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Abecasis GR, Cardon LR, Cookson WO (2000) A general test of association for quantitative traits in nuclear families. Am J Hum Genet 66(1):279–292 Boomsma D, Busjahn A, Peltonen L (2002) Classical twin studies and beyond. Nat Rev Genet 3(11):872–882 Bruder CE, Piotrowski A, Gijsbers AA et al (2008) Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet 82(3):763–771 Cheung VG, Spielman RS, Ewens KG, Weber TM, Morley M, Burdick JT (2005) Mapping determinants of human gene expression by regional and genome-wide association. Nature 437(7063):1365–1369 Correa CR, Cheung VG (2004) Genetic variation in radiation-induced expression phenotypes. Am J Hum Genet 75(5):885–890 De Moor MH, Spector TD, Cherkas LF, Falchi M, Hottenga JJ, Boomsma DI, De Geus EJ (2007) Genome-wide linkage scan for athlete status in 700 British female DZ twin pairs. Twin Res Hum Genet 10(6):812–820 De Smith AJ, Walters RG, Froguel P, Blakemore AI (2008) Human genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease. Cytogenet Genome Res 123(1–4):17–26 Ewens WJ, Li M, Spielman RS (2008) A review of family-based tests for linkage disequilibrium between a quantitative trait and a genetic marker. PLoS Genet 4(9):e1000180 Fraga MF, Ballestar E, Paz MF et al (2005) Epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci USA 102(30):10604–10609 Gibson G (2008) The environmental contribution to gene expression profiles. Nat Rev Genet 9:575–581 Herskind AM, McGue M, Holm NV, Sorensen TI, Harvald B, Vaupel JW (1996) The heritability of human longevity: a population-based study of 2872 Danish twin pairs born 1870–1900. Hum Genet 97:319–323 Hjelmborg JB, Iachine I, Skytthe A, Vaupel JW, McGue M, Koskenvuo M, Kaprio J, Pedersen NL, Christensen K (2006) Genetic influence on human lifespan and longevity. Hum Genet 119:312–321 Jansen RC, Nap JP (2001) Genetical genomics: the added value from segregation. Trends Genet 17(7):388–391 Kaminsky Z, Petronis A, Wang SC, Levine B, Ghaffar O, Floden D, Feinstein A (2008) Epigenetics of personality traits: an illustrative study of identical twins discordant for risk-taking behaviour. Twin Res Hum Genet 11(1):1–11 Kaminsky ZA, Tang T, Wang SC, Ptak C, Oh GH, Wong AH, Feldcamp LA, Virtanen C, Halfvarson J, Tysk C, McRae AF, Visscher PM, Montgomery GW, Gottesman II, Martin NG, Petronis A (2009) DNA methylation profiles in monozygotic and dizygotic twins. Nat Genet 41(2):240–245 Li J, Burmeister M (2005) Genetical genomics: combining genetics with gene expression analysis. Hum Mol Genet 14 Spec No. 2:R163-169. Livshits G, Kato BS, Wilson SG, Spector TD (2007a) Linkage of genes to total lean body mass in normal women. J Clin Endocrinol Metab 92(8):3171–3176 Livshits G, Kato BS, Zhai G, Hart DJ, Hunter D, MacGregor AJ, Williams FM, Spector TD (2007b) Genomewide linkage scan of hand osteoarthritis in female twin pairs showing replication of quantitative trait loci on chromosomes 2 and 19. Ann Rheum Dis 66(5):623–627 MacGregor AJ, Snieder H, Schork NJ, Spector TD (2000) Twins. Novel uses to study complex traits and genetic diseases. Trends Genet 16(3):131–134 Maier S, Olek A (2002) Diabetes: a candidate disease for efficient DNA methylation profiling. J Nutr 132(8 Suppl):2440S–2443S Martin N (2000) Gene-environment interaction and twin studies. In: Spector TD, Snieder H, MacGregor AJ (eds) Advances in twin and sib-pair analysis. Greenwich Medical Media, London, pp 143–150 Mathers JC (2008) Session 2: personalised nutrition. Epigenomics: a basis for understanding individual differences? Proc Nutr Soc 67(4):390–394 Monks SA, Leonardson A, Zhu H, Cundiff P, Pietrusiak P, Edwards S, Phillips JW, Sachs A, Schadt EE (2004) Genetic inheritance of gene expression in human cell lines. Am J Hum Genet 75(6):1094–1105 Morley