Jimenez-Sanchez G, Childs B, Valle D: Human disease genes. Nature. 2001, 409: 853-855. 10.1038/35057050.
Article
CAS
PubMed
Google Scholar
Gulcher JR, Kong A, Stefansson K: The role of linkage studies for common diseases. Curr Opin Genet Dev. 2001, 11: 264-267. 10.1016/S0959-437X(00)00188-X.
Article
CAS
PubMed
Google Scholar
Cooke GS, Hill AV: Genetics of susceptibility to human infectious disease. Nat Rev Genet. 2001, 2: 967-977. 10.1038/35103577.
Article
CAS
PubMed
Google Scholar
Risch N, Merikangas K: The future of genetic studies of complex human diseases. Science. 1996, 273: 1516-1517. 10.1126/science.273.5281.1516.
Article
CAS
PubMed
Google Scholar
Hirschhorn JN, Daly MJ: Genome-wide association studies for common diseases and complex traits. Nat Rev Genet. 2005, 6: 95-108.
Article
CAS
PubMed
Google Scholar
Klein RJ, Zeiss C, Chew EY, et al: Complement factor H polymorphism in age-related macular degeneration. Science. 2005, 308: 385-389. 10.1126/science.1109557.
Article
PubMed Central
CAS
PubMed
Google Scholar
Ozaki K, Ohnishi Y, Iida A, et al: Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction. Nat Genet. 2002, 32: 650-654. 10.1038/ng1047.
Article
CAS
PubMed
Google Scholar
Kasvosve I, Delanghe JR, Gomo ZA, et al: Transferrin polymorphism influences iron status in blacks. Clin Chem. 2000, 46: 1535-1539.
CAS
PubMed
Google Scholar
Ueda H, Howson JM, Esposito L, et al: Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature. 2003, 423: 506-511. 10.1038/nature01621.
Article
CAS
PubMed
Google Scholar
Tournamille C, Le Van Kim C, Gane P, et al: Molecular basis and PCR-DNA typing of the Fya/fyb blood group polymorphism. Hum Genet. 1995, 95: 407-410.
Article
CAS
PubMed
Google Scholar
Tsuge M, Hamamoto R, Silva FP, et al: A variable number of tandem repeats polymorphism in an E2F-1 binding element in the 5' flanking region of SMYD3 is a risk factor for human cancers. Nat Genet. 2005, 37: 1104-1107. 10.1038/ng1638.
Article
CAS
PubMed
Google Scholar
Zhou XF, Cui J, DeStefano AL, et al: Polymorphisms in the promoter region of catalase gene and essential hypertension. Dis Markers. 2005, 21: 3-7.
Article
PubMed Central
CAS
PubMed
Google Scholar
McDermott DH, Zimmerman PA, Guignard F, et al: CCR5 promoter polymorphism and HIV-1 disease progression. Multicenter AIDS Cohort Study (MACS). Lancet. 1998, 352: 866-870. 10.1016/S0140-6736(98)04158-0.
Article
CAS
PubMed
Google Scholar
Kostrikis LG, Neumann AU, Thomson B, et al: A polymorphism in the regulatory region of the CC-chemokine receptor 5 gene influences perinatal transmission of human immunodeficiency virus type 1 to African-American infants. J Virol. 1999, 73: 10264-10271.
PubMed Central
CAS
PubMed
Google Scholar
Sakuntabhai A, Turbpaiboon C, Casademont I, et al: A variant in the CD209 promoter is associated with severity of dengue disease. Nat Genet. 2005, 37: 507-513. 10.1038/ng1550.
Article
CAS
PubMed
Google Scholar
Carlson CS, Aldred SF, Lee PK, et al: Polymorphisms within the C-reactive protein (CRP) promoter region are associated with plasma CRP levels. Am J Hum Genet. 2005, 77: 64-77. 10.1086/431366.
Article
PubMed Central
CAS
PubMed
Google Scholar
VanNess SH, Owens MJ, Kilts CD: The variable number of tandem repeats element in DAT1 regulates in vitro dopamine transporter density. BMC Genet. 2005, 6: 55-
Article
PubMed Central
PubMed
Google Scholar
Kochi Y, Yamada R, Suzuki A, et al: A functional variant in FCRL3, encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunities. Nat Genet. 2005, 37: 478-485. 10.1038/ng1540.
Article
PubMed Central
CAS
PubMed
Google Scholar
Kwok JB, Hallupp M, Loy CT, et al: GSK3B polymorphisms alter transcription and splicing in Parkinson's disease. Ann Neurol. 2005, 58: 829-839. 10.1002/ana.20691.
