Login to MyKarger

New to MyKarger? Click here to sign up.

Login with Facebook

Forgot Password? Reset your password

Authors, Editors, Reviewers

For Manuscript Submission, Check or Review Login please go to Submission Websites List.

Submission Websites List

Institutional Login

For the academic login, please select your country in the dropdown list. You will be redirected to verify your credentials.

Journal Mobile Options
Table of Contents
Vol. 72, No. 1, 2011
Issue release date: September 2011
Section title: Original Paper
Free Access
Hum Hered 2011;72:35–44

A Geographic Cline of Skull and Brain Morphology among Individuals of European Ancestry

Bakken T.E.a, c · Dale A.M.d, e · Schork N.J.a, b · for the Alzheimer’s Disease Neuroimaging Initiative
aThe Scripps Translational Science Institute, bDepartment of Molecular and Experimental Medicine, The Scripps Research Institute, and cNeurosciences Graduate Program and Departments of dNeurosciences and eRadiology, University of California, San Diego, La Jolla, Calif., USA
email Corresponding Author

Nicholas J. Schork, PhD

The Scripps Research Institute

The Scripps Translational Science Institute

3344 North Torrey Pines Court, Suite 300, La Jolla, CA 92037 (USA)

Tel. +1 858 554 5705, E-Mail nschork@scripps.edu


  1. Panizzon MS, Fennema-Notestine C, Eyler LT, Jernigan TL, Prom-Wormley E, Neale M, Jacobson K, Lyons MJ, Grant MD, Franz CE, Xian H, Tsuang M, Fischl B, Seidman L, Dale A, Kremen WS: Distinct genetic influences on cortical surface area and cortical thickness. Cereb Cortex 2009;19:2728–2735.
    External Resources
  2. Joyner AH, Roddey JC, Bloss CS, Bakken TE, Rimol LM, Melle I, Agartz I, Djurovic S, Topol EJ, Schork NJ, Andreassen OA, Dale AM: A common MECP2 haplotype associates with reduced cortical surface area in humans in two independent populations. Proc Natl Acad Sci USA 2009;106:15483–15488.
  3. Rimol LM, Agartz I, Djurovic S, Brown AA, Roddey JC, Kahler AK, Mattingsdal M, Athanasiu L, Joyner AH, Schork NJ, Halgren E, Sundet K, Melle I, Dale AM, Andreassen OA: Sex-dependent association of common variants of microcephaly genes with brain structure. Proc Natl Acad Sci USA 2010;107:384–388.
  4. Schumann CM, Bloss CS, Barnes CC, Wideman GM, Carper RA, Akshoomoff N, Pierce K, Hagler D, Schork N, Lord C, Courchesne E: Longitudinal magnetic resonance imaging study of cortical development through early childhood in autism. J Neurosci 2010;30:4419–4427.
  5. Brans R, van Haren N, van Baal G, Schnack H, Kahn R, Pol H: Heritability of changes in brain volume over time in twin pairs discordant for schizophrenia. Arch Gen Psychiatry 2008;65:1259.
    External Resources
  6. Van Essen DC, Dierker D, Snyder AZ, Raichle ME, Reiss AL, Korenberg J: Symmetry of cortical folding abnormalities in Williams syndrome revealed by surface-based analyses. J Neurosci 2006;26:5470–5483.
  7. White NS, Alkire MT, Haier RJ: A voxel-based morphometric study of nondemented adults with Down syndrome. Neuroimage 2003;20:393–403.
    External Resources
  8. Howells WW: Cranial Variation in Man: A Study by Multivariate Analysis of Patterns of Difference among Recent Human Populations. Papers of the Peabody Museum of Archaeology and Ethnology No. 67. Cambridge, MA, Harvard University Press, 1973.
  9. Manica A, Amos W, Balloux F, Hanihara T: The effect of ancient population bottlenecks on human phenotypic variation. Nature 2007;448:346–348.
