Tandem repeat polymorphisms: modulators of disease susceptibility and candidates for ‘missing heritability’

Fondon, 2008, Simple sequence repeats: genetic modulators of brain function and behavior, Trends Neurosci., 31, 328, 10.1016/j.tins.2008.03.006

Usdin, 2008, The biological effects of simple tandem repeats: lessons from the repeat expansion diseases, Genome Res., 18, 1011, 10.1101/gr.070409.107

Kashi, 2006, Simple sequence repeats as advantageous mutators in evolution, Trends Genet., 22, 253, 10.1016/j.tig.2006.03.005

Sutherland, 1998, Fragile sites still breaking, Trends Genet., 14, 501, 10.1016/S0168-9525(98)01628-X

Nithianantharajah, 2007, Dynamic mutations as digital genetic modulators of brain development, function and dysfunction, BioEssays, 29, 525, 10.1002/bies.20589

Coffey, 2008, Expanded clinical phenotype of women with the FMR1 premutation, Am. J. Med. Genet. A, 146A, 1009, 10.1002/ajmg.a.32060

Bourgeois, 2009, A review of fragile X premutation disorders: expanding the psychiatric perspective, J. Clin. Psychiatry, 70, 852, 10.4088/JCP.08r04476

International Human Genome Sequencing Consortium, 2001, Initial sequencing and analysis of the human genome, Nature, 409, 860, 10.1038/35057062

Kashi, 1997, Simple sequence repeats as a source of quantitative genetic variation, Trends Genet., 13, 74, 10.1016/S0168-9525(97)01008-1

Vinces, 2009, Unstable tandem repeats in promoters confer transcriptional evolvability, Science, 324, 1213, 10.1126/science.1170097

Fondon, 2004, Molecular origins of rapid and continuous morphological evolution, Proc. Natl Acad. Sci. U. S. A., 101, 18058, 10.1073/pnas.0408118101

Hammock, 2005, Microsatellite instability generates diversity in brain and sociobehavioral traits, Science, 308, 1630, 10.1126/science.1111427

Benjamin, 1996, Population and familial association between the D4 dopamine receptor gene and measures of novelty seeking, Nat. Genet., 12, 81, 10.1038/ng0196-81

Ebstein, 1996, Dopamine D4 receptor (D4DR) exon III polymorphism associated with the human personality trait of novelty seeking, Nat. Genet., 12, 78, 10.1038/ng0196-78

Lesch, 1996, Association of anxiety-related traits with a polymorphism in the serotonin transporter gene regulatory region, Science, 274, 1527, 10.1126/science.274.5292.1527

Comings, 1998, Polygenic inheritance and micro/minisatellites, Mol. Psychiatry, 3, 21, 10.1038/sj.mp.4000289

Cornish, 2005, Association of the dopamine transporter (DAT1) 10/10-repeat genotype with ADHD symptoms and response inhibition in a general population sample, Mol. Psychiatry, 10, 686, 10.1038/sj.mp.4001641

de Quervain, 2007, A deletion variant of the α2b-adrenoceptor is related to emotional memory in Europeans and Africans, Nat. Neurosci., 10, 1137, 10.1038/nn1945

Prichard, 2007, Association analysis of 15 polymorphisms within 10 candidate genes for antisocial behavioural traits, Psychiatr. Genet., 17, 299, 10.1097/YPG.0b013e32816ebc9e

Prichard, 2007, AVPR1A and OXTR polymorphisms are associated with sexual and reproductive behavioral phenotypes in humans. Mutation in brief no. 981. Online, Hum. Mutat., 28, 1150, 10.1002/humu.9510

Riley, 2009, Embryonic nervous system genes predominate in searches for dinucleotide simple sequence repeats flanked by conserved sequences, Gene, 429, 74, 10.1016/j.gene.2008.09.025

Munafò, 2008, Association of the dopamine D4 receptor (DRD4) gene and approach-related personality traits: meta-analysis and new data, Biol. Psychiatry, 63, 197, 10.1016/j.biopsych.2007.04.006

Munafò, 2009, 5-HTTLPR genotype and anxiety-related personality traits: a meta-analysis and new data, Am. J. Med. Genet. B Neuropsychiatr. Genet., 150B, 271, 10.1002/ajmg.b.30808

Manolio, 2009, Finding the missing heritability of complex diseases, Nature, 461, 747, 10.1038/nature08494

Madsen, 2008, Short tandem repeats in human exons: a target for disease mutations, BMC Genomics, 9, 410, 10.1186/1471-2164-9-410

Bacolla, 2008, Abundance and length of simple repeats in vertebrate genomes are determined by their structural properties, Genome Res., 18, 1545, 10.1101/gr.078303.108

Ogilvie, 1996, Polymorphism in serotonin transporter gene associated with susceptibility to major depression, Lancet, 347, 731, 10.1016/S0140-6736(96)90079-3

