Access the full text.
Sign up today, get DeepDyve free for 14 days.
Michael Boehnke (1994)
Limits of resolution of genetic linkage studies: implications for the positional cloning of human disease genes.American journal of human genetics, 55 2
(2015)
A genome-wide screening and SNPs-togenes approach to identify novel genetic risk factors
Q. Tan, J. Zhao, Shuxia Li, T. Kruse, K. Christensen (2010)
Power assessment for genetic association study of human longevity using offspring of long-lived subjectsEuropean Journal of Epidemiology, 25
R. Ferrari, M. Grassi, E. Salvi, B. Borroni, Fernando Palluzzi, D. Pepe, Francesca D’Avila, A. Padovani, S. Archetti, I. Rainero, E. Rubino, L. Pinessi, L. Benussi, G. Binetti, R. Ghidoni, D. Galimberti, E. Scarpini, M. Serpente, G. Rossi, G. Giaccone, F. Tagliavini, B. Nacmias, I. Piaceri, S. Bagnoli, A. Bruni, R. Maletta, L. Bernardi, A. Postiglione, G. Milan, M. Franceschi, A. Puca, V. Novelli, C. Barlassina, N. Glorioso, P. Manunta, A. Singleton, D. Cusi, J. Hardy, P. Momeni (2015)
A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementiaNeurobiology of Aging, 36
M. Dichgans, R. Malik, I. König, J. Rosand, R. Clarke, S. Gretarsdottir, G. Thorleifsson, B. Mitchell, T. Assimes, C. Levi, C. O’Donnell, M. Fornage, U. Thorsteinsdóttir, B. Psaty, C. Hengstenberg, S. Seshadri, J. Erdmann, J. Bis, A. Peters, G. Boncoraglio, W. März, J. Meschia, S. Kathiresan, M. Ikram, R. McPherson, K. Stefánsson, C. Sudlow, M. Reilly, J. Thompson, Pankaj Sharma, J. Hopewell, J. Chambers, H. Watkins, P. Rothwell, R. Roberts, H. Markus, N. Samani, M. Farrall, H. Schunkert (2014)
Shared Genetic Susceptibility to Ischemic Stroke and Coronary Artery Disease: A Genome-Wide Analysis of Common VariantsStroke, 45
P. Gluckman, M. Hanson (2004)
Living with the Past: Evolution, Development, and Patterns of DiseaseScience, 305
P. Kraft, E. Zeggini, J. Ioannidis (2009)
Replication in genome-wide association studies.Statistical science : a review journal of the Institute of Mathematical Statistics, 24 4
(1994)
OCC: ordinary case-control; DZ DCT: dizygotic disease concordant twin; MZ DCT: monozygotic disease concordant twin. The sample sizes were estimated with increment of 10 samples
T. Manolio, F. Collins, N. Cox, D. Goldstein, L. Hindorff, D. Hunter, M. McCarthy, E. Ramos, L. Cardon, A. Chakravarti, Judy Cho, A. Guttmacher, A. Kong, L. Kruglyak, E. Mardis, C. Rotimi, M. Slatkin, David Valle, A. Whittemore, M. Boehnke, A. Clark, E. Eichler, G. Gibson, J. Haines, T. Mackay, S. Mccarroll, P. Visscher (2009)
Finding the missing heritability of complex diseasesNature, 461
N. Freimer, C. Sabatti (2004)
The use of pedigree, sib-pair and association studies of common diseases for genetic mapping and epidemiologyNature Genetics, 36
Jacob Tennessen, A. Bigham, T. O’Connor, Wenqing Fu, E. Kenny, S. Gravel, S. McGee, R. Do, Xiaomin Liu, G. Jun, H. Kang, D. Jordan, S. Leal, S. Gabriel, M. Rieder, G. Abecasis, D. Altshuler, D. Nickerson, E. Boerwinkle, S. Sunyaev, C. Bustamante, M. Bamshad, J. Akey (2012)
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human ExomesScience, 337
B. Maher (2008)
Personal genomes: The case of the missing heritabilityNature, 456
Q. Tan, L. Christiansen, Jacob Hjelmborg, K. Christensen (2015)
Twin methodology in epigenetic studiesJournal of Experimental Biology, 218
Seunggeun Lee, G. Abecasis, M. Boehnke, Xihong Lin (2014)
Rare-variant association analysis: study designs and statistical tests.American journal of human genetics, 95 1
(2012)
Estimating heritability from twin studies. Methods in molecular biology
F. Rijsdijk, P. Sham (2002)
Analytic approaches to twin data using structural equation modelsBriefings in bioinformatics, 3 2
M. Nelson, Daniel Wegmann, M. Ehm, Darren Kessner, P. Jean, Claudio Verzilli, Judong Shen, Zhengzheng Tang, S. Bacanu, D. Fraser, L. Warren, J. Aponte, M. Zawistowski, Xiao Liu, Hao Zhang, Yong Zhang, Jun Li, Yun Li, Li Li, Peter Woollard, S. Topp, M. Hall, Keith Nangle, Jun Wang, G. Abecasis, L. Cardon, S. Zöllner, J. Whittaker, S. Chissoe, J. Novembre, V. Mooser (2013)
Sequenced in 14 , 002 People An Abundance of Rare Functional Variants in 202 Drug Target Genes
E. Hayden (2014)
Technology: The $1,000 genomeNature, 507
D. Boomsma, A. Busjahn, L. Peltonen (2002)
