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MeSH Review

Polymorphism, Single Nucleotide

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Disease relevance of Polymorphism, Single Nucleotide


Psychiatry related information on Polymorphism, Single Nucleotide


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Chemical compound and disease context of Polymorphism, Single Nucleotide


Biological context of Polymorphism, Single Nucleotide


Anatomical context of Polymorphism, Single Nucleotide


Associations of Polymorphism, Single Nucleotide with chemical compounds


Gene context of Polymorphism, Single Nucleotide


Analytical, diagnostic and therapeutic context of Polymorphism, Single Nucleotide


  1. Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction. Ozaki, K., Ohnishi, Y., Iida, A., Sekine, A., Yamada, R., Tsunoda, T., Sato, H., Sato, H., Hori, M., Nakamura, Y., Tanaka, T. Nat. Genet. (2002) [Pubmed]
  2. Allelic variations of the multidrug resistance gene determine susceptibility and disease behavior in ulcerative colitis. Ho, G.T., Nimmo, E.R., Tenesa, A., Fennell, J., Drummond, H., Mowat, C., Arnott, I.D., Satsangi, J. Gastroenterology (2005) [Pubmed]
  3. Association between the C3435T MDR1 gene polymorphism and susceptibility for ulcerative colitis. Schwab, M., Schaeffeler, E., Marx, C., Fromm, M.F., Kaskas, B., Metzler, J., Stange, E., Herfarth, H., Schoelmerich, J., Gregor, M., Walker, S., Cascorbi, I., Roots, I., Brinkmann, U., Zanger, U.M., Eichelbaum, M. Gastroenterology (2003) [Pubmed]
  4. Identification of functional genetic variants in cyclooxygenase-2 and their association with risk of esophageal cancer. Zhang, X., Miao, X., Tan, W., Ning, B., Liu, Z., Hong, Y., Song, W., Guo, Y., Zhang, X., Shen, Y., Qiang, B., Kadlubar, F.F., Lin, D. Gastroenterology (2005) [Pubmed]
  5. A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers. Levy-Lahad, E., Lahad, A., Eisenberg, S., Dagan, E., Paperna, T., Kasinetz, L., Catane, R., Kaufman, B., Beller, U., Renbaum, P., Gershoni-Baruch, R. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  6. Single-nucleotide polymorphism in the human mu opioid receptor gene alters beta-endorphin binding and activity: possible implications for opiate addiction. Bond, C., LaForge, K.S., Tian, M., Melia, D., Zhang, S., Borg, L., Gong, J., Schluger, J., Strong, J.A., Leal, S.M., Tischfield, J.A., Kreek, M.J., Yu, L. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  7. Association of the DTNBP1 locus with schizophrenia in a U.S. population. Funke, B., Finn, C.T., Plocik, A.M., Lake, S., DeRosse, P., Kane, J.M., Kucherlapati, R., Malhotra, A.K. Am. J. Hum. Genet. (2004) [Pubmed]
  8. Sequence variants of the brain-derived neurotrophic factor (BDNF) gene are strongly associated with obsessive-compulsive disorder. Hall, D., Dhilla, A., Charalambous, A., Gogos, J.A., Karayiorgou, M. Am. J. Hum. Genet. (2003) [Pubmed]
  9. Association between two {micro}-opioid receptor gene (OPRM1) haplotype blocks and drug or alcohol dependence. Zhang, H., Luo, X., Kranzler, H.R., Lappalainen, J., Yang, B.Z., Krupitsky, E., Zvartau, E., Gelernter, J. Hum. Mol. Genet. (2006) [Pubmed]