Schulze, 2000, Association between a functional polymorphism in the monoamine oxidase A gene promoter and major depressive disorder, Am. J. Med. Genet., 96, 801, 10.1002/1096-8628(20001204)96:6<801::AID-AJMG21>3.0.CO;2-4

Kishida, 2007, Monoamine metabolites level in CSF is related to the 5-HTT gene polymorphism in treatment-resistant depression, Neuropsychopharmacology, 32, 2143, 10.1038/sj.npp.1301336

Wray, 2009, Accurate, large-scale genotyping of 5HTTLPR and flanking single nucleotide polymorphisms in an association study of depression, anxiety, and personality measures, Biol. Psychiatry, 66, 468, 10.1016/j.biopsych.2009.04.030

Rees, 1997, Association studies of bipolar disorder at the human serotonin transporter gene (hSERT; 5HTT), Mol. Psychiatry, 2, 398, 10.1038/sj.mp.4000256

Neves-Pereira, 2002, The brain-derived neurotrophic factor gene confers susceptibility to bipolar disorder: evidence from a family-based association study, Am. J. Hum. Genet., 71, 651, 10.1086/342288

Lasky-Su, 2005, Meta-analysis of the association between two polymorphisms in the serotonin transporter gene and affective disorders, Am. J. Med. Genet. B Neuropsychiatr. Genet., 133B, 110, 10.1002/ajmg.b.30104

Benedetti, 2008, A length polymorphism in the circadian clock gene Per3 influences age at onset of bipolar disorder, Neurosci. Lett., 445, 184, 10.1016/j.neulet.2008.09.002

Krebs, 2000, Brain derived neurotrophic factor (BDNF) gene variants association with age at onset and therapeutic response in schizophrenia, Mol. Psychiatry, 5, 558, 10.1038/sj.mp.4000749

Reif, 2006, A neuronal nitric oxide synthase (NOS-I) haplotype associated with schizophrenia modifies prefrontal cortex function, Mol. Psychiatry, 11, 286, 10.1038/sj.mp.4001779

Passos Gregorio, 2006, Analysis of coding-polymorphisms in NOTCH-related genes reveals NUMBL poly-glutamine repeat to be associated with schizophrenia in Brazilian and Danish subjects, Schizophr. Res., 88, 275, 10.1016/j.schres.2006.06.036

Pedrosa, 2007, Positive association of schizophrenia to JARID2 gene, Am. J. Med. Genet. B Neuropsychiatr. Genet., 144B, 45, 10.1002/ajmg.b.30386

Gysin, 2007, Impaired glutathione synthesis in schizophrenia: convergent genetic and functional evidence, Proc. Natl Acad. Sci. U. S. A., 104, 16621, 10.1073/pnas.0706778104

Ohi, 2009, TATA box-binding protein gene is associated with risk for schizophrenia, age at onset and prefrontal function, Genes Brain Behav., 8, 473, 10.1111/j.1601-183X.2009.00497.x

Franke, 2008, Association of the dopamine transporter (SLC6A3/DAT1) gene 9-6 haplotype with adult ADHD, Am. J. Med. Genet. B Neuropsychiatr. Genet., 147B, 1576, 10.1002/ajmg.b.30861

Johnson, 2008, Absence of the 7-repeat variant of the DRD4 VNTR is associated with drifting sustained attention in children with ADHD but not in controls, Am. J. Med. Genet. B Neuropsychiatr. Genet., 147B, 927, 10.1002/ajmg.b.30718

Lehmann, 2003, Association of the androgen receptor CAG repeat polymorphism with Alzheimer's disease in men, Neurosci. Lett., 340, 87, 10.1016/S0304-3940(03)00069-7

Hill, 2007, Differential enrichment of simple sequence repeats in selected Alzheimer-associated genes, Cell Mol. Biol. (Noisy-le-grand), 53, 23

Pritchard, 2007, Role of serotonin transporter polymorphisms in the behavioural and psychological symptoms in probable Alzheimer disease patients, Dement. Geriatr. Cogn. Disord., 24, 201, 10.1159/000107081

Ueki, 2007, Serotonin transporter gene polymorphism and BPSD in mild Alzheimer's disease, J. Alzheimers Dis., 12, 245, 10.3233/JAD-2007-12306

Galimberti, 2008, Association of a NOS1 promoter repeat with Alzheimer's disease, Neurobiol. Aging, 29, 1359, 10.1016/j.neurobiolaging.2007.03.003

Lieberman, 2008, The androgen receptor's CAG/glutamine tract in mouse models of neurological disease and cancer, J. Alzheimers Dis., 14, 247, 10.3233/JAD-2008-14212

Cervera, 2007, The BC genotype of the VNTR polymorphism of platelet glycoprotein Ibalpha is overrepresented in patients with recurrent stroke regardless of aspirin therapy, Cerebrovasc. Dis., 24, 242, 10.1159/000104485

