Jump to ContentJump to Main Navigation
Show Summary Details

Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter / Tate, Jillian R.

IMPACT FACTOR increased in 2015: 3.017
Rank 5 out of 30 in category Medical Laboratory Technology in the 2014 Thomson Reuters Journal Citation Report/Science Edition

SCImago Journal Rank (SJR) 2015: 0.873
Source Normalized Impact per Paper (SNIP) 2015: 0.982
Impact per Publication (IPP) 2015: 2.238

See all formats and pricing


Select Volume and Issue


30,00 € / $42.00 / £23.00

Get Access to Full Text

Population Genomics: Laying the Groundwork for Genetic Disease Modeling and Targeting

Jeff Gulcher / Kari Stefansson

Citation Information: Clinical Chemistry and Laboratory Medicine. Volume 36, Issue 8, Pages 523–527, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/CCLM.1998.089, June 2005

Publication History

Published Online:


The family has proven the most appropriate unit with which to study Mendelian diseases. There are, however, certain limitations on the use of the family as a fundamental unit in the study of common diseases, most of which are complex genetic diseases. The groups that are most likely to yield the genetics of complex diseases are isolated populations with strong founder effects. Therefore, access to such populations is proving to be a precious resource in the work on the genetics of common diseases. The Icelandic population is an excellent population for the study of the genetics of common diseases; it is genetically homogeneous, with founder effects for many traits, and the genealogy of the entire nation is well documented back to the founding days. Furthermore, the nature of the Icelandic national health care system facilitates the assignment of phenotypes in the search for disease genes.

Decode Genetics has begun to study of the genetics of 20 of the most common diseases in the Western parts of the world. The company has placed the groundwork for the construction of an encrypted database with information on the health care of the entire nation, genealogy of the entire nation, genotyping information with high density of markers on a large part of the nation (including typing for known disease genes), and resource use in the Icelandic health care system. The plan is to build the database with approval of participating individuals as well as Icelandic government and health care officials. The database will be used to model health care as viewed in the context of genetic predisposition to the development of disease. The database will also be used in the search for drug targets in complex diseases and in the solution of pharmacogenomic problems. Basing the company in Iceland directly benefits the population in terms of employment and return on investment as well as providing the health care system with an information resource which may be used in preventive medicine and in the optimization of health care in Iceland.

Citing Articles

Here you can find all Crossref-listed publications in which this article is cited. If you would like to receive automatic email messages as soon as this article is cited in other publications, simply activate the “Citation Alert” on the top of this page.

