Twin-Based DNA Methylation Analysis Takes the Center Stage of Studies of Human Complex Diseases

Dongfeng Zhang; Shuxia Li; Qihua Tan; Zengchang Pang

doi:10.1016/j.jgg.2012.07.012

Volume 39 Issue 11

Nov. 2012

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Article Navigation > Journal of Genetics and Genomics > 2012 > 39(11): 581-586

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Twin-Based DNA Methylation Analysis Takes the Center Stage of Studies of Human Complex Diseases

doi: 10.1016/j.jgg.2012.07.012

a
Department of Public Health, Qingdao University Medical College, 38 Dengzhou Street, Qingdao 266021, China
b
Institute of Clinical Research, Unit of Human Genetics, University of Southern Denmark, Sdr. Boulevard 29, Odense C DK-5000, Denmark
c
Epidemiology, Institute of Public Health, University of Southern Denmark, J. B. Winsløws Vej 9b, Odense C DK-5000, Denmark
d
Qingdao Center for Disease Control and Prevention, 175 Shandong Road, Qingdao 266033, China

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Corresponding author: E-mail address: zhangdf1961@126.com (Dongfeng Zhang)
Received Date: 2012-05-21
Accepted Date: 2012-07-31
Rev Recd Date: 2012-07-30

Available Online: 2012-09-22

Publish Date: 2012-11-20

Abstract

Abstract

The etiology of complex diseases is characterized by the interaction between the genome and environmental conditions and the interface of epigenetics may be a central mechanism. Current technologies already allow us high-throughput profiling of epigenetic patterns at genome level. However, our understanding of the epigenetic processes remains limited. Twins are special samples in genetic studies due to their genetic similarity and rearing-environment sharing. In the past decades, twins have made a great contribution in dissecting the genetic and environmental contributions to human diseases and complex traits. In the era of functional genomics, the valuable samples of twins are helping to bridge the gap between gene activity and environmental conditions through epigenetic mechanisms unlimited to DNA sequence variations. We review the recent progresses in using twins to study disease-related molecular epigenetic phenotypes and link them with environmental exposures especially early life events. Various study designs and application issues will be highlighted and discussed with aim at making uses of twins in assessing the environmental impact on epigenetic changes during the development of complex diseases.
- Twins,
- Complex diseases,
- Epigenetics,
- Environments,
- Genomics

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References(51)