M, Molony CM, Weber TM, Devlin JL, Ewens KG, Spielman RS, Cheung VG (2004) Genetic analysis of genome-wide variation in human gene expression. Nature 430(7001):743–747 O'Connor DT, Zhu G, Rao F, Taupenot L, Fung MM, Das M, Mahata SK, Mahata M, Wang L, Zhang K, Greenwood TA, Shih PA, Cockburn MG, Ziegler MG, Stridsberg M, Martin NG, Whitfield JB (2008) Heritability and genome-wide linkage in US and Australian twins identify novel genomic regions controlling chromogranin a: implications for secretion and blood pressure. Circulation 118(3):247–257 Pellis L (2003) Franssen-van Hal NL, Burema J, Keijer J. The intraclass correlation coefficient applied for evaluation of data correction, labeling methods, and rectal biopsy sampling in DNA microarray experiments. Physiol Genomics 16(1):99–106 Peltonen L, McKusick VA (2001) Genomics and medicine. Dissecting human disease in the postgenomic era. Science 291(5507):1224–1229 Perola M, Sammalisto S, Hiekkalinna T et al (2007) Combined genome scans for body stature in 6,602 European twins: evidence for common Caucasian loci. PLoS Genet 3(6):e97 Petronis A (2006) Epigenetics and twins: three variations on the theme. Trends Genet 22(7):347–350 Petronis A, Gottesman II, Kan P, Kennedy JL, Basile VS, Paterson AD, Popendikyte V (2003) Monozygotic twins exhibit numerous epigenetic differences: clues to twin discordance? Schizophr Bull 29(1):169–178 Pietiläinen KH, Naukkarinen J, Rissanen A, Saharinen J, Ellonen P, Keränen H, Suomalainen A, Götz A, Suortti T, Yki-Järvinen H, Oresic M, Kaprio J, Peltonen L (2008) Global transcript profiles of fat in monozygotic twins discordant for BMI: pathways behind acquired obesity. PLoS Med 5(3):e51 Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, Collins C, Kuo WL, Chen C, Zhai Y, Dairkee SH, Ljung BM, Gray JW, Albertson DG (1998) High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 20(2):207–211 Poulsen P, Kyvik KO, Vaag A, Beck-Nielsen H (1999) Heritability of type 2 (non-insulin-dependent) diabetes mellitus and abnormal glucose tolerance—a population-based twin study. Diabetologia 42:139–145 Poulsen P, Esteller M, Vaag A, Fraga MF (2007) The epigenetic basis of twin discordance in age-related diseases. Pediatr Res 61(5 Pt 2):38R–42R Rockman MV, Kruglyak L (2006) Genetics of global gene expression. Nat Rev Genet 7(11):862–872 Rodenhiser D, Mann M (2006) Epigenetics and human disease: translating basic biology into clinical applications. CMAJ 174(3):341–348 Schadt EE, Monks SA, Drake TA, Lusis AJ, Che N, Colinayo V, Ruff TG, Milligan SB, Lamb JR, Cavet G, Linsley PS, Mao M, Stoughton RB, Friend SH (2003) Genetics of gene expression surveyed in maize, mouse and man. Nature 422:297–302 Spector TD, MacGregor AJ, Snieder H (2000) Uses of twins in studying the genetics of complex traits. GeneScreen 1:93–95 Spielman RS, Ewens WJ (1998) A sibship test for linkage in the presence of association: the sib transmission/disequilibrium test. Am J Hum Genet 62(2):450–458 Tan Q, Christensen K, Christiansen L, Frederiksen H, Bathum L, Dahlgaard J, Kruse TA (2005) Genetic dissection of gene expression observed in whole blood samples of elderly Danish twins. Hum Genet 117:267–274 Tan Q, Zhao J, Li S, Christiansen L, Kruse TA, Christensen K (2008) Differential and correlation analyses of microarray gene expression data in the CEPH Utah families. Genomics 92(2):94–100 Wray NR, Coventry WL, James MR, Montgomery GW, Eaves LJ, Martin NG (2008) Use of monozygotic twins to investigate the relationship between 5HTTLPR genotype, depression and stressful life events: an application of Item Response Theory. Novartis Found Symp 293:48–67 York TP, Miles MF, Kendler KS, Jackson-Cook C, Bowman ML, Eaves LJ (2005) Epistatic and environmental control of genome-wide gene expression. Twin Res Hum Genet 8(1):5–15