Thorvaldur Ingvarsson
Acta Orthopaedica, 2001, Volume 72, Number 1, Page 1
Stefano R. Giannubilo, Beatrice Landi, and Andrea Ciavattini
Obstetrical & Gynecological Survey, 2014, Volume 69, Number 12, Page 747
Janet E. Olson, Euijung Ryu, Kiley J. Johnson, Barbara A. Koenig, Karen J. Maschke, Jody A. Morrisette, Mark Liebow, Paul Y. Takahashi, Zachary S. Fredericksen, Ruchi G. Sharma, Kari S. Anderson, Matthew A. Hathcock, Jason A. Carnahan, Jyotishman Pathak, Noralane M. Lindor, Timothy J. Beebe, Stephen N. Thibodeau, and James R. Cerhan
Mayo Clinic Proceedings, 2013, Volume 88, Number 9, Page 952
E. Glasson, N. de Klerk, A. Bass, D. Rosman, L. Palmer, and C. Holman
International Journal of Epidemiology, 2008, Volume 37, Number 1, Page 30
Illugi F. Birkisson, Eva Halapi, Unnur S. Bjornsdottir, Dana L. Shkolny, Elva Adalsteinsdottir, Thor Arnason, David Gislason, Thorarinn Gislason, Jeffrey Gulcher, Kari Stefansson, and Hakon Hakonarson
American Journal of Respiratory and Critical Care Medicine, 2004, Volume 169, Number 9, Page 1007
American Journal of Respiratory and Critical Care Medicine, 2001, Volume 164, Number 11, Page 2036
Lars Lind, Sölve Elmståhl, Ebba Bergman, Martin Englund, Eva Lindberg, Karl Michaelsson, Peter M. Nilsson, and Johan Sundström
European Journal of Epidemiology, 2013, Volume 28, Number 2, Page 189
R.R. Gullapalli, M. Lyons-Weiler, P. Petrosko, R. Dhir, M.J. Becich, and W.A. LaFramboise
Clinics in Laboratory Medicine, 2012, Volume 32, Number 4, Page 585
R. Arngrimsson, S. Siguroaroottir, M. L. Frigge, R. I. Bjarnaoottir, T. Jonsson, H. Stefansson, A. Baldursdottir, A. S. Einarsdottir, B. Palsson, S. Snorradottir, A. M. A. Lachmeijer, D. Nicolae, A. Kong, B. T. Bragason, J. R. Gulcher, R. T. Geirsson, and K. Stefansson
Human Molecular Genetics, 1999, Volume 8, Number 9, Page 1799
A.H Smith, E.A Wolfgang, D.M Flynn, C.P.A Doe, and D.R Knight
Journal of Pharmacological and Toxicological Methods, 2000, Volume 43, Number 2, Page 125
David Kaufman, Juli Murphy, Joan Scott, and Kathy Hudson
Genetics in Medicine, 2008, Volume 10, Number 11, Page 831
Giuseppe Milani, Corrado Masciullo, Cinzia Sala, Riccardo Bellazzi, Iwan Buetti, Giorgio Pistis, Michela Traglia, Daniela Toniolo, and Cristiana Larizza
Journal of Biomedical Informatics, 2011, Volume 44, Number 6, Page 997
Sigurlaug Sveinbjörnsdóttir, Andrew A. Hicks, Thorlákur Jónsson, Hjörvar Pétursson, Grétar Guðmundsson, Michael L. Frigge, Augustine Kong, Jeffrey R. Gulcher, and Kári Stefánsson
New England Journal of Medicine, 2000, Volume 343, Number 24, Page 1765
Jon F. Merz, Glenn E. McGee, and Pamela Sankar
Social Science & Medicine, 2004, Volume 58, Number 6, Page 1201
Sigrun Hjartardottir, Björn G. Leifsson, Reynir T. Geirsson, and Valgerdur Steinthorsdottir
American Journal of Obstetrics and Gynecology, 2006, Volume 194, Number 4, Page 916
Hakon Hakonarson, Unnur S. Bjornsdottir, Eva Halapi, Snaebjorn Palsson, Elva Adalsteinsdottir, David Gislason, Gudmundur Finnbogason, Thorarinn Gislason, Kristleifur Kristjansson, Thor Arnason, Illugi Birkisson, Michael L. Frigge, Augustine Kong, Jeffrey R. Gulcher, and Kari Stefansson
The American Journal of Human Genetics, 2002, Volume 71, Number 3, Page 483
Stefán Einar Stefánsson, Helgi Jónsson, Thorvaldur Ingvarsson, Ileana Manolescu, Hjörtur H. Jónsson, Guðbjörg Ólafsdóttir, Ebba Pálsdóttir, Gerður Stefánsdóttir, Guðfinna Sveinbjörnsdóttir, Michael L. Frigge, Augustine Kong, Jeffrey R. Gulcher, and Kári Stefánsson
The American Journal of Human Genetics, 2003, Volume 72, Number 6, Page 1448
Thorgeir E. Thorgeirsson, Högni Oskarsson, Natasa Desnica, Jelena Pop Kostic, Jon G. Stefansson, Halldor Kolbeinsson, Eirikur Lindal, Nikolai Gagunashvili, Michael L. Frigge, Augustine Kong, Kari Stefansson, and Jeffrey R. Gulcher
The American Journal of Human Genetics, 2003, Volume 72, Number 5, Page 1221
John S. Witte
