Genetic Structure of the Spanish Population

被引:45
作者
Gayan, Javier [1 ]
Galan, Jose J. [1 ]
Gonzalez-Perez, Antonio [1 ]
Eugenia Saez, Maria [1 ]
Teresa Martinez-Larrad, Maria [2 ]
Zabena, Carina [2 ]
Carmen Rivero, M. [1 ]
Salinas, Ana [1 ]
Ramirez-Lorca, Reposo [1 ]
Moron, Francisco J. [1 ]
Luis Royo, Jose [1 ]
Moreno-Rey, Concha [1 ]
Velasco, Juan [1 ]
Carrasco, Jose M. [1 ]
Molero, Eva [1 ]
Ochoa, Carolina [1 ]
Dolores Ochoa, Maria [1 ]
Gutierrez, Marta [1 ]
Reina, Mercedes [1 ]
Pascual, Rocio [1 ]
Romo-Astorga, Alejandro [1 ]
Luis Susillo-Gonzalez, Juan [1 ]
Vazquez, Enrique [1 ]
Real, Luis M. [1 ]
Ruiz, Agustin [1 ]
Serrano-Rios, Manuel [2 ]
机构
[1] Neocodex, Dept Struct Genom, Seville, Spain
[2] Hosp Clin San Carlos, Dept Internal Med 2, CIBER Diabet & Enfermedades Metab Asociadas CIBER, Madrid, Spain
来源
BMC GENOMICS | 2010年 / 11卷
关键词
COPY-NUMBER VARIATIONS; HUMAN GENOME; EUROPEAN POPULATIONS; HAPLOTYPE MAP; ASSOCIATION; PREVALENCE; DISEASE;
D O I
10.1186/1471-2164-11-326
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Background: Genetic admixture is a common caveat for genetic association analysis. Therefore, it is important to characterize the genetic structure of the population under study to control for this kind of potential bias. Results: In this study we have sampled over 800 unrelated individuals from the population of Spain, and have genotyped them with a genome-wide coverage. We have carried out linkage disequilibrium, haplotype, population structure and copy-number variation (CNV) analyses, and have compared these estimates of the Spanish population with existing data from similar efforts. Conclusions: In general, the Spanish population is similar to the Western and Northern Europeans, but has a more diverse haplotypic structure. Moreover, the Spanish population is also largely homogeneous within itself, although patterns of micro-structure may be able to predict locations of origin from distant regions. Finally, we also present the first characterization of a CNV map of the Spanish population. These results and original data are made available to the scientific community.
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页数:15
相关论文
共 33 条
[1]   GRR: graphical representation of relationship errors [J].
Abecasis, GR ;
Cherny, SS ;
Cookson, WOC ;
Cardon, LR .
BIOINFORMATICS, 2001, 17 (08) :742-743
[2]   A haplotype map of the human genome [J].
Altshuler, D ;
Brooks, LD ;
Chakravarti, A ;
Collins, FS ;
Daly, MJ ;
Donnelly, P ;
Gibbs, RA ;
Belmont, JW ;
Boudreau, A ;
Leal, SM ;
Hardenbol, P ;
Pasternak, S ;
Wheeler, DA ;
Willis, TD ;
Yu, FL ;
Yang, HM ;
Zeng, CQ ;
Gao, Y ;
Hu, HR ;
Hu, WT ;
Li, CH ;
Lin, W ;
Liu, SQ ;
Pan, H ;
Tang, XL ;
Wang, J ;
Wang, W ;
Yu, J ;
Zhang, B ;
Zhang, QR ;
Zhao, HB ;
Zhao, H ;
Zhou, J ;
Gabriel, SB ;
Barry, R ;
Blumenstiel, B ;
Camargo, A ;
Defelice, M ;
Faggart, M ;
Goyette, M ;
Gupta, S ;
Moore, J ;
Nguyen, H ;
Onofrio, RC ;
Parkin, M ;
Roy, J ;
Stahl, E ;
Winchester, E ;
Ziaugra, L ;
Shen, Y .
NATURE, 2005, 437 (7063) :1299-1320
[3]   Global distribution of genomic diversity underscores rich complex history of continental human populations [J].
Auton, Adam ;
Bryc, Katarzyna ;
Boyko, Adam R. ;
Lohmueller, Kirk E. ;
Novembre, John ;
Reynolds, Andy ;
Indap, Amit ;
Wright, Mark H. ;
Degenhardt, Jeremiah D. ;
Gutenkunst, Ryan N. ;
King, Karen S. ;
Nelson, Matthew R. ;
Bustamante, Carlos D. .