Worrall, 2007, IL1RN VNTR polymorphism in ischemic stroke: analysis in 3 populations, Stroke, 38, 1189, 10.1161/01.STR.0000260099.42744.b0

Worrall, 2003, Interleukin-1 receptor antagonist gene polymorphisms in carotid atherosclerosis, Stroke, 34, 790, 10.1161/01.STR.0000057815.79289.EC

Kamstrup, 2008, Pentanucleotide repeat polymorphism, lipoprotein(a) levels, and risk of ischemic heart disease, J. Clin. Endocrinol. Metab., 93, 3769, 10.1210/jc.2008-0830

Hiromine, 2007, Trinucleotide repeats of programmed cell death-1 gene are associated with susceptibility to type 1 diabetes mellitus, Metabolism, 56, 905, 10.1016/j.metabol.2007.01.021

Galanakis, 2008, Intron 4 a/b polymorphism of the endothelial nitric oxide synthase gene is associated with both type 1 and type 2 diabetes in a genetically homogeneous population, Hum. Immunol., 69, 279, 10.1016/j.humimm.2008.03.001

Laken, 1997, Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC, Nat. Genet., 17, 79, 10.1038/ng0997-79

McIntyre, 2007, Prostate cancer risk and ESR1 TA, ESR2 CA repeat polymorphisms, Cancer Epidemiol. Biomarkers Prev., 16, 2233, 10.1158/1055-9965.EPI-07-0481

Schildkraut, 2007, Trinucleotide repeat polymorphisms in the androgen receptor gene and risk of ovarian cancer, Cancer Epidemiol. Biomarkers Prev., 16, 473, 10.1158/1055-9965.EPI-06-0868

Haberman, 2008, Trinucleotide repeats are prevalent among cancer-related genes, Trends Genet., 24, 14, 10.1016/j.tig.2007.09.005

Verstrepen, 2005, Intragenic tandem repeats generate functional variability, Nat. Genet., 37, 986, 10.1038/ng1618

Faux, 2005, Functional insights from the distribution and role of homopeptide repeat-containing proteins, Genome Res., 15, 537, 10.1101/gr.3096505

van Den Hurk, 2001, Novel frameshift mutations near short simple repeats, J Biol. Chem., 276, 11496, 10.1074/jbc.M011040200

Krol, 2007, Ribonuclease dicer cleaves triplet repeat hairpins into shorter repeats that silence specific targets, Mol. Cell, 25, 575, 10.1016/j.molcel.2007.01.031

Mattick, 2009, RNA regulation of epigenetic processes, BioEssays, 31, 51, 10.1002/bies.080099

Dion, 2009, Instability and chromatin structure of expanded trinucleotide repeats, Trends Genet., 25, 288, 10.1016/j.tig.2009.04.007

Gonitel, 2008, DNA instability in postmitotic neurons, Proc. Natl Acad. Sci. U. S. A., 105, 3467, 10.1073/pnas.0800048105

Johnson, 2009, An open access database of genome-wide association results, BMC Med. Genet., 10, 6, 10.1186/1471-2350-10-6

Tabor, 2002, Candidate-gene approaches for studying complex genetic traits: practical considerations, Nat. Rev. Genet., 3, 391, 10.1038/nrg796

O’Dushlaine, 2008, Marked variation in predicted and observed variability of tandem repeat loci across the human genome, BMC Genomics, 9, 175, 10.1186/1471-2164-9-175

Molla, 2009, Triplet repeat length bias and variation in the human transcriptome, Proc. Natl Acad. Sci. U. S. A., 106, 17095, 10.1073/pnas.0907112106

Subramanian, 2003, Genome-wide analysis of microsatellite repeats in humans: their abundance and density in specific genomic regions, Genome Biol., 4, R13, 10.1186/gb-2003-4-2-r13

Salichs, E. et al. (2008) Genome-wide analysis of histidine repeats reveals their role in the localization of human proteins to the nuclear speckles compartment. PloS Genet. 5, e1000397. doi:10.1371/journal.pgen.1000397 (www.plosgenetics.org)

Conrad, D.F. et al. (2009) Origins and functional impact of copy number variation in the human genome. Naturedoi:10.1038/nature08516 (www.nature.com), Epub ahead of print, doi:10.1038/nature08516z

Zhang, 2009, Complex human chromosomal and genomic rearrangements, Trends Genet., 25, 298, 10.1016/j.tig.2009.05.005

Bruce, 2009, Long tandem repeats as a form of genomic copy number variation: structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populations, Psychiatr. Genet., 19, 64, 10.1097/YPG.0b013e3283207ff6

Armour, 2006, Tandemly repeated DNA: why should anyone care?, Mutat. Res., 598, 6, 10.1016/j.mrfmmm.2006.01.013

Bodmer, 2008, Common and rare variants in multifactorial susceptibility to common diseases, Nat. Genet., 40, 695, 10.1038/ng.f.136