Cognitive and Behavioral Phenotypes: SNPs of Interest
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1 Cognitive and Behavioral Phenotypes: SNPs of Interest Chr Apolipoprotein E (APOE) 19 Trait Associated with the Alzheimer s Disease, Cognitive Function SNP Position 1,2,5,6,7, 11,20,23, 24,30,34,35 coded_a llele non_cod ed_allele exp_f req_c oded_ allele info certainty rs C T rs T C Brain-derived neurotrophic 11 Depression, rs6265 1,14,21,28 factor (BDNF) Memory (Val66Met) C T Catechol-Omethyltranferase (COMT) Cognitive Function (Val158Met) 22 Schizophrenia, rs G A Corticotropin releasing 17 hormone, rs G A receptor 1 (CRHR1) Personality Trait rs G T Neuroticism rs C T FK506 binding protein 5 (FKBP5) rs C A Fat mass and obesity 16 associated (FTO) Neuropeptide Y (NPY) 7 Oxytocin receptor (OXTR) 6 (chaperone of hsp90, which binds to GR) rs T C rs T C rs A G Obesity rs T A Autism, Prosocial Behavior/Social Affiliation rs T C rs (-/TG type) rs G T rs T C rs5573 (kgp G A ) rs C T rs53576 (kgp10617) A G
2 Cognitive and Behavioral Phenotypes: s of Interest with adrenergic beta-2 receptor ADRB Cognition v-akt murine thymoma viral oncogene homolog 1 AKT Cognition aldehyde dehydrogenase 5A1 ALDH5A1 (SSADH) Cognition apolipoprotein E APOE Cognition, Alzheimer s Disease 1,2,5,6,7, 11,20,23, 24,30,34, amyloid beta A4 precursor protein APP Cognition brain-derived neurotrophic factor BDNF Cognition, Depression 1,14,21, cystathionine-betasynthase CBS Cognition cholecystokinin A receptor CCKAR Cognition cholesteryl ester transfer protein, plasma CETP Cognition muscarinic 2 CHRM Cognition nicotinic, alpha 3 CHRNA nicotinic, alpha 4 CHRNA Cognition
3 with nicotinic, alpha 5 CHRNA nicotinic, alpha 6 CHRNA Smoking nicotinic, alpha 7 CHRNA Cognition nicotinic, beta 3 CHRNB Smoking nicotinic, beta 4 CHRNB nicotinic, delta CHRND catechol-omethyltranferase COMT Cognition, Schizophrenia corticotropin releasing hormone receptor 1 CRHR , Personality cathepsin D CTSD Cognition cytochrome P450, family 2, subfamily A, polypeptide 6 CYP2A Smoking cytochrome P450, family 3, subfamily A, polypeptide 4 CYP3A P450 : Drug and Xenobiotic Metabolism cytochrome P450, CYP3A P450 : Drug and
4 with family 3, subfamily A, polypeptide 5 Xenobiotic Metabolism D-amino acid oxidase activator DAOA Cognition dopamine betahydroxylase (dopamine beta-monooxygenase) DBH Cognition disrupted in schizophrenia 1 DISC Cognition 1, dopamine receptor D3 DRD Cognition dystrobrevin binding protein 1 DTNBP Cognition v-erb-a erythroblastic leukemia viral oncogene homolog 4 ERBB Cognition FK506 binding protein 5 FKBP fragile X mental retardation 1 FMR1 X Cognition fat mass and obesity associated FTO Obesity galanin GAL (GALN) GABA Recpetor major histocompatibility complex, class II, DR beta 1 HLA- DRB Cognition hydroxytryptamine (serotonin) receptor 2A, G protein-coupled HTR2A Cognition