Annual Review of Public Health, 2010, Volume 31, Number 1, Page 9
Amir Rattner, Hui Sun, and Jeremy Nathans
Annual Review of Genetics, 1999, Volume 33, Number 1, Page 89
Lisa A. Cannon Albright, Nicola J. Camp, James M. Farnham, Joel Macdonald, Keyvan Abtin, and Kerry G. Rowe
Journal of Neurosurgery, 2003, Volume 99, Number 4, Page 637
Catarina Almqvist, Hans-Olov Adami, Paul W. Franks, Leif Groop, Erik Ingelsson, Juha Kere, Lauren Lissner, Jan-Eric Litton, Markus Maeurer, Karl Michaëlsson, Juni Palmgren, Göran Pershagen, Alexander Ploner, Patrick F. Sullivan, Gunnel Tybring, and Nancy L. Pedersen
European Journal of Epidemiology, 2011, Volume 26, Number 1, Page 67
Darwin J. Prockop
Journal of Bone and Mineral Research, 1999, Volume 14, Number 12, Page 2000
William T. Couldwell and Lisa Cannon-Albright
Pituitary, 2010, Volume 13, Number 2, Page 130
C. Bellis, H. C. Cox, T. D. Dyer, J. C. Charlesworth, K. N. Begley, S. Quinlan, R. A. Lea, S. C. Heath, J. Blangero, and L. R. Griffiths
Human Genetics, 2008, Volume 124, Number 5, Page 543
DM Roden, JM Pulley, MA Basford, GR Bernard, EW Clayton, JR Balser, and DR Masys
Clinical Pharmacology & Therapeutics, 2008, Volume 84, Number 3, Page 362
C Bellis, H C Cox, M Ovcaric, K N Begley, R A Lea, S Quinlan, D Burgner, S C Heath, J Blangero, and L R Griffiths
Heredity, 2008, Volume 100, Number 4, Page 366
Gudmundur Gudmundsson, Stefan E. Matthiasson, Haukur Arason, Halldor Johannsson, Freyr Runarsson, Hjördis Bjarnason, Katrin Helgadottir, Steinthora Thorisdottir, Gudrun Ingadottir, Klaus Lindpaintner, Jesus Sainz, Vilmundur Gudnason, Michael L. Frigge, Augustine Kong, Jeffrey R. Gulcher, and Kari Stefansson
The American Journal of Human Genetics, 2002, Volume 70, Number 3, Page 586
Laufey T. Amundadottir, Sverrir Thorvaldsson, Daniel F. Gudbjartsson, Patrick Sulem, Kristleifur Kristjansson, Sigurdur Arnason, Jeffrey R. Gulcher, Johannes Bjornsson, Augustine Kong, Unnur Thorsteinsdottir, and Kari Stefansson
PLoS Medicine, 2004, Volume 1, Number 3, Page e65
Robert J. Sternberg, Elena L. Grigorenko, and Kenneth K. Kidd
American Psychologist, 2005, Volume 60, Number 1, Page 46
Luba Kalaydjieva, Bharti Morar, Raphaelle Chaix, and Hua Tang
BioEssays, 2005, Volume 27, Number 10, Page 1084
Jordi Clarimon, Hilmir Asgeirsson, Andrew Singleton, Finnbogi Jakobsson, Haukur Hjaltason, John Hardy, and Sigurlaug Sveinbjornsdottir
Annals of Neurology, 2005, Volume 57, Number 5, Page 765
Ari Karason, Johann E. Gudjonsson, Hjortur H. Jonsson, Valdimar B. Hauksson, E. Hjaltey Runarsdottir, Kari Stefansson, Helgi Valdimarsson, and Jeffrey R. Gulcher
Journal of Investigative Dermatology, 2005, Volume 124, Number 6, Page 1177
S. A. Dowsett, L. Archila, V. A. Segreto, G. J. Eckert, and M. J. Kowolik
Journal of Clinical Periodontology, 2001, Volume 28, Number 7, Page 663
Melvin G McInnis
Clinical Genetics, 1999, Volume 55, Number 4, Page 234
A. Helgason, G. Nicholson, K. Stefansson, and P. Donnelly
Annals of Human Genetics, 2003, Volume 67, Number 4, Page 281
Alan R. Templeton
Annual Review of Ecology and Systematics, 1999, Volume 30, Number 1, Page 23
Walter H. Moos and Kosta Steliou
Drug Development Research, 2000, Volume 49, Number 1, Page 1
T�mas Gudbjartsson, Thora J. J�nasd�ttir, �sgeir Thoroddsen, Gudmundur V. Einarsson, Gudr�n M. J�nsd�ttir, Kristleifur Kristj�nsson, Sverrir Hardarson, Kjartan Magn�sson, Jeffrey Gulcher, K�ri Stef�nsson, and Laufey T. �mundad�ttir
International Journal of Cancer, 2002, Volume 100, Number 4, Page 476
Struan F. A. Grant, Gudmar Thorleifsson, Michael L. Frigge, J�n Thorsteinsson, Brynja Gunnlaugsd�ttir, �rni J�n Geirsson, Magn�s Gudmundsson, Arn�r Vikingsson, Kristj�n Erlendsson, J�l�us Valsson, Helgi J�nsson, Daniel F. Gudbjartsson, K�ri Stef�nsson, Jeffrey R. Gulcher, and Kristj�n Steinsson
Arthritis & Rheumatism, 2001, Volume 44, Number 10, Page 2247

Comments (0)

Please log in or register to comment.