References

[1]	Abecasis, G.R., Cardon, L.R., Cookson, W.O. A general test of association for quantitative traits in nuclear families Am. J. Hum. Genet., 66 (2000),pp. 279-292
[2]	Bell, J.T., Pai, A.A., Pickrell, J.K. et al. DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines PLoS Genet., 12 (2011),p. R10
[3]	Bell, J.T., Tsai, P.C., Yang, T.P. et al. Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing population PLoS Genet., 8 (2012),p. e1002629
[4]	Bocklandt, S., Lin, W., Sehlm, M.E. et al. Epigenetic predictor of age PLoS ONE, 6 (2011),p. e14821
[5]	Castro, R., Rivera, I., Ravasco, P. et al. J. Med. Genet., 41 (2004),pp. 454-458
[6]	Cheung, V.G., Spielman, R.S., Ewens, K.G. et al. Mapping determinants of human gene expression by regional and genome-wide association Nature, 437 (2005),pp. 1365-1369
[7]	De Moor, M.H., Spector, T.D., Cherkas, L.F. et al. Genome-wide linkage scan for athlete status in 700 British female DZ twin pairs Twin Res. Hum. Genet., 10 (2007),pp. 812-820
[8]	Dempster, E.L. Disease-associated epigenetic changes in monozygotic twins discordant for schizophrenia and bipolar disorder Hum. Mol. Genet., 20 (2011),pp. 4786-4796
[9]	Ewens, W.J., Li, M., Spielman, R.S. A review of family-based tests for linkage disequilibrium between a quantitative trait and a genetic marker PLoS Genet., 4 (2008),p. e1000180
[10]	Foley, D.L., Craig, J.M., Morley, R. et al. Prospects for epigenetic epidemiology Am. J. Epidemiol., 169 (2009),pp. 389-400
[11]	Fradin, D., Bougnères, P. T2DM: why epigenetics? J. Nutr. Metab., 2012 (2011),p. 647514
[12]	Fraga, M.F., Ballestar, E., Paz, M.F. et al. Epigenetic differences arise during the lifetime of monozygotic twins Proc. Natl. Acad. Sci. USA, 102 (2005),pp. 10604-10609
[13]	Frederiksen, H., Gaist, D., Petersen, H.C. et al. Hand grip strength: a phenotype suitable for identifying genetic variants affecting mid- and late-life physical functioning Genet. Epidemiol., 23 (2002),pp. 110-122
[14]	Friso, S., Choi, S.W., Girelli, D. et al. A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status Proc. Natl. Acad. Sci. USA, 99 (2002),pp. 5606-5611
[15]	Gervin, K., Vigeland, M.D., Mattingsdal, M. et al. DNA methylation and gene expression changes in monozygotic twins discordant for psoriasis: identification of epigenetically dysregulated genes PLoS Genet., 8 (2012),p. e1002454
[16]	Gilbert, S.F. Ageing and cancer as diseases of epigenesist J. Biosci., 34 (2009),pp. 601-604
[17]	Greenwood, T.A., Beeri, M.S., Schmeidler, J. et al. Heritability of cognitive functions in families of successful cognitive aging probands from the central valley of Costa Rica J. Alzheimers Dis., 27 (2011),pp. 897-907
[18]	Gronniger, E., Weber, B., Heil, O. et al. Aging and chronic sun exposure cause distinct epigenetic changes in human skin PLoS Genet., 6 (2010),p. e1000971
[19]	Herskind, A.M., McGue, M., Holm, N.V. et al. The heritability of human longevity: a population-based study of 2872 Danish twin pairs born 1870–1900 Hum. Genet., 97 (1996),pp. 319-323
[20]	Hjelmborg, J.B., Iachine, I., Skytthe, A. et al. Genetic influence on human lifespan and longevity Hum. Genet., 119 (2006),pp. 312-321
[21]	Holliday, R.
[22]	Kaminsky, Z.A., Tang, T., Wang, S.C. et al. DNA methylation profiles in monozygotic and dizygotic twins Nat. Genet., 41 (2009),pp. 240-245
[23]	Kruglyak, L., Lander, E.S. Complete multipoint sib-pair analysis of qualitative and quantitative traits Am. J. Hum. Genet., 57 (1995),pp. 439-454
[24]	Lillycrop, K.A., Burdge, G.C. Epigenetic changes in early life and future risk of obesity Int. J. Obes. (Lond), 35 (2011),pp. 72-83
[25]	Ling, C., Groop, L. Epigenetics: A molecular link between environmental factors and type 2 diabetes Diabetes, 58 (2009),pp. 2718-2725