5 with interleukin 1, beta IL1B Cognition klotho KL Cognition 1, kallikrein relatedpeptidase 8 KLK Cognition myeloperoxidase MPO Cognition homeobox, msh-like 1 MSX Cognition methylenetetrahydrofol ate reductase (NAD(P)H) MTHFR Cognition 1, nicastrin NCSTN Cognition neuropeptide Y NPY opioid receptor, mu 1 OPRM Optiod Receptor: Drug, Cognitive Functions oxytocin receptor OXTR Autism, Prosocial Behavior peroxisome proliferator-activated receptor gamma PPARG Cognition 1, protein phosphatase 1, regulatory (inhibitor) subunit 1B PPP1R1B Cognition prion protein PRNP Cognition 1, solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 SLC6A Norepinepherine Transporter: ADHD
6 with solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 SLC6A Cognition synaptosomalassociated protein, 25kDa SNAP Cognition sortilin-related receptor, L(DLR class) A repeats containing SORL Cognition tumor necrosis factor TNF Cognition Werner syndrome, RecQ helicase-like WRN Cognition WW and C2 domain containing 1 WWC1 (KIBRA) Cognition
7 Cognitive and Behavioral Phenotypes: 1. Payton, A. (2009) The Impact of tic Research on our Understanding of Normal Cognitive Ageing: Neuropsychological Review 19(4): Alexander et al. (2007) 3. Bathum,Christiansen,Jeune (2006) 4. Bochdanovits et al. (2009) 5. Bretsky et al. (2003) 6. Caselli et al. (2007) 7. Caselli, Reiman, Osborne (2004) 8. Deary et al. (2005a) 9. Deary, Harris, Fox, Hayward, Wright, Starr, Whalley (2005) 10. Deary,Whalley,St. Clair (2003) 11. Deary,Whiteman,Pattie (2004) 12. Deshmukh et al. (2009) 13. Harris, Fox, Wright, Hayward, Starr, Whalley, Deary (2007) 14. Harris,Fox,Wright, Hayward, Starr, Whalley, Deary (2006) 15. Harris,Wright, Hayward ( Hu, Bretsky, Crimmins (2006) 17. Johnson, Harris, Collins, Starr, Whalley, Deary (2007) 18. Johnson, Harris, Starr, Whalley, Deary (2008) 19. Kachiwala et al. (2005) 20. Kang, Logroscino, De Vivo (2005) 21. Li et al. (2009) 22. Luciano et al. (2009) 23. Negash et al. (2009) 24. Nilsson, Adolfsson, Backman, Cruts, Nyberg, Small, Broeckoven, Papassotiropoulos et al. (2005) 26. Payton et al. (2005) 27. Pope,Kritchevsky,Ambrosone(2006) 28. Raz, Dahle, Rodrigue, Kennedy, Land, Jacobs (2008) 29. Reynolds et al. (2007) 30. Seeman, Huang, Bretsky (2005) 31. Thomson, Harris, Starr (2005) 32. Visscher et al. (2003) 33. Wang et al. (2007) 34. Whalley et al. (2008) 35. Yaffe et al. (2000) 36. Vinkhuyzen AA, Dumenil T, Ryan L, Gordon SD, Henders AK, Madden PA, Heath AC, Montgomery GW, Martin NG, Wray NR (2011) Identification of tag haplotypes for 5HTTLPR for different genome-wide SNP platforms 7
Validated Mouse Quantitative RT-PCR Genes Gene Gene Bank Accession Number Name
5HT1a NM_008308.4 Serotonin Receptor 1a 5HT1b NM_010482.1 Serotonin Receptor 1b 5HT2a NM_172812.2 Serotonin Receptor 2a ACO-2 NM_080633.2 Aconitase 2 Adora2A NM_009630.02 Adenosine A2a Receptor Aif1 (IbaI)
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Annotation SNPEff_ Annotation SNPEff_. SNPEff_. Annotation. SNPEff_. Annotation. SNPEff_. Annotation. SNPEff_. Annotation
Chr Gene p-value Binned_ variants Phenotype Biological_Feature Note 11 DRD2 0.001179727 35 Asthma Gene 16 CES2 0.010970381 40 Asthma Gene 19 LDLR 0.023074213 43 Asthma Gene 10 ARID5B 0.025870289 44 Asthma
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