Department of Psychiatry and Behavioural Sciences, Royal Free and University College London Medical School, Windeyer Building, 46 Cleveland Street, London W1P 6DB, UK
    Eur J Hum Genet 9:469-72. 2001
    ..susceptibility genes, prepronociceptin (PNOC), neuronal cholinergic receptor, nicotinic, alpha polypeptide 2 (CHRNA2) and arylamine N-acetyltransferase 1 (NAT1) have been mapped to chromosome 8p21-22...
  41. ncbi How mutations in the nAChRs can cause ADNFLE epilepsy
    D Bertrand
    Department of Physiology, CMU, 1 rue Michel Servet, 1211 Geneva 4, Switzerland
    Epilepsia 43:112-22. 2002
    ....
  42. ncbi Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families
    Maria Teresa Bonati
    Department of Biology and Genetics for Medical Sciences, University of Milan, via Viotti 3 5, 20133 Milan, Italy
    J Neurol 249:967-74. 2002
    ..of all genes coding for brain-expressed nAChR subunits, with known chromosome localization ( CHRNB2, 1q21; CHRNA2, 8p21; CHRNA6, CHRNB3, 8p11.2; CHRNA7, 15q14; CHRNA5/A3/B4, 15q24 and CHRNA4, 20q13...
  43. ncbi Candidate genes for nicotine dependence via linkage, epistasis, and bioinformatics
    Patrick F Sullivan
    Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, VA, USA
    Am J Med Genet B Neuropsychiatr Genet 126:23-36. 2004
    ..nuclear factor kappa B (NFKB) complex, neuropeptide Y (NPY) neurotransmission, a nicotinic receptor subunit (CHRNA2), the vesicular monoamine transporter (SLC18A2), genes in pathways implicated in human anxiety (HTR7, TDO2, and ..
  44. ncbi A novel permutation testing method implicates sixteen nicotinic acetylcholine receptor genes as risk factors for smoking in schizophrenia families
    Stephen V Faraone
    Department of Psychiatry at Massachusetts General Hospital, Harvard Medical School, 37 Shields Avenue, Boston, MA 02301, USA
    Hum Hered 57:59-68. 2004
    ..039). In addition, two of the individual candidate genes were significant (CHRNA2, p = 0.044) and (CHRNB2, p = 0.015) and two genes were marginally significant (CHRNA7, p = 0.095; CHRNA1, p = 0...
  45. ncbi No association between common variations in the neuronal nicotinic acetylcholine receptor alpha2 subunit gene (CHRNA2) and bipolar I disorder
    Falk W Lohoff
    School of Medicine Center for Neurobiology and Behavior, Department of Psychiatry, University of Pennsylvania, Clinical Research Building, Room 135a, 415 Curie Boulevard, Philadelphia, PA 19104 6140, USA
    Psychiatry Res 135:171-7. 2005
    The neuronal nicotinic acetylcholine receptor alpha2 subunit gene (CHRNA2) maps to the bipolar susceptibility locus on chromosome 8p21-22...
  46. pmc Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear
    Paolo Aridon
    Human Molecular Genetics Unit, DIBIT San Raffaele Scientific Institute, Milan, Italy
    Am J Hum Genet 79:342-50. 2006
    ..3-8q12.3. By sequencing the positional candidate neuronal cholinergic receptor alpha 2 subunit gene (CHRNA2), we detected a heterozygous missense mutation, I279N, in the first transmembrane domain that is crucial for ..
  47. ncbi Chromosomal localization of seven neuronal nicotinic acetylcholine receptor subunit genes in humans
    R Anand
    David Mahoney Institute of Neurological Sciences, University of Pennsylvania, Philadelphia 19104 6074
    Genomics 13:962-7. 1992
    ....
  48. pmc No evidence for association between 19 cholinergic genes and bipolar disorder
    Jiajun Shi
    Department of Psychiatry, The University of Chicago, Chicago, Illinois 60637, USA
    Am J Med Genet B Neuropsychiatr Genet 144:715-23. 2007
    ..test (sib_TDT) analysis showed nominally significant transmission bias for four SNPs (CHRNA2: rs7017417, P = 0.024; CHRNA5: rs514743, P = 0.031; CHRNB1: rs2302762, P = 0.049; CHRNB4: rs1948, P = 0.031)...
  49. ncbi Why do young women smoke? V. Role of direct and interactive effects of nicotinic cholinergic receptor gene variation on neurocognitive function
    A Rigbi
    Biological Psychiatry Laboratory, Department of Psychiatry, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Genes Brain Behav 7:164-72. 2008
    ..Response inhibition (MFFT, Stroop, CPT Loading Phase, TOL) was associated with variants in CHRNA2, CHRNA4, CHRNA5, CHRNA7, CHRNA9, CHRNA10, CHRNB2 and CHRNB3...
  50. ncbi A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely
    Wenli Gu
    Institute of Human Genetics, University Hospital, University of Munich, Goethestr 29, 80336 Munich, Germany
    Neurosci Lett 422:74-6. 2007
    ..A third nAChR gene, CHRNA2, has been recently reported as mutated in an Italian family with nocturnal frontal lobe epilepsy, nocturnal ..
  51. ncbi The role of the nicotinic acetylcholine receptors in sleep-related epilepsy
    Carla Marini
    Epilepsy, Neurophysiology and Neurogenetics Unit, Department of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Pisa, Italy
    Biochem Pharmacol 74:1308-14. 2007
    ..a minority of them have been linked to mutations in the genes coding for the alpha4, alpha2 and beta2 (CHRNA4, CHRNA2, and CHRNB2) subunits of the nAChRs, indicating that ADNFLE is genetically heterogeneous despite a relatively ..
