CHRNA2

Summary

Gene Symbol: CHRNA2
Description: cholinergic receptor, nicotinic, alpha 2 (neuronal)
Alias: acetylcholine receptor, nicotinic, alpha 2 (neuronal), cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal), neuronal acetylcholine receptor subunit alpha-2
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 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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

Research Grants

Scientific Experts

  • Robert Philibert
  • Nancy L Saccone
  • Shahrdad Lotfipour
  • Motohiro Okada
  • Taro Kishi
  • Romina Combi
  • Robin P Corley
  • Jinju Kim
  • D F Heitjan
  • Carla Marini
  • Falk W Lohoff
  • Ron C Hogg
  • Patrick F Sullivan
  • S V Faraone
  • Rafael Tabares-Seisdedos
  • Hanna Wootz
  • A Rigbi
  • Stephanie Baulac
  • Jean Charles Hoda
  • Daniel Bertrand
  • Ortrud K Steinlein
  • Wenli Gu
  • Kalicharan Patra
  • Brigitte van Zundert
  • Klas Kullander
  • Anders Enjin
  • Elodie André
  • Martin Larhammar
  • Francisco J Alvarez
  • Travis M Rotterman
  • Eileen Fitzsimons-Kantamneni
  • James W Schroeder
  • Zhi Hong Chen
  • Hui Liu
  • Su Kyeong Hwang
  • Jennifer Wessel
  • Liwen Wu
  • Y Pollak
  • Shinichi Hirose
  • A Yakir
  • B Lerer
  • Michel Baulac
  • Yan Chen
  • Marios Zouridakis
  • Fernando Díaz-Otero
  • Gang Zhu
  • Elvira V De Marco
  • Jiajun Shi
  • Paolo Aridon
  • Pei Jin
  • D Bertrand
  • Maria Teresa Bonati
  • D Jeffrey Newport
  • Patricia A Brennan
  • Alicia K Smith
  • E Blaveri
  • Varun Kilaru
  • Zachary N Stowe
  • Joseph F Cubells
  • Karen N Conneely
  • Bettina T Knight
  • Yoshio Makita
  • Xu Ma
  • K Sarner-Kanyas
  • Ying Hao
  • Cailing Lu
  • Qiang Lu
  • Jian Ding
  • Yong Won Cho
  • Yu Xin Zhang
  • Hirokazu Kurahashi
  • Shiyi Zhou
  • Xiaoqiao Li
  • Qiong xiang Zhai
  • Liri Ji
  • Zhenzhong Li
  • Juan Gui
  • Ruijuan Lv
  • Yu xiong Guo
  • Jill Hardin
  • Martha Michel
  • Renee P Stokowski
  • Lisa Jack
  • David A Hinds
  • Jennifer B McClure
  • Harold S Javitz
  • L E Chavez-Noriega
  • Dennis G Ballinger
  • Steven J Pitts
  • Andrew W Bergen

Detail Information

Publications49

  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 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)...
  3. 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 ..
  4. 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 ..
  5. 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...
  6. 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...
  7. 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
    ....
  8. 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 ..
  9. 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
    ....
  10. 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)...
  11. 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...
  12. 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...
  13. 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...
  14. 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...
  15. 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...
  16. 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,..
  17. 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 ..
  18. 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).
  19. 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...
  20. 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...
  21. 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...
  22. 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 ..
  23. 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...
  24. 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)...
  25. 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...
  26. 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.
  27. 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...
  28. 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
    ....
  29. 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...
  30. 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...
  31. 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...
  32. 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...
  33. 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
    ....
  34. 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...
  35. 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.
  36. 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
    ....
  37. 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 ..
  38. 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...
  39. 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 (..
  40. 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 ..
  41. 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 ..
  42. 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...
  43. 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)...
  44. 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 ..
  45. 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 ..
  46. 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...
  47. 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...
  48. 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 Grants17

  1. 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. ..
  2. Genetic Studies of Substance Abuse in Iowa Adoptees
    Robert Philibert; Fiscal Year: 2007
    ....
  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. Measuring Sensitivity to Nonignorability
    Daniel Heitjan; Fiscal Year: 2003
    ..abstract_text> ..
  5. CLINICAL TRIALS AND OUTCOMES RESEARCH
    Daniel Heitjan; Fiscal Year: 2001
    ..It is anticipated, however, that the resulting methods will be applicable much more broadly. ..
  6. Examination of Genetic and GxE Effects in the Family and Community Health Studies
    Robert A Philibert; Fiscal Year: 2010
    ....