  10. Martínez-Abadías N, González-José R, González-Martín A, Van der Molen S, Talavera A, Hernández P, Hernández M: Phenotypic evolution of human craniofacial morphology after admixture: a geometric morphometrics approach. Am J Phys Anthropol 2006;129:387–398.
    External Resources
  11. Relethford J: Population-specific deviations of global human craniometric variation from a neutral model. Am J Phys Anthropol 2010;142:105–111.
    External Resources
  12. Martínez-Abadías N, Paschetta C, de Azevedo S, Esparza M, González-José R: Developmental and genetic constraints on neurocranial globularity: insights from analyses of deformed skulls and quantitative genetics. Evol Biol 2009;36:37–56.
    External Resources
  13. Hallgrímsson B, Lieberman DE, Liu W, Ford-Hutchinson AF, Jirik FR: Epigenetic interactions and the structure of phenotypic variation in the cranium. Evol Dev 2007;9:76–91.
  14. Novembre J, Johnson T, Bryc K, Kutalik Z, Boyko AR, Auton A, Indap A, King KS, Bergmann S, Nelson MR, Stephens M, Bustamante CD: Genes mirror geography within Europe. Nature 2008;456:98–101.
  15. Lao O, Lu TT, Nothnagel M, Junge O, Freitag-Wolf S, Caliebe A, Balascakova M, Bertranpetit J, Bindoff LA, Comas D, Holmlund G, Kouvatsi A, Macek M, Mollet I, Parson W, Palo J, Ploski R, Sajantila A, Tagliabracci A, Gether U, Werge T, Rivadeneira F, Hofman A, Uitterlinden AG, Gieger C, Wichmann HE, Ruther A, Schreiber S, Becker C, Nurnberg P, Nelson MR, Krawczak M, Kayser M: Correlation between genetic and geographic structure in Europe. Curr Biol 2008;18:1241–1248.
  16. Nothnagel M, Lu TT, Kayser M, Krawczak M: Genomic and geographic distribution of SNP-defined runs of homozygosity in Europeans. Hum Mol Genet 2010;19:2927–2935.
  17. Sokal RR, Uytterschaut H: Cranial variation in European populations: a spatial autocorrelation study at three time periods. Am J Phys Anthropol 1987;74:21–38.
  18. Sokal RR, Uytterschaut H, Rosing FW, Schwidetzky I: A classification of European skulls from three time periods. Am J Phys Anthropol 1987;74:1–20.
  19. Hanihara T, Ishida H: Os incae: variation in frequency in major human population groups. J Anat 2001;198:137–152.
  20. Hanihara T, Ishida H: Metric dental variation of major human populations. Am J Phys Anthropol 2005;128:287–298.
    External Resources
  21. Hubbe M, Hanihara T, Harvati K: Climate signatures in the morphological differentiation of worldwide modern human populations. Anat Rec 2009;292:1720–1733.
    External Resources
  22. R: A Language and Environment for Statistical Computing, version 2.11.1. Vienna, R Foundation for Statistical Computing, 2010.
  23. Hewitt JE, Legendre P, McArdle BH, Thrush SF, Bellehumeur C, Lawrie SM: Identifying relationships between adult and juvenile bivalves at different spatial scales. J Exp Mar Biol Ecol 1997;216:77–98.
  24. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC: Plink: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007;81:559–575.
  25. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D: Principal components analysis corrects for stratification in genome-wide association studies. Nature Genet 2006;38:904–909.
  26. Need AC, Kasperaviciute D, Cirulli ET, Goldstein DB: A genome-wide genetic signature of Jewish ancestry perfectly separates individuals with and without full Jewish ancestry in a large random sample of European Americans. Genome Biol 2009;10:R7.
    External Resources