Article
CAS
PubMed
Google Scholar
Al-Zahrani A, Sandhu MS, Luben RN, et al: IGF1 and IGFBP3 tagging polymorphisms are associated with circulating levels of IGF1, IGFBP3 and risk of breast cancer. Hum Mol Genet. 2006, 15: 1-10. 10.1093/hmg/ddl043.
Article
CAS
PubMed
Google Scholar
Bennett ST, Lucassen AM, Gough SC, et al: Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus. Nat Genet. 1995, 9: 284-292. 10.1038/ng0395-284.
Article
CAS
PubMed
Google Scholar
Karim MA, Wang X, Hale TC, Elbein SC: Insulin promoter factor 1 variation is associated with type 2 diabetes in African Americans. BMC Med Genet. 2005, 6: 37-
Article
PubMed Central
PubMed
Google Scholar
Przybylowska K, Kluczna A, Zadrozny M, et al: Polymorphisms of the promoter regions of matrix metalloproteinases genes MMP-1 and MMP-9 in breast cancer. Breast Cancer Res Treat. 2006, 95: 65-72. 10.1007/s10549-005-9042-6.
Article
CAS
PubMed
Google Scholar
Humphries SE, Luong LA, Talmud PJ, et al: The 5A/6A polymorphism in the promoter of the stromelysin-1 (MMP-3) gene predicts progression of angiographically determined coronary artery disease in men in the LOCAT gemfibrozil study Lopid Coronary Angiography Trial. Atherosclerosis. 1998, 139: 49-56. 10.1016/S0021-9150(98)00053-7.
Article
CAS
PubMed
Google Scholar
Ye S, Eriksson P, Hamsten A, et al: Progression of coronary atherosclerosis is associated with a common genetic variant of the human stromelysin-1 promoter which results in reduced gene expression. J Biol Chem. 1996, 271: 13055-13060. 10.1074/jbc.271.22.13055.
Article
CAS
PubMed
Google Scholar
Borm ME, van Bodegraven AA, Mulder CJ, et al: A NFKB1 promoter polymorphism is involved in susceptibility to ulcerative colitis. Int J Immunogenet. 2005, 32: 401-405. 10.1111/j.1744-313X.2005.00546.x.
Article
CAS
PubMed
Google Scholar
Emison ES, McCallion AS, Kashuk CS, et al: A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature. 2005, 434: 857-863. 10.1038/nature03467.
Article
CAS
PubMed
Google Scholar
Grice EA, Rochelle ES, Green ED, et al: Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCRimplicated enhancer. Hum Mol Genet. 2005, 14: 3837-3845. 10.1093/hmg/ddi408.
Article
CAS
PubMed
Google Scholar
Knight JC, Udalova I, Hill AV, et al: A polymorphism that affects OCT-1 binding to the TNF promoter region is associated with severe malaria. Nat Genet. 1999, 22: 145-150. 10.1038/9649.
Article
CAS
PubMed
Google Scholar
Gottesman II, Gould TD: The endophenotype concept in psychiatry: Etymology and strategic intentions. Am J Psychiatry. 2003, 160: 636-645. 10.1176/appi.ajp.160.4.636.
Article
PubMed
Google Scholar
Watts JA, Morley M, Burdick JT, et al: Gene expression phenotype in heterozygous carriers of ataxia telangiectasia. Am J Hum Genet. 2002, 71: 791-800. 10.1086/342974.
Article
PubMed Central
PubMed
Google Scholar
Kruglyak L, Nickerson DA: Variation is the spice of life. Nat Genet. 2001, 27: 234-236. 10.1038/85776.
Article
CAS
PubMed
Google Scholar
[http://www.ncbi.nlm.nih.gov/SNP/index.html]
[http://www.hapmap.org]
Benjamini Y, Hochberg Y: Controlling the false discovery rate -- A practical approach to multiple testing. J R Stat Soc Ser B Methodol. 1995, 57: 289-300.
Google Scholar
Storey JD, Tibshirani R: Statistical significance for genomewide studies. Proc Natl Acad Sci USA. 2003, 100: 9440-9445. 10.1073/pnas.1530509100.
Article
PubMed Central
CAS
PubMed
Google Scholar
Doerge RW, Churchill GA: Permutation tests for multiple loci affecting a quantitative character. Genetics. 1996, 142: 285-294.
PubMed Central
CAS
PubMed
Google Scholar
Cardon LR, Palmer LJ: Population stratification and spurious allelic association. Lancet. 2003, 361: 598-604. 10.1016/S0140-6736(03)12520-2.
Article
PubMed
Google Scholar
Pritchard JK, Stephens M, Rosenberg NA, Donnelly P: Association mapping in structured populations. Am J Hum Genet. 2000, 67: 170-181. 10.1086/302959.