  52. ncbi Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene
    Fernando Díaz-Otero
    Epilepsy Unit, Neurology Service, Fundacion Jimenez Diaz, Madrid, Spain
    Epilepsia 49:516-20. 2008
    ..has been associated with mutations in the genes coding for the alfa-4 (CHRNA4), beta-2 (CHRNB2), and alpha-2 (CHRNA2) subunits of the neuronal nicotinic acetylcholine receptor (nAChR) and for the corticotropin-releasing hormone (..
  53. pmc Identification of pharmacogenetic markers in smoking cessation therapy
    Daniel F Heitjan
    Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet B Neuropsychiatr Genet 147:712-9. 2008
    ..polymorphisms (SNPs) located on 11 candidate genes, we identify four SNPs (one each on CHRNA5 and CHRNA2 and two on CHAT) that appear to have pharmacogenetic relevance...
  54. doi CHRNA2 mutations are rare in the NFLE population: evaluation of a large cohort of Italian patients
    Romina Combi
    Department of Biotechnology and Biosciences, University of Milano Bicocca, P zza della Scienza 2, 20126 Milano, Italy
    Sleep Med 10:139-42. 2009
    ..nAChRs) subunits associated to the disease were previously excluded) were analyzed for the presence of mutations in the CHRNA2 gene coding for the alpha2 subunit of the same receptor, which has been recently associated with the disease.
  55. pmc Association of candidate genes with antisocial drug dependence in adolescents
    Robin P Corley
    Institute for Behavioral Genetics, University of Colorado, 447 UCB, Boulder, CO 80309, USA
    Drug Alcohol Depend 96:90-8. 2008
    ..000001), two genes probed with multiple SNPs (OPRM1 and CHRNA2) emerged as plausible candidates for a role in antisocial drug dependence after gene-based permutation tests...
  56. doi Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore
    Jean Charles Hoda
    Department of Neuroscience, University of Geneva, CMU, 1, rue M Servet, CH 1211 Geneva 4, Switzerland
    Mol Pharmacol 74:379-91. 2008
    ..specific parts of the neuronal nicotinic acetylcholine receptor (nAChR) subunit genes CHRNA4, CHRNB2, and probably CHRNA2, can cause autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)...
  57. doi Association of CHRNA2 polymorphisms with overweight/obesity and clinical characteristics in a Korean population
    Jinju Kim
    Department of Oriental Physiology, College of Pharmacy, Kyung Hee University, Seoul, Korea
    Clin Chem Lab Med 46:1085-9. 2008
    ..Genes correlated with nicotine may be important in obesity because of the role of nicotine in food intake...
  58. doi Alpha4 and beta2 subunits of neuronal nicotinic acetylcholine receptor genes are not associated with methamphetamine-use disorder in the Japanese population
    Taro Kishi
    Department of Psychiatry, Fujita Health University School of Medicine, Toyoake, Japan
    Ann N Y Acad Sci 1139:70-82. 2008
    ..In conclusion, our results suggest that neither CHRNA4 nor CHRNB2 plays a major role in Japanese METH-use disorder...
  59. doi Rats harboring S284L Chrna4 mutation show attenuation of synaptic and extrasynaptic GABAergic transmission and exhibit the nocturnal frontal lobe epilepsy phenotype
    Gang Zhu
    Department of Neuropsychiatry, Institute of Brain Science, Graduate School of Medicine, Hirosaki University, Hirosaki 036 8562, Japan
    J Neurosci 28:12465-76. 2008
    Mutations of genes encoding alpha4, beta2, or alpha2 subunits (CHRNA4, CHRNB2, or CHRNA2, respectively) of nAChR [neuronal nicotinic ACh (acetylcholine) receptor] cause nocturnal frontal lobe epilepsy (NFLE) in human...
  60. doi A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy
    Yan Chen
    Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Dong Dan, Beijing, China
    Epilepsy Res 83:152-6. 2009
    ..nicotinic acetylcholine receptor (nAChR) alpha4-subunit (CHRNA4), beta2-subunit (CHRNB2) and alpha2-subunit (CHRNA2)...
  61. doi Design and expression of human alpha7 nicotinic acetylcholine receptor extracellular domain mutants with enhanced solubility and ligand-binding properties
    Marios Zouridakis
    Department of Biochemistry, Hellenic Pasteur Institute, 127, GR11521, Athens, Greece
    Biochim Biophys Acta 1794:355-66. 2009
    ....
  62. ncbi PCR isolation and cloning of novel splice variant mRNAs from known drug target genes
    Pei Jin
    Incyte Corporation, 3160 Porter Drive, Palo Alto, CA 94304, USA
    Genomics 83:566-71. 2004
    ..Our findings demonstrate the existence of many novel alternatively spliced mRNA transcripts and suggest that many more genes undergo functionally significant alternative splicing than previously thought...

Research Grants5

  1. Paul D Gardner; Fiscal Year: 2014
    ..or heteromeric combinations of ? and ? subunits, which include ? 2 - ? 10 (encoded by the genes designated CHRNA2-10) and ? 2 - ? 4 (CHRNB2-4)...
  2. Measuring Sensitivity to Nonignorability
    Daniel Heitjan; Fiscal Year: 2003
    ..abstract_text> ..
  3. A thyroid receptor co-activator hypothesis for psychosis
    Robert Philibert; Fiscal Year: 2005
    ..The net effect will be to produce an independent investigator capable of functional and translational research. ..
  4. Genetic Studies of Substance Abuse in Iowa Adoptees
    Robert Philibert; Fiscal Year: 2008
    ..unreadable] [unreadable]..
  5. Statistical methods in smoking cessation research
    Daniel Heitjan; Fiscal Year: 2009
    ..It is anticipated, however, that the resulting methods will be applicable more broadly to clinical research on outcomes that experience alternating periods of relapse and remission. ..