What is a functional genetic polymorphism? Defining classes of functionality

Journal of Psychiatry and Neuroscience

Volumn 36, Issue 6, 2011, Pages 363-365

  Albert, Paul R ^a  

^a OTTAWA HOSPITAL RESEARCH INSTITUTE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CLASSIFICATION; EDITORIAL; FUNCTIONAL GENOMICS; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; MENTAL HEALTH; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 80054806212     PISSN: 11804882     EISSN: 14882434     Source Type: Journal    
DOI: 10.1503/jpn.110137     Document Type: Editorial

References (22)

1. Frazer KA, Ballinger DG, Cox DR, et al.; International HapMap Consortium. A second generation human haplotype map of over 3.1 million SNPs. Nature 2007;449:851-61.
2. Karg K, Burmeister M, Shedden K, et al. title typecontributorThe serotonin transporter promoter variant (5-HTTLPR), stress, and depression metaanalysis revisited: evidence of genetic moderation/title. Arch Gen Psychiatry 2011; 68:444-54.
3. Chorley BN, Wang X, Campbell MR, et al. Discovery and verification of functional single nucleotide polymorphisms in regulatory genomic regions: current and developing technologies. Mutat Res 2008; 659:147-57.
4. Sadee W, Wang D, Papp AC, et al. Pharmacogenomics of the RNA world: structural RNA polymorphisms in drug therapy. Clin Pharmacol Ther 2011;89:355-65.
5. Liao P-Y, Lee KH. From SNPs to functional polymorphism: the insight into biotechnology applications. Biochem Eng J 2010;49:149-58.
6. Zhang Y, Bertolino A, Fazio L, et al. Polymorphisms in human dopamine D2 receptor gene affect gene expression, splicing, and neuronal activity during working memory. Proc Natl Acad Sci U S A 2007;104:20552-7.
7. Bertolino A, Fazio L, Caforio G, et al. Functional variants of the dopamine receptor D2 gene modulate prefronto-striatal phenotypes in schizophrenia. Brain 2009;132:417-25.
8. Moyer RA, Wang D, Papp AC, et al. Intronic polymorphisms affecting alternative splicing of human dopamine D2 receptor are associated with cocaine abuse. Neuropsychopharmacology 2011;36:753-62.
9. Drysdale CM, McGraw DW, Stack CB, et al. Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness. Proc Natl Acad Sci U S A 2000;97:10483-8.
10. Blakely RD. Overview: a rare opportunity or just one less reason to be depressed. Neuron 2005;48:701-2, author reply 705-6.
11. Zhang X, Gainetdinov RR, Beaulieu JM, et al. Loss-of-function mutation in tryptophan hydroxylase-2 identified in unipolar major depression. Neuron 2005;45:11-6.
12. Hoogendoorn B, Coleman SL, Guy CA, et al. Functional analysis of human promoter polymorphisms. Hum Mol Genet 2003;12:2249-54.
13. Buckland PR, Hoogendoorn B, Guy CA, et al. A high proportion of polymorphisms in the promoters of brain expressed genes influences transcriptional activity. Biochim Biophys Acta 2004;1690:238-49.
14. Green EK, Norton N, Peirce T, et al. Evidence that a Drosoph Inf ServC1 frame-shift deletion associated with psychosis in a single family may not be a pathogenic mutation. Mol Psychiatry 2006; 11: 798-9.
15. Remes-Lenicov F, Jacobsen KX, Rogaeva A, et al. Identification of novel transcriptional regulators in the nervous system. In: Chattopadhyay A, editor. Serotonin receptors in neurobiology. Boca Raton (FL): CRC Press; 2007. p. 81-103.
16. Lesch KP, Bengel D, Heils A, et al. Association of anxiety-related traits with a polymorphism in the serotonin transporter gene regulatory region. Science 1996;274:1527-31.
17. Parsey RV, Ogden RT, Miller JM, et al. Higher serotonin 1A binding in a second major depression cohort: modeling and reference region considerations. Biol Psychiatry 2010;68:170-8.
18. Rogaeva A, Ou XM, Jafar-Nejad H, et al. Differential repression by Freud-1/CC2D1A at a polymorphic site in the dopamine-D2 receptor gene. J Biol Chem 2007;282:20897-905.
19. Chen ZY, Jing D, Bath KG, et al. Genetic variant BDNF (Val66Met) polymorphism alters anxiety-related behavior. Science 2006; 314: 140-3.
20. Chiaruttini C, Vicario A, Li Z, et al. Dendritic trafficking of BDNF mRNA is mediated by translin and blocked by the G196A (Val66Met) mutation. Proc Natl Acad Sci U S A 2009;106:16481-6.
21. Collins AL, Kim Y, Sklar P, et al. Hypothesis-driven candidate genes for schizophrenia compared to genome-wide association results. Psychol Med 2011 Aug. 19:1-10. [Epub ahead of print]
22. Macintyre G, Bailey J, Haviv I, et al. is-rSNP: a novel technique for in silico regulatory SNP detection. Bioinformatics 2010;26:i524-30.