Article
PubMed Central
CAS
PubMed
Google Scholar
Tang H, Quertermous T, Rodriguez B, et al: Genetic structure, self-identified race/ethnicity, and confounding in case-control association studies. Am J Hum Genet. 2005, 76: 268-275. 10.1086/427888.
Article
PubMed Central
CAS
PubMed
Google Scholar
Stranger BE, Dermitzakis ET: The genetics of regulatory variation in the human genome. Hum Genomics. 2005, 2: 126-131.
Article
PubMed Central
CAS
PubMed
Google Scholar
Cheung VG, Spielman RS, Ewens KG, et al: Mapping determinants of human gene expression by regional and genome-wide association. Nature. 2005, 437: 1365-1369. 10.1038/nature04244.
Article
PubMed Central
CAS
PubMed
Google Scholar
Monks SA, Leonardson A, Zhu H, et al: Genetic inheritance of gene expression in human cell lines. Am J Hum Genet. 2004, 75: 1094-1105. 10.1086/426461.
Article
PubMed Central
CAS
PubMed
Google Scholar
Morley M, Molony CM, Weber TM, et al: Genetic analysis of genome-wide variation in human gene expression. Nature. 2004, 430: 743-747. 10.1038/nature02797.
Article
PubMed Central
CAS
PubMed
Google Scholar
Stranger BE, Forrest MS, Clark AG, et al: Genome-wide associations of gene expression variation in humans. PLoS Genet. 2005, 1: e78-10.1371/journal.pgen.0010078.
Article
PubMed Central
PubMed
Google Scholar
Brem RB, Kruglyak L: The landscape of genetic complexity across 5,700 gene expression traits in yeast. Proc Natl Acad Sci USA. 2005, 102: 1572-1577. 10.1073/pnas.0408709102.
Article
PubMed Central
CAS
PubMed
Google Scholar
Brem RB, Yvert G, Clinton R, Kruglyak L: Genetic dissection of transcriptional regulation in budding yeast. Science. 2002, 296: 752-755. 10.1126/science.1069516.
Article
CAS
PubMed
Google Scholar
Yvert G, Brem RB, Whittle J, et al: Trans-acting regulatory variation in Saccharomyces cerevisiae and the role of transcription factors. Nat Genet. 2003, 35: 57-64.
Article
CAS
PubMed
Google Scholar
Cowles CR, Hirschhorn JN, Altshuler D, Lander ES: Detection of regulatory variation in mouse genes. Nat Genet. 2002, 32: 432-437. 10.1038/ng992.
Article
CAS
PubMed
Google Scholar
Doss S, Schadt EE, Drake TA, Lusis AJ: Cis-acting expression quantitative trait loci in mice. Genome Res. 2005, 15: 681-691. 10.1101/gr.3216905.
Article
PubMed Central
CAS
PubMed
Google Scholar
Sandberg R, Yasuda R, Pankratz DG, et al: Regional and strain-specific gene expression mapping in the adult mouse brain. Proc Natl Acad Sci USA. 2000, 97: 11038-11043.
Article
PubMed Central
CAS
PubMed
Google Scholar
Schadt EE, Monks SA, Drake TA, et al: Genetics of gene expression surveyed in maize, mouse and man. Nature. 2003, 422: 297-302. 10.1038/nature01434.
Article
CAS
PubMed
Google Scholar
Walker JR, Su AI, Self DW, et al: Applications of a rat multiple tissue gene expression data set. Genome Res. 2004, 14: 742-749. 10.1101/gr.2161804.
Article
PubMed Central
CAS
PubMed
Google Scholar
Oleksiak MF, Churchill GA, Crawford DL: Variation in gene expression within and among natural populations. Nat Genet. 2002, 32: 261-266. 10.1038/ng983.
Article
CAS
PubMed
Google Scholar
Oleksiak MF, Roach JL, Crawford DL: Natural variation in cardiac metabolism and gene expression in Fundulus heteroclitus. Nat Genet. 2005, 37: 67-72.
PubMed Central
CAS
PubMed
Google Scholar
Yan H, Yuan W, Velculescu VE, et al: Allelic variation in human gene expression. Science. 2002, 297: 1143-10.1126/science.1072545.
Article
CAS
PubMed
Google Scholar
Herbert A, Gerry NP, McQueen MB, et al: A common genetic variant is associated with adult and childhood obesity. Science. 2004, 312: 279-283.
Article
Google Scholar
The ENCODE Project Consortium: The ENCODE (ENCyclopedia Of DNA Elements) Project. Science. 2004, 306: 636-640.
Article
Google Scholar