GENOME RESEARCH, 2009, 19 (05) :795-803
[4]   Haploview: analysis and visualization of LD and haplotype maps [J].
Barrett, JC ;
Fry, B ;
Maller, J ;
Daly, MJ .
BIOINFORMATICS, 2005, 21 (02) :263-265
[5]   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
[6]   A high-resolution survey of deletion polymorphism in the human genome [J].
Conrad, DF ;
Andrews, TD ;
Carter, NP ;
Hurles, ME ;
Pritchard, JK .
NATURE GENETICS, 2006, 38 (01) :75-81
[7]   Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection [J].
Crow, Yanick J. ;
Leitch, Andrea ;
Hayward, Bruce E. ;
Garner, Anna ;
Parmar, Rekha ;
Griffith, Elen ;
Ali, Manir ;
Semple, Colin ;
Aicardi, Jean ;
Babul-Hirji, Riyana ;
Baumann, Clarisse ;
Baxter, Peter ;
Bertini, Enrico ;
Chandler, Kate E. ;
Chitayat, David ;
Cau, Daniel ;
Dery, Catherine ;
Fazzi, Elisa ;
Goizet, Cyril ;
King, Mary D. ;
Klepper, Joerg ;
Lacombe, Didier ;
Lanzi, Giovanni ;
Lyall, Hermione ;
Martinez-Frias, Maria Luisa ;
Mathieu, Michele ;
McKeown, Carole ;
Monier, Anne ;
Oade, Yvette ;
Quarrell, Oliver W. ;
Rittey, Christopher D. ;
Rogers, R. Curtis ;
Sanchis, Amparo ;
Stephenson, John B. P. ;
Tacke, Uta ;
Till, Marianne ;
Tolmie, John L. ;
Tomlin, Pam ;
Voit, Thomas ;
Weschke, Bernhard ;
Woods, C. Geoffrey ;
Lebon, Pierre ;
Bonthron, David T. ;
Ponting, Chris P. ;
Jackson, Andrew P. .
NATURE GENETICS, 2006, 38 (08) :910-916
[8]   FstSNP-HapMap3: a database of SNPs with high population differentiation for HapMap3 [J].
Duan, Shiwei ;
Zhang, Wei ;
Cox, Nancy Jean ;
Dolan, Mary Eileen .
BIOINFORMATION, 2008, 3 (03) :139-141
[9]   Detecting the number of clusters of individuals using the software STRUCTURE: a simulation study [J].
Evanno, G ;
Regnaut, S ;
Goudet, J .
MOLECULAR ECOLOGY, 2005, 14 (08) :2611-2620
[10]   A second generation human haplotype map of over 3.1 million SNPs [J].
Frazer, Kelly A. ;
Ballinger, Dennis G. ;
Cox, David R. ;
Hinds, David A. ;
Stuve, Laura L. ;
Gibbs, Richard A. ;
Belmont, John W. ;
Boudreau, Andrew ;
Hardenbol, Paul ;
Leal, Suzanne M. ;
Pasternak, Shiran ;
Wheeler, David A. ;
Willis, Thomas D. ;
Yu, Fuli ;
Yang, Huanming ;
Zeng, Changqing ;
Gao, Yang ;
Hu, Haoran ;
Hu, Weitao ;
Li, Chaohua ;
Lin, Wei ;
Liu, Siqi ;
Pan, Hao ;
Tang, Xiaoli ;
Wang, Jian ;
Wang, Wei ;
Yu, Jun ;
Zhang, Bo ;
Zhang, Qingrun ;
Zhao, Hongbin ;
Zhao, Hui ;
Zhou, Jun ;
Gabriel, Stacey B. ;
Barry, Rachel ;
Blumenstiel, Brendan ;
Camargo, Amy ;
Defelice, Matthew ;
Faggart, Maura ;
Goyette, Mary ;
Gupta, Supriya ;
Moore, Jamie ;
Nguyen, Huy ;
Onofrio, Robert C. ;
Parkin, Melissa ;
Roy, Jessica ;
Stahl, Erich ;
Winchester, Ellen ;
Ziaugra, Liuda ;
Altshuler, David ;
Shen, Yan .
NATURE, 2007, 449 (7164) :851-U3