Genome studies: Genetics by numbers

被引:12
作者
Baker, Monya
机构
关键词
D O I
10.1038/451516a
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Genomewide association studies are starting to turn up increasingly reliable disease markers. Single nucleotide polymorphisms or SNPs, are located close to one another on chromosome 9 which are involved in the development of heart diseases in a group of individuals. Carrying two copies of any of the genes boosts a person's chance of developing heart disease by the same amount as smoking ten cigarettes a day. The effect is less than that brought on by diabetes or heavier smoking, but it is still one of the strongest risks so far identified by genomewide association studies. Having one copy of any of the wrong SNPs boosts risk by about 40%. Genomewide association studies find SNPs, single letter changes in the genome, that appear commonly and may correlate to more variation in nearby DNA. SNPs are not necessarily the causative mutations. They might not even be in genecoding or gene-controlling regions, and thus may not contribute, even indirectly, to risk. The heart- risk SNPs indicate only that the culprit is located within a long genomic region on chromosome 9.
引用
收藏
页码:516 / 518
页数:3
相关论文
共 15 条
[1]   A common variant associated with prostate cancer in European and African populations [J].
Amundadottir, Laufey T. ;
Sulem, Patrick ;
Gudmundsson, Julius ;
Helgason, Agnar ;
Baker, Adam ;
Agnarsson, Bjarni A. ;
Sigurdsson, Asgeir ;
Benediktsdottir, Kristrun R. ;
Cazier, Jean-Baptiste ;
Sainz, Jesus ;
Jakobsdottir, Margret ;
Kostic, Jelena ;
Magnusdottir, Droplaug N. ;
Ghosh, Shyamali ;
Agnarsson, Kari ;
Birgisdottir, Birgitta ;
Le Roux, Louise ;
Olafsdottir, Adalheidur ;
Blondal, Thorarinn ;
Andresdottir, Margret ;
Gretarsdottir, Olafia Svandis ;
Bergthorsson, Jon T. ;
Gudbjartsson, Daniel ;
Gylfason, Arnaldur ;
Thorleifsson, Gudmar ;
Manolescu, Andrei ;
Kristjansson, Kristleifur ;
Geirsson, Gudmundur ;
Isaksson, Helgi ;
Douglas, Julie ;
Johansson, Jan-Erik ;
Balter, Katarina ;
Wiklund, Fredrik ;
Montie, James E. ;
Yu, Xiaoying ;
Suarez, Brian K. ;
Ober, Carole ;
Cooney, Kathleen A. ;
Gronberg, Henrik ;
Catalona, William J. ;
Einarsson, Gudmundur V. ;
Barkardottir, Rosa B. ;
Gulcher, Jeffrey R. ;
Kong, Augustine ;
Thorsteinsdottir, Unnur ;
Stefansson, Kari .
NATURE GENETICS, 2006, 38 (06) :652-658
[2]   Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls [J].
Burton, Paul R. ;
Clayton, David G. ;
Cardon, Lon R. ;
Craddock, Nick ;
Deloukas, Panos ;
Duncanson, Audrey ;
Kwiatkowski, Dominic P. ;
McCarthy, Mark I. ;
Ouwehand, Willem H. ;
Samani, Nilesh J. ;
Todd, John A. ;
Donnelly, Peter ;
Barrett, Jeffrey C. ;
Davison, Dan ;
Easton, Doug ;
Evans, David ;
Leung, Hin-Tak ;
Marchini, Jonathan L. ;
Morris, Andrew P. ;
Spencer, Chris C. A. ;
Tobin, Martin D. ;
Attwood, Antony P. ;
Boorman, James P. ;
Cant, Barbara ;
Everson, Ursula ;
Hussey, Judith M. ;
Jolley, Jennifer D. ;
Knight, Alexandra S. ;
Koch, Kerstin ;
Meech, Elizabeth ;
Nutland, Sarah ;
Prowse, Christopher V. ;
Stevens, Helen E. ;
Taylor, Niall C. ;
Walters, Graham R. ;
Walker, Neil M. ;
Watkins, Nicholas A. ;
Winzer, Thilo ;
Jones, Richard W. ;
McArdle, Wendy L. ;
Ring, Susan M. ;
Strachan, David P. ;
Pembrey, Marcus ;
Breen, Gerome ;
St Clair, David ;
Caesar, Sian ;
Gordon-Smith, Katherine ;
Jones, Lisa ;
Fraser, Christine ;
Green, Elain K. .
NATURE, 2007, 447 (7145) :661-678
[3]   Admixture mapping identifies 8q24 as a prostate cancer risk locus in African-American men [J].
