DNA pooling as a tool for large‐scale association studies in complex traits

References

• Risch N, Merikangas K. The Future of Genetic Studies of Complex Human Diseases. Science 1996;273:1516–17.
   PubMed Web of Science ®Google Scholar
• O'Donovan MC, Owen MJ. Candidate-Gene Association Studies of Schizophrenia. Am J Hum Genet 1999;65:587–92.
   PubMed Web of Science ®Google Scholar
• Pacek P, Sajantila A, Syvanen AC. Determination of allele frequencies at loci with length polymorphism by quantitative analysis of DNA amplified from pooled samples. PCR Methods Appl 1993;2:313–17.
   Google Scholar
• Barcellos LF, Klitz W, Field LL, Tobias R, Bowcock AM, Wilson R, et al. Association Mapping of Disease Loci, by Use of a Pooled DNA Genomic Screen. Am J Hum Genet 1997;61: 734–47.
   PubMed Web of Science ®Google Scholar
• Daniels J, Holmans P, Williams N, Turic D, McGuffin P, Plomin R, et al. A Simple Method for Analyzing Micro-satellite Allele Image Patterns Generated From DNA Pools and its Application to Allelic Association Studies. Am J Hum Genet 1998;62:1189–97.
   PubMed Web of Science ®Google Scholar
• Shaw SH, Carrasquillo MM, Kashuk C, Puffenberger EG, Chakravarti A. Allele Frequency Distributions in Pooled DNA Samples: Applications to Mapping Complex Disease Genes. Genome Res 1998;8:111–23.
   Google Scholar
• Kirov G, Williams N, Sham P, Craddock N, Owen MJ. Pooled Genotyping of Microsatellite Markers in Parent-Offspring Trios. Genome Res 2000;10:105–15.
   Google Scholar
• Sham P, Bader JS, Craig I, O'Donovan MC, Owen MJ. DNA pooling: a tool for large scale association studies. Nat Rev Genet 2002;3:862–71.
   Google Scholar
• Carlson CS, Eberle MA, Rieder MJ, Smith JD, Kruglyak L, Nickerson DA. Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans. Nat Genet 2003;33:518–21.
   PubMed Web of Science ®Google Scholar
• Norton N, Williams NM, Williams HJ, Spurlock G, Kirov G, Morris DW, et al. Universal, Robust, Highly Quantitative Snp Allele Frequency Measurement in DNA Pools. Hum Genet 2002;110:471–78.
   PubMed Web of Science ®Google Scholar
• Shifman S, Bronstein M, Sternfeld M, Pisante-Shalom A, Lev-Lehman E, Weizman A, et al. A Highly Significant Association between a COMT Haplotype and Schizophrenia. Am J Hum Genet 2002;71:1296–302.
   Google Scholar
• Barratt BJ, Payne F, Rance 1-1E, Nutland S, Todd JA, Clayton DG. Identification of the Sources of Error in Allele Frequency Estimations From Pooled DNA Indicates an Optimal Experi-mental Design. Ann Hum Genet 2002;66:393–405.
   Google Scholar
• Hoogendoorn B, Norton N, Kirov G, Williams N, Hamshere ML, Spurlock G, et al. Cheap, accurate and rapid allele frequency estimation of single nucleotide polymorphisms by primer extension and DHPLC in DNA pools. Hum Genet 2000;107:488–93.
   PubMed Web of Science ®Google Scholar
• Le Hellard S, Ballereau SJ, Visscher PM, Torrance HS, Pinson J, Morris SW, et al. SNP Genotyping on Pooled DNAs. Comparison of Genotyping Technologies and a Semi Auto-mated Method for Data Storage and Analysis. Nucleic Acids Res 2002;30:art. no. e74.
   Google Scholar
• Williams NM, Bowen T, Spurlock G, Norton N, Williams HJ, Hoogendoorn B, et al. Determination of the Genomic Structure and Mutation Screening in Schizophrenic Indivi-duals for Five Subunits of the N-Methyl- D-Aspartate Glutamate Receptor. Mol Psychiatr 2002;7:508–14.
   PubMed Web of Science ®Google Scholar
• Williams NM, Spurlock G, Norton N, Williams HJ, Hamshere ML, Krawczak M, et al. Mutation screening and LD mapping in the VCFS deleted region of chromosome 22q11 in schizophrenia using a novel DNA pooling approach. Mol Psychiatr 2002;7:1092–100.
   PubMed Web of Science ®Google Scholar
• Norton N, Williams HJ, Williams NM, Spurlock G, Zammit S, Jones G, et al. Mutation screening of the Homer gene family and association analysis in schizophrenia. Am J Med Genet 2003;120B:18–21.
   PubMed Web of Science ®Google Scholar
• Bray NJ, Buckland PR, Hall H, Owen MJ, O'Donovan MC. The serotonin-2A receptor gene locus does not contain common polymorphism or epigenetic variation affecting expression in adult brain. Mol Psychiatr (in press).
   Google Scholar
• Murphy KC, Jones LA, Owen MJ. High Rates of Schizo-phrenia in Adults with Velo-Cardio-Facial Syndrome. Arch Gen Psychiat 1999;56:91015.
   Google Scholar
• Tsien JZ, Huerta PT, Tonegawa S. The essential role of hippocampal CA1 NMDA receptor-dependent synaptic plas-ticity in spatial memory. Cell 1996;87: 1327–38.
   Google Scholar
• Mohn AR, Gainetdinov RR, Caron MG, Koller BH. Mice With Reduced NMDA Receptor Expression Display Beha-viors Related to Schizophrenia. Cell 1999;98:427–36.