  10. Evidence of common and specific genetic effects: association of the muscarinic acetylcholine receptor M2 (CHRM2) gene with alcohol dependence and major depressive syndrome. Wang, J.C., Hinrichs, A.L., Stock, H., Budde, J., Allen, R., Bertelsen, S., Kwon, J.M., Wu, W., Dick, D.M., Rice, J., Jones, K., Nurnberger, J.I., Tischfield, J., Porjesz, B., Edenberg, H.J., Hesselbrock, V., Crowe, R., Schuckit, M., Begleiter, H., Reich, T., Goate, A.M., Bierut, L.J. Hum. Mol. Genet. (2004) [Pubmed]
  11. Conserved noncoding sequences are selectively constrained and not mutation cold spots. Drake, J.A., Bird, C., Nemesh, J., Thomas, D.J., Newton-Cheh, C., Reymond, A., Excoffier, L., Attar, H., Antonarakis, S.E., Dermitzakis, E.T., Hirschhorn, J.N. Nat. Genet. (2006) [Pubmed]
  12. Genetic variation in selenoprotein S influences inflammatory response. Curran, J.E., Jowett, J.B., Elliott, K.S., Gao, Y., Gluschenko, K., Wang, J., Abel Azim, D.M., Cai, G., Mahaney, M.C., Comuzzie, A.G., Dyer, T.D., Walder, K.R., Zimmet, P., MacCluer, J.W., Collier, G.R., Kissebah, A.H., Blangero, J. Nat. Genet. (2005) [Pubmed]
  13. A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans. Bond, G.L., Hu, W., Bond, E.E., Robins, H., Lutzker, S.G., Arva, N.C., Bargonetti, J., Bartel, F., Taubert, H., Wuerl, P., Onel, K., Yip, L., Hwang, S.J., Strong, L.C., Lozano, G., Levine, A.J. Cell (2004) [Pubmed]
  14. Allele-specific repression of lymphotoxin-alpha by activated B cell factor-1. Knight, J.C., Keating, B.J., Kwiatkowski, D.P. Nat. Genet. (2004) [Pubmed]
  15. Polymorphisms in FKBP5 are associated with increased recurrence of depressive episodes and rapid response to antidepressant treatment. Binder, E.B., Salyakina, D., Lichtner, P., Wochnik, G.M., Ising, M., Pütz, B., Papiol, S., Seaman, S., Lucae, S., Kohli, M.A., Nickel, T., Künzel, H.E., Fuchs, B., Majer, M., Pfennig, A., Kern, N., Brunner, J., Modell, S., Baghai, T., Deiml, T., Zill, P., Bondy, B., Rupprecht, R., Messer, T., Köhnlein, O., Dabitz, H., Brückl, T., Müller, N., Pfister, H., Lieb, R., Mueller, J.C., Lõhmussaar, E., Strom, T.M., Bettecken, T., Meitinger, T., Uhr, M., Rein, T., Holsboer, F., Muller-Myhsok, B. Nat. Genet. (2004) [Pubmed]
  16. A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson's disease. Morino, H., Kawarai, T., Izumi, Y., Kazuta, T., Oda, M., Komure, O., Udaka, F., Kameyama, M., Nakamura, S., Kawakami, H. Ann. Neurol. (2000) [Pubmed]
  17. Profiling genetic variation along the androgen biosynthesis and metabolism pathways implicates several single nucleotide polymorphisms and their combinations as prostate cancer risk factors. Mononen, N., Seppälä, E.H., Duggal, P., Autio, V., Ikonen, T., Ellonen, P., Saharinen, J., Saarela, J., Vihinen, M., Tammela, T.L., Kallioniemi, O., Bailey-Wilson, J.E., Schleutker, J. Cancer Res. (2006) [Pubmed]
  18. Androgen receptor cytosine, adenine, guanine repeats, and haplotypes in relation to ovarian cancer risk. Terry, K.L., De Vivo, I., Titus-Ernstoff, L., Shih, M.C., Cramer, D.W. Cancer Res. (2005) [Pubmed]
  19. A polymorphism in thrombospondin-1 associated with familial premature coronary heart disease causes a local change in conformation of the Ca2+-binding repeats. Hannah, B.L., Misenheimer, T.M., Annis, D.S., Mosher, D.F. J. Biol. Chem. (2003) [Pubmed]
  20. A functional variant in the peroxisome proliferator-activated receptor gamma2 promoter is associated with predictors of obesity and type 2 diabetes in Pima Indians. Muller, Y.L., Bogardus, C., Beamer, B.A., Shuldiner, A.R., Baier, L.J. Diabetes (2003) [Pubmed]