  27. Price AL, Butler J, Patterson N, Capelli C, Pascali VL, Scarnicci F, Ruiz-Linares A, Groop L, Saetta AA, Korkolopoulou P, Seligsohn U, Waliszewska A, Schirmer C, Ardlie K, Ramos A, Nemesh J, Arbeitman L, Goldstein DB, Reich D, Hirschhorn JN: Discerning the ancestry of European Americans in genetic association studies. PLoS Genet 2008;4:e236.
  28. Nelis M, Esko T, Magi R, Zimprich F, Zimprich A, Toncheva D, Karachanak S, Piskackova T, Balascak I, Peltonen L, Jakkula E, Rehnstrom K, Lathrop M, Heath S, Galan P, Schreiber S, Meitinger T, Pfeufer A, Wichmann HE, Melegh B, Polgar N, Toniolo D, Gasparini P, D’Adamo P, Klovins J, Nikitina-Zake L, Kucinskas V, Kasnauskiene J, Lubinski J, Debniak T, Limborska S, Khrunin A, Estivill X, Rabionet R, Marsal S, Julia A, Antonarakis SE, Deutsch S, Borel C, Attar H, Gagnebin M, Macek M, Krawczak M, Remm M, Metspalu A: Genetic structure of Europeans: a view from the North-East. PLoS One 2009;4:e5472.
    External Resources
  29. Seldin MF, Shigeta R, Villoslada P, Selmi C, Tuomilehto J, Silva G, Belmont JW, Klareskog L, Gregersen PK: European population substructure: clustering of northern and southern populations. PLoS Genet 2006;2:e143.
    External Resources
  30. Silventoinen K, Sammalisto S, Perola M, Boomsma DI, Cornes BK, Davis C, Dunkel L, De Lange M, Harris JR, Hjelmborg JV, Luciano M, Martin NG, Mortensen J, Nistico L, Pedersen NL, Skytthe A, Spector TD, Stazi MA, Willemsen G, Kaprio J: Heritability of adult body height: a comparative study of twin cohorts in eight countries. Twin Res 2003;6:399–408.
  31. Menozzi P, Piazza A, Cavalli-Sforza L: Synthetic maps of human gene frequencies in Europeans. Science 1978;201:786–792.
  32. Fix AG: Gene frequency clines produced by kin-structured founder effects. Hum Biol 1997;69:663–673.
  33. Pinhasi R, von Cramon-Taubadel N: Craniometric data supports demic diffusion model for the spread of agriculture into Europe. PLoS One 2009;4:e6747.
    External Resources
  34. Bramanti B, Thomas MG, Haak W, Unterlaender M, Jores P, Tambets K, Antanaitis-Jacobs I, Haidle MN, Jankauskas R, Kind CJ, Lueth F, Terberger T, Hiller J, Matsumura S, Forster P, Burger J: Genetic discontinuity between local hunter-gatherers and central Europe’s first farmers. Science 2009;326:137–140.
  35. Haak W, Balanovsky O, Sanchez JJ, Koshel S, Zaporozhchenko V, Adler CJ, Der Sarkissian CS, Brandt G, Schwarz C, Nicklisch N, Dresely V, Fritsch B, Balanovska E, Villems R, Meller H, Alt KW, Cooper A: Ancient DNA from European early Neolithic farmers reveals their near eastern affinities. PLoS Biol 2010;8:e1000536.
    External Resources
  36. Battaglia V, Fornarino S, Al-Zahery N, Olivieri A, Pala M, Myres NM, King RJ, Rootsi S, Marjanovic D, Primorac D: Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe. Eur J Hum Genet 2008;17:820–830.
    External Resources
  37. Zalloua PA, Platt DE, El Sibai M, Khalife J, Makhoul N, Haber M, Xue Y, Izaabel H, Bosch E, Adams SM, Arroyo E, Lopez-Parra AM, Aler M, Picornell A, Ramon M, Jobling MA, Comas D, Bertranpetit J, Wells RS, Tyler-Smith C: Identifying genetic traces of historical expansions: Phoenician footprints in the Mediterranean. Am J Hum Genet 2008;83:633–642.
  38. Helgason A, Hickey E, Goodacre S, Bosnes V, Stefansson K, Ward R, Sykes B: MtDNA and the islands of the North Atlantic: estimating the proportions of Norse and Gaelic ancestry. Am J Hum Genet 2001;68:723–737.
  39. Roewer L, Croucher PJ, Willuweit S, Lu TT, Kayser M, Lessig R, de Knijff P, Jobling MA, Tyler-Smith C, Krawczak M: Signature of recent historical events in the European Y-chromosomal STR haplotype distribution