Classical twin studies and beyondNature Reviews Genetics, 3
N. Risch, K. Merikangas (1996)
The Future of Genetic Studies of Complex Human DiseasesScience, 273
X. Bao, Gengfeng Liu, Yongshuai Jiang, Qinghua Jiang, Mingzhi Liao, R. Feng, Liangcai Zhang, Guoda Ma, Shuyan Zhang, Zugen Chen, Bin Zhao, Renzhi Wang, Keshen Li, Guiyou Liu (2015)
Cell adhesion molecule pathway genes are regulated by cis-regulatory SNPs and show significantly altered expression in Alzheimer's disease brainsNeurobiology of Aging, 36
K. Verweij, M. Mosing, Brendan Zietsch, S. Medland (2012)
Estimating heritability from twin studies.Methods in molecular biology, 850
The Multiple Tissue Human Expression Resource
J. Ott, Jing Wang, S. Leal (2015)
Genetic linkage analysis in the age of whole-genome sequencingNature Reviews Genetics, 16
Q. Tan, J. Zhao, T. Kruse, K. Christensen (2014)
Power Estimation for Gene-Longevity Association Analysis Using Concordant TwinsGenetics Research International, 2014
C. Capatina (2010)
Early Life Origins of Human Health and DiseaseActa Endocrinologica-bucharest, 6
Q. Tan, J. Zhao, Dongfeng Zhang, T. Kruse, K. Christensen (2008)
Power for genetic association study of human longevity using the case-control design.American journal of epidemiology, 168 8
S. Shin, E. Fauman, A. Petersen, J. Krumsiek, Rita Santos, Jie Huang, M. Arnold, Idil Erte, Vincenzo Forgetta, Tsun-Po Yang, Klaudia Walter, C. Menni, Lu Chen, Louella Vasquez, A. Valdes, C. Hyde, Vicky Wang, D. Ziemek, P.G. Roberts, L. Xi, E. Grundberg, M. Waldenberger, J. Richards, R. Mohney, M. Milburn, S. John, J. Trimmer, Fabian Theis, John Overington, K. Suhre, M. Brosnan, C. Gieger, G. Kastenmüller, T. Spector, N. Soranzo (2014)
An atlas of genetic influences on human blood metabolitesNature genetics, 46
C. Spencer, Z. Su, P. Donnelly, J. Marchini (2009)
Designing Genome-Wide Association Studies: Sample Size, Power, Imputation, and the Choice of Genotyping ChipPLoS Genetics, 5
M. Nelson, Daniel Wegmann, M. Ehm, Darren Kessner, P. Jean, Claudio Verzilli, Judong Shen, Zhengzheng Tang, S. Bacanu, D. Fraser, L. Warren, J. Aponte, M. Zawistowski, Xiao Liu, Hao Zhang, Yong Zhang, Jun Li, Yun Li, Li Li, Peter Woollard, S. Topp, M. Hall, Keith Nangle, Jun Wang, G. Abecasis, L. Cardon, S. Zöllner, J. Whittaker, S. Chissoe, J. Novembre, V. Mooser (2012)
An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 PeopleScience, 337
(2014)
Technology: The $1,000
Genome‐wide association studies with moderate sample sizes are underpowered, especially when testing SNP alleles with low allele counts, a situation that may lead to high frequency of false‐positive results and lack of replication in independent studies. Related individuals, such as twin pairs concordant for a disease, should confer increased power in genetic association analysis because of their genetic relatedness. We conducted a computer simulation study to explore the power advantage of the disease‐concordant twin design, which uses singletons from disease‐concordant twin pairs as cases and ordinary healthy samples as controls. We examined the power gain of the twin‐based design for various scenarios (i.e., cases from monozygotic and dizygotic twin pairs concordant for a disease) and compared the power with the ordinary case‐control design with cases collected from the unrelated patient population. Simulation was done by assigning various allele frequencies and allelic relative risks for different mode of genetic inheritance. In general, for achieving a power estimate of 80%, the sample sizes needed for dizygotic and monozygotic twin cases were one half and one fourth of the sample size of an ordinary case‐control design, with variations depending on genetic mode. Importantly, the enriched power for dizygotic twins also applies to disease‐concordant sibling pairs, which largely extends the application of the concordant twin design. Overall, our simulation revealed a high value of disease‐concordant twins in genetic association studies and encourages the use of genetically related individuals for highly efficiently identifying both common and rare genetic variants underlying human complex diseases without increasing laboratory cost.
Annals of Human Genetics – Wiley
Published: Jan 1, 2017
Keywords: ; ; ; ;
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.