  21. Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression. Kuehl, P., Zhang, J., Lin, Y., Lamba, J., Assem, M., Schuetz, J., Watkins, P.B., Daly, A., Wrighton, S.A., Hall, S.D., Maurel, P., Relling, M., Brimer, C., Yasuda, K., Venkataramanan, R., Strom, S., Thummel, K., Boguski, M.S., Schuetz, E. Nat. Genet. (2001) [Pubmed]
  22. Dichotomy of single-nucleotide polymorphism haplotypes in olfactory receptor genes and pseudogenes. Gilad, Y., Segré, D., Skorecki, K., Nachman, M.W., Lancet, D., Sharon, D. Nat. Genet. (2000) [Pubmed]
  23. Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis. Sozen, M., Whittall, R., Humphries, S.E. Atherosclerosis. Supplements. (2004) [Pubmed]
  24. Eotaxin-3 and a uniquely conserved gene-expression profile in eosinophilic esophagitis. Blanchard, C., Wang, N., Stringer, K.F., Mishra, A., Fulkerson, P.C., Abonia, J.P., Jameson, S.C., Kirby, C., Konikoff, M.R., Collins, M.H., Cohen, M.B., Akers, R., Hogan, S.P., Assa'ad, A.H., Putnam, P.E., Aronow, B.J., Rothenberg, M.E. J. Clin. Invest. (2006) [Pubmed]
  25. Human sex hormone-binding globulin variants associated with hyperandrogenism and ovarian dysfunction. Hogeveen, K.N., Cousin, P., Pugeat, M., Dewailly, D., Soudan, B., Hammond, G.L. J. Clin. Invest. (2002) [Pubmed]
  26. WWOX: a candidate tumor suppressor gene involved in multiple tumor types. Paige, A.J., Taylor, K.J., Taylor, C., Hillier, S.G., Farrington, S., Scott, D., Porteous, D.J., Smyth, J.F., Gabra, H., Watson, J.E. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  27. Functional analysis of genetic variation in catechol-O-methyltransferase (COMT): effects on mRNA, protein, and enzyme activity in postmortem human brain. Chen, J., Lipska, B.K., Halim, N., Ma, Q.D., Matsumoto, M., Melhem, S., Kolachana, B.S., Hyde, T.M., Herman, M.M., Apud, J., Egan, M.F., Kleinman, J.E., Weinberger, D.R. Am. J. Hum. Genet. (2004) [Pubmed]
  28. Both donor and recipient NOD2/CARD15 mutations associate with transplant-related mortality and GvHD following allogeneic stem cell transplantation. Holler, E., Rogler, G., Herfarth, H., Brenmoehl, J., Wild, P.J., Hahn, J., Eissner, G., Schölmerich, J., Andreesen, R. Blood (2004) [Pubmed]
  29. Interleukin-6 -174G-->C polymorphism is associated with improved outcome in high-risk breast cancer. DeMichele, A., Martin, A.M., Mick, R., Gor, P., Wray, L., Klein-Cabral, M., Athanasiadis, G., Colligan, T., Stadtmauer, E., Weber, B. Cancer Res. (2003) [Pubmed]
  30. Polymorphisms in RET and its coreceptors and ligands as genetic modifiers of multiple endocrine neoplasia type 2A. Lesueur, F., Cebrian, A., Robledo, M., Niccoli-Sire, P., Svensson, K.A., Pinson, S., Leyland, J., Whittaker, J., Pharoah, P.D., Ponder, B.A. Cancer Res. (2006) [Pubmed]
  31. An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing. Pennacchio, L.A., Olivier, M., Hubacek, J.A., Cohen, J.C., Cox, D.R., Fruchart, J.C., Krauss, R.M., Rubin, E.M. Science (2001) [Pubmed]
  32. C-reactive protein binding to FcgammaRIIa on human monocytes and neutrophils is allele-specific. Stein, M.P., Edberg, J.C., Kimberly, R.P., Mangan, E.K., Bharadwaj, D., Mold, C., Du Clos, T.W. J. Clin. Invest. (2000) [Pubmed]