[26]	Livshits, G., Kato, B.S., Wilson, S.G. et al. Linkage of genes to total lean body mass in normal women J. Clin. Endocrinol. Metab., 92 (2007),pp. 3171-3176
[27]	MacGregor, A.J., Snieder, H., Schork, N.J. et al. Twins. Novel uses to study complex traits and genetic diseases Trends Genet., 16 (2000),pp. 131-134
[28]	McCarthy, M.I., Hirschhorn, J.N. Genome-wide association studies: past, present and future Hum. Mol. Genet., 17 (2008),pp. R100-R101
[29]	McGowan, P.O., Szyf, M. The epigenetics of social adversity in early life: implications for mental health outcomes Neurobiol. Dis., 39 (2010),pp. 66-72
[30]	Monks, S.A., Leonardson, A., Zhu, H. et al. Genetic inheritance of gene expression in human cell lines Am. J. Hum. Genet., 75 (2004),pp. 1094-1105
[31]	Murgatroyd, C., Spengler, D. Epigenetics of early child development Front. Psychiatry, 16 (2011),pp. 1-15
[32]	Morley, M., Molony, C.M., Weber, T.M. et al. Genetic analysis of genome-wide variation in human gene expression Nature, 430 (2004),pp. 743-747
[33]	O'Connor, D.T., Zhu, G., Rao, F. et al. 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 (2008),pp. 247-257
[34]	Pál, C., Hurst, L.D.
[35]	Perola, M., Sammalisto, S., Hiekkalinna, T. et al. Combined genome scans for body stature in 6,602 European twins: evidence for common Caucasian loci PLoS Genet., 3 (2007),p. e97
[36]	Petronis, A., Gottesman, I.I., Kan, P. et al. Monozygotic twins exhibit numerous epigenetic differences: clues to twin discordance? Schizophr. Bull., 29 (2003),pp. 169-178
[37]	Petronis, A. Epigenetics and twins: three variations on the theme Trends Genet., 22 (2006),pp. 347-350
[38]	Petronis, A. Epigenetics as a unifying principle in the aetiology of complex traits and diseases Nature, 465 (2010),pp. 721-727
[39]	Pietiläinen, K.H., Naukkarinen, J., Rissanen, A. et al. Global transcript profiles of fat in monozygotic twins discordant for BMI: pathways behind acquired obesity PLoS Med., 5 (2008),p. e51
[40]	Poulsen, P., Esteller, M., Vaag, A. et al. The epigenetic basis of twin discordance in age-related diseases Pediatr. Res., 61 (2007),pp. 38R-42R
[41]	Reynolds, C.A., Finkel, D., McArdle, J.J. et al. Quantitative genetic analysis of latent growth curve models of cognitive abilities in adulthood Dev. Psychol., 41 (2005),pp. 3-16
[42]	Roberts, N.J., Vogelstein, J.T., Parmigiani, G. et al. The predictive capacity of personal genome sequencing Sci. Transl. Med., 4 (2012),p. 133ra58
[43]	Spielman, R.S., Ewens, W.J. A sibship test for linkage in the presence of association: the sib transmission/disequilibrium test Am. J. Hum. Genet., 62 (1998),pp. 450-458
[44]	Szyf, M., Weaver, I., Meaney, M. Maternal care, the epigenome and phenotypic differences in behavior Reprod. Toxicol., 24 (2007),pp. 9-19
[45]	Szyf, M., McGowan, P., Meaney, M.J. The social environment and the epigenome Environ. Mol. Mutagen., 49 (2008),pp. 46-60
[46]	Tan, Q., Christensen, K., Christiansen, L. et al. Genetic dissection of gene expression observed in whole blood samples of elderly Danish twins Hum. Genet., 117 (2005),pp. 267-274
[47]	Tan, Q., Kyvik, K.O., Kruse, T.A. et al. Dissecting complex phenotypes using the genomics of twins Funct. Integr. Genomic., 10 (2010),pp. 321-327
[48]	Wang, S.C., Oelze, B., Schumacher, A. Age-specific epigenetic drift in late-onset Alzheimer's disease PLoS ONE, 3 (2008),p. e2698
[49]	Wong, A.H., Gottesman, I.I., Petronis, A. Phenotypic differences in genetically identical organisms: the epigenetic perspective Hum. Mol. Genet., 14 (2005),pp. R11-R18
[50]	Zhang, J., Chiodini, R., Badr, A. et al. The impact of next-generation sequencing on genomics J. Genet. Genomics, 38 (2011),pp. 95-109
[51]	Zhang, Y., Jeltsch, A. The application of next generation sequencing in DNA methylation analysis Genes, 1 (2010),pp. 85-101