European population substructure: Clustering of northern and southern populations

被引:186
作者
Seldin, Michael F. [1 ]
Shigeta, Russell
Villoslada, Pablo
Selmi, Carlo
Tuomilehto, Jaakko
Silva, Gabriel
Belmont, John W.
Klareskog, Lars
Gregersen, Peter K.
机构
[1] Univ Calif Davis, Rowe Program Human Genet, Dept Biol Chem, Davis, CA 95616 USA
[2] Univ Calif Davis, Rowe Program Human Genet, Dept Med, Davis, CA 95616 USA
[3] Univ Navarra, Ctr Appl Med Res, E-31080 Pamplona, Spain
[4] Univ Milan, San Paolo Sch Med, Dept Med Surg & Dent, Milan, Italy
[5] Univ Calif Davis, Dept Med, Davis, CA 95616 USA
[6] Natl Publ Hlth Inst, Dept Epidemiol & Hlth Promot, Helsinki, Finland
[7] S Ostrobothnia Cent Hosp, Seinajoki, Finland
[8] Obras Sociales Hermano Pedro, Guatemala City, Guatemala
[9] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[10] Karolinska Univ Hosp, Stockholm, Sweden
[11] N Shore Long Isl Jewish Hlth Syst, Robert S Boas Ctr Gen & Human Genet, Feinstein Inst Med Res, Manhasset, NY USA
关键词
D O I
10.1371/journal.pgen.0020143
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Using a genome-wide single nucleotide polymorphism (SNP) panel, we observed population structure in a diverse group of Europeans and European Americans. Under a variety of conditions and tests, there is a consistent and reproducible distinction between "northern'' and "southern'' European population groups: most individual participants with southern European ancestry (Italian, Spanish, Portuguese, and Greek) have > 85% membership in the "southern'' population; and most northern, western, eastern, and central Europeans have > 90% in the "northern'' population group. Ashkenazi Jewish as well as Sephardic Jewish origin also showed > 85% membership in the "southern'' population, consistent with a later Mediterranean origin of these ethnic groups. Based on this work, we have developed a core set of informative SNP markers that can control for this partition in European population structure in a variety of clinical and genetic studies.
引用
收藏
页码:1339 / 1351
页数:13
相关论文
共 62 条
[1]   The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool [J].
Achilli, A ;
Rengo, C ;
Magri, C ;
Battaglia, V ;
Olivieri, A ;
Scozzari, R ;
Cruciani, F ;
Zeviani, M ;
Briem, E ;
Carelli, V ;
Moral, P ;
Dugoujon, JM ;
Roostalu, U ;
Loogväli, EL ;
Kivisild, T ;
Bandelt, HJ ;
Richards, M ;
Villems, R ;
Santachiara-Benerecetti, AS ;
Semino, O ;
Torroni, A .
AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 75 (05) :910-918
[2]  
[Anonymous], EXPLORING PREHISTORI
[3]   Mechanisms of disease: The effect of infections on susceptibility to autoimmune and allergic diseases [J].
Bach, JF .
NEW ENGLAND JOURNAL OF MEDICINE, 2002, 347 (12) :911-920
[4]   Population genetics - DNAs from the European Neolithic [J].
Barbujani, G. ;
Chikhi, L. .
HEREDITY, 2006, 97 (02) :84-85
[5]   Genetics and the population history of Europe [J].
Barbujani, G ;
Bertorelle, G .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2001, 98 (01) :22-25
[6]   Analytical Bayesian approach for assigning individuals to populations [J].
Baudouin, L ;
Piry, S ;
Cornuet, JM .
JOURNAL OF HEREDITY, 2004, 95 (03) :217-224
[7]   A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis [J].
Begovich, AB ;
Carlton, VEH ;
Honigberg, LA ;
Schrodi, SJ ;
Chokkalingam, AP ;
Alexander, HC ;
Ardlie, KG ;
Huang, QQ ;
Smith, AM ;
Spoerke, JM ;
Conn, MT ;
Chang, M ;
Chang, SYP ;
Saiki, RK ;
Catanese, JJ ;
Leong, DU ;
Garcia, VE ;
McAllister, LB ;
Jeffery, DA ;
Lee, AT ;
Batliwalla, F ;
Remmers, E ;
Criswell, LA ;
Seldin, MF ;
Kastner, DL ;
Amos, CI ;
Sninsky, JJ ;
Gregersen, PK .
AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 75 (02) :330-337
[8]  
BELKHIR K, 2001, GENETIX SOFTWARE WIN
[9]   Origins and evolution of the Europeans' genome: evidence from multiple microsatellite loci [J].
Belle, Elise M. S. ;
Landry, Pierre-Alexandre ;
Barbujani, Guido .
PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES, 2006, 273 (1594) :1595-1602
[10]   Genetic signatures of strong recent positive selection at the lactase gene [J].
Bersaglieri, T ;
Sabeti, PC ;
Patterson, N ;
Vanderploeg, T ;
Schaffner, SF ;
Drake, JA ;
Rhodes, M ;
Reich, DE ;
Hirschhorn, JN .
AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (06) :1111-1120