Freedman, Matthew L. ;
Haiman, Christopher A. ;
Patterson, Nick ;
McDonald, Gavin J. ;
Tandon, Arti ;
Waliszewska, Alicja ;
Penney, Kathryn ;
Steen, Robert G. ;
Ardlie, Kristin ;
John, Esther M. ;
Clakley-Girvan, Ingrid ;
Whitternore, Alice S. ;
Cooney, Kathleen A. ;
Ingles, Sue A. ;
Altshuler, David ;
Henderson, Brian E. ;
Reich, David .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2006, 103 (38) :14068-14073
[4]   Studies of association of variants near the HHEX, CDKN2A/B, and IGF2BP2 genes with type 2 diabetes and impaired insulin release in 10,705 Danish subjects -: Validation and extension of genome-wide association studies [J].
Grarup, Niels ;
Rose, Chrisian S. ;
Andersson, Ehm A. ;
Andersen, Gitte ;
Nielsen, Arne L. ;
Albrechtsen, Anders ;
Clausen, Jesper O. ;
Rasmussen, Signe S. ;
Jorgensen, Torben ;
Sandbaek, Annelli ;
Lauritzen, Torsten ;
Schmitz, Ole ;
Hansen, Torben ;
Pedersen, Oluf .
DIABETES, 2007, 56 (12) :3105-3111
[5]   A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1 [J].
Hampe, Jochen ;
Franke, Andre ;
Rosenstiel, Philip ;
Till, Andreas ;
Teuber, Markus ;
Huse, Klaus ;
Albrecht, Mario ;
Mayr, Gabriele ;
De La Vega, Francisco M. ;
Briggs, Jason ;
Guenther, Simone ;
Prescott, Natalie J. ;
Onnie, Clive M. ;
Haesler, Robert ;
Sipos, Bence ;
Foelsch, Ulrich R. ;
Lengauer, Thomas ;
Platzer, Matthias ;
Mathew, Christopher G. ;
Krawczak, Michael ;
Schreiber, Stefan .
NATURE GENETICS, 2007, 39 (02) :207-211
[6]  
HELGADOTTIR A, 2008, NATURE GENET, DOI DOI 10.1038/NG.75
[7]   A common variant on chromosome 9p21 affects the risk of myocardial infarction [J].
Helgadottir, Anna ;
Thorleifsson, Gudmar ;
Manolescu, Andrei ;
Gretarsdottir, Solveig ;
Blondal, Thorarinn ;
Jonasdottir, Aslaug ;
Jonasdottir, Adalbjorg ;
Sigurdsson, Asgeir ;
Baker, Adam ;
Palsson, Arnar ;
Masson, Gisli ;
Gudbjartsson, Daniel F. ;
Magnusson, Kristinn P. ;
Andersen, Karl ;
Levey, Allan I. ;
Backman, Valgerdur M. ;
Matthiasdottir, Sigurborg ;
Jonsdottir, Thorbjorg ;
Palsson, Stefan ;
Einarsdottir, Helga ;
Gunnarsdottir, Steinunn ;
Gylfason, Arnaldur ;
Vaccarino, Viola ;
Hooper, W. Craig ;
Reilly, Muredach P. ;
Granger, Christopher B. ;
Austin, Harland ;
Rader, Daniel J. ;
Shah, Svati H. ;
Quyyumi, Arshed A. ;
Gulcher, Jeffrey R. ;
Thorgeirsson, Gudmundur ;
Thorsteinsdottir, Unnur ;
Kong, Augustine ;
Stefansson, Kari .
SCIENCE, 2007, 316 (5830) :1491-1493
[8]  
KATHIRESAN S, 2008, NATURE GENET, DOI DOI 10.1038/NG.75
[9]   p16INK4a induces an age-dependent decline in islet regenerative potential [J].
Krishnamurthy, Janakiraman ;
Ramsey, Matthew R. ;
Ligon, Keith L. ;
Torrice, Chad ;
Koh, Angela ;
Bonner-Weir, Susan ;
Sharpless, Norman E. .
NATURE, 2006, 443 (7110) :453-457
[10]   A common allele on chromosome 9 associated with coronary heart disease [J].
McPherson, Ruth ;
Pertsemlidis, Alexander ;
Kavaslar, Nihan ;
Stewart, Alexandre F. R. ;
Roberts, Robert ;
Cox, David R. ;
Hinds, David A. ;
Pennacchio, Len A. ;
Tybjaerg-Hansen, Anne ;
Folsom, Aaron R. ;
Boerwinkle, Eric ;
Hobbs, Helen H. ;
Cohen, Jonathan C. .
SCIENCE, 2007, 316 (5830) :1488-1491