  33. Loss-of-function mutation in tryptophan hydroxylase-2 identified in unipolar major depression. Zhang, X., Gainetdinov, R.R., Beaulieu, J.M., Sotnikova, T.D., Burch, L.H., Williams, R.B., Schwartz, D.A., Krishnan, K.R., Caron, M.G. Neuron (2005) [Pubmed]
  34. Polymorphisms of the 5' leader cistron of the human beta2-adrenergic receptor regulate receptor expression. McGraw, D.W., Forbes, S.L., Kramer, L.A., Liggett, S.B. J. Clin. Invest. (1998) [Pubmed]
  35. Scanning of guanine-guanine mismatches in DNA by synthetic ligands using surface plasmon resonance. Nakatani, K., Sando, S., Saito, I. Nat. Biotechnol. (2001) [Pubmed]
  36. CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure. Vermeire, S., Wild, G., Kocher, K., Cousineau, J., Dufresne, L., Bitton, A., Langelier, D., Pare, P., Lapointe, G., Cohen, A., Daly, M.J., Rioux, J.D. Am. J. Hum. Genet. (2002) [Pubmed]
  37. Gene-gene interaction in asthma: IL4RA and IL13 in a Dutch population with asthma. Howard, T.D., Koppelman, G.H., Xu, J., Zheng, S.L., Postma, D.S., Meyers, D.A., Bleecker, E.R. Am. J. Hum. Genet. (2002) [Pubmed]
  38. PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis. Carlton, V.E., Hu, X., Chokkalingam, A.P., Schrodi, S.J., Brandon, R., Alexander, H.C., Chang, M., Catanese, J.J., Leong, D.U., Ardlie, K.G., Kastner, D.L., Seldin, M.F., Criswell, L.A., Gregersen, P.K., Beasley, E., Thomson, G., Amos, C.I., Begovich, A.B. Am. J. Hum. Genet. (2005) [Pubmed]
  39. A common haplotype of the nicotine acetylcholine receptor alpha 4 subunit gene is associated with vulnerability to nicotine addiction in men. Feng, Y., Niu, T., Xing, H., Xu, X., Chen, C., Peng, S., Wang, L., Laird, N., Xu, X. Am. J. Hum. Genet. (2004) [Pubmed]
  40. The pregnane X receptor locus is associated with susceptibility to inflammatory bowel disease. Dring, M.M., Goulding, C.A., Trimble, V.I., Keegan, D., Ryan, A.W., Brophy, K.M., Smyth, C.M., Keeling, P.W., O'Donoghue, D., O'Sullivan, M., O'Morain, C., Mahmud, N., Wikström, A.C., Kelleher, D., McManus, R. Gastroenterology (2006) [Pubmed]
  41. The interleukin 1 receptor antagonist gene allele 2 as a predictor of pouchitis following colectomy and IPAA in ulcerative colitis. Carter, M.J., Di Giovine, F.S., Cox, A., Goodfellow, P., Jones, S., Shorthouse, A.J., Duff, G.W., Lobo, A.J. Gastroenterology (2001) [Pubmed]
  42. alpha-Synuclein maps to a quantitative trait locus for alcohol preference and is differentially expressed in alcohol-preferring and -nonpreferring rats. Liang, T., Spence, J., Liu, L., Strother, W.N., Chang, H.W., Ellison, J.A., Lumeng, L., Li, T.K., Foroud, T., Carr, L.G. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  43. Polymorphisms within the C-reactive protein (CRP) promoter region are associated with plasma CRP levels. Carlson, C.S., Aldred, S.F., Lee, P.K., Tracy, R.P., Schwartz, S.M., Rieder, M., Liu, K., Williams, O.D., Iribarren, C., Lewis, E.C., Fornage, M., Boerwinkle, E., Gross, M., Jaquish, C., Nickerson, D.A., Myers, R.M., Siscovick, D.S., Reiner, A.P. Am. J. Hum. Genet. (2005) [Pubmed]
  44. Selection and evaluation of tagging SNPs in the neuronal-sodium-channel gene SCN1A: implications for linkage-disequilibrium gene mapping. Weale, M.E., Depondt, C., Macdonald, S.J., Smith, A., Lai, P.S., Shorvon, S.D., Wood, N.W., Goldstein, D.B. Am. J. Hum. Genet. (2003) [Pubmed]
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