   PubMed Web of Science ®Google Scholar
• Cull-Candy S, Brickley S, Farrant M. NMDA Receptor Subunits. Diversity, Development and Disease. Curr Opin Neurobiol 2001;11:327–35.
   PubMed Web of Science ®Google Scholar
• Turic D, Langley K, Mills S, Stephens M, Lawson D, Govan C, et al. Follow-up of genetic linkage findings on chromosome 16p13: evidence of association of N-methyl-D Aspartate Psychiatr (in press).
   Google Scholar
• Martin ER, Lai EH, Gilbert JR, Rogala AR, Afshari AJ, Riley L, et al. SNPing Away at Complex Diseases: Analysis of Single-Nucleotide Polymorphisms Around Apoe in Alzheimer
   Google Scholar
• Pfeiffer RM, Rutter JL, Gail MH, Struewing J, Gastwirth JL. Efficiency of DNA Pooling to Estimate Joint Allele Frequen-cies and Measure Linkage Disequilibrium. Genet Epidemiol 2002;22:94–102.
   Google Scholar
• Wang S, Kidd KK, Zhao H. On the use of DNA pooling to estimate haplotype frequencies. Genet Epidemiol 2003;24:74–82.
   Google Scholar
• Hoh J, Matsuda F, Peng X, Markovic D, Lathrop MG, Ott J. SNP haplotype tagging from DNA pools of two individuals. BMC Bioinformatics 2003;4:14.
   PubMed Web of Science ®Google Scholar
• Yang Y, Zhang J, Hoh J, Matsuda F, Peng X, Lathrop M, et al. Efficiency of single nucleotide polymorphism haplotype estimation from pooled DNA. Proc Nat Acad Sci USA 2003; 100:7225–230.
   PubMed Web of Science ®Google Scholar
• Ueda H, Howson JM, Esposito L, Heward J, Snook H, Chamberlain G, et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 2003;423:506–11.
   PubMed Web of Science ®Google Scholar
• Rioux JD, Daly MJ, Silverberg MS, Lindblad K, Steinhart H, Cohen Z, et al. Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease. Nat Genet 2001;29(2)223–28.
   Google Scholar
• Van Eerdewegh P, Little RD, Dupuis J, Del Mastro RG, Falls K, Simon J, et al. Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness. Nature 2002;25: 426–30.
   Google Scholar
• Zhang Y, Leaves NI, Anderson GG, Ponting CP, Broxholme J, Holt R, et al. Positional cloning of a quantitative trait locus on chromosome 13ql4 that influences immunoglobulin E levels and asthma. Nat Genet 2003;34:181–6.
   PubMed Web of Science ®Google Scholar
• Veal CD, Capon F, Allen MH, Heath EK, Evans JC, Jones A, et al. Family-based analysis using a dense single-nucleotide polymorphism-based map defines genetic variation at PSORS1, the major psoriasis-susceptibility locus. Am J Hum Genet 2002;71:554–64.
   PubMed Web of Science ®Google Scholar
• Straub RE, Jiang YX, Maclean CJ, Ma YL, Webb BT, Myakishev MV, et al. Genetic Variation in the 6p22.3 Gene Dtnbpl, the Human Ortholog of the Mouse Dysbindin Gene, Is Associated With Schizophrenia. Am J Hum Genet 2002;71: 337–48.
   Google Scholar
• Straub RE, Jiang YX, Maclean CJ, Ma YL, Webb BT, Myakishev MV, et al. Genetic Variation in the 6p223 Gene Dtnbp1, the Human Ortholog of the Mouse Dysbindin Gene, Is Associated With Schizophrenia. Am J Hum Genet 2002;71: 337–48.
   PubMed Web of Science ®Google Scholar
• Schwab SG, Knapp M, Mondabon S, Hallmayer J, Borrmann-Hassenbach M, Albus M, et al. Support for Association of Schizophrenia With Genetic Variation in the 6p22.3 Gene, Dysbindin, in Sib-Pair Families With Linkage and in an Additional Sample of Triad Families. Am J Hum Genet 2003; 72:185–90.
   Google Scholar
• Williams NM, Preece A, Morris DW, Spurlock G, Bray NJ, Stephens M, et al. Confirmation in two independent samples that dystobrevin binding protein (DTNBP1) is a susceptibility locus for schizophrenia. Submitted.
   Google Scholar
• Stefansson H, Sigurdsson E, Steinthorsdottir V, Bjornsdottir S, Sigmundsson T, Ghosh S, et al. Neuregulin 1 and Susceptibility to Schizophrenia: Am J Hum Genet 2002; 71: 877–92.
   Google Scholar
• Reich DE, Lander ES. On the allelic spectrum of human disease. Trends Genet 2001;17:502–10.
   PubMed Web of Science ®Google Scholar
• Cardon LR, Abecasis GR. Using Haplotype Blocks to Map Human Complex Trait Loci. Trends Genet 2003;19:135-40. Jawaid A, Bader JS, Purcell S, Cherny SS, Sham P. Optimal selection strategies for QTL mapping using pooled DNA samples. Eur J Hum Genet 2002;10: 125–32.
   Google Scholar
• Taylor BA, Phillips SJ. Obesity QTLs on mouse chromosomes 2 and 17. Genomics 1997;43:249–57.
   PubMed Web of Science ®Google Scholar
• Weinberg CR, Umbach DM. Using pooled exposure assess-ment to improve efficiency in case-controls studies. Biometrics 1999;55:718–26.
   PubMed Web of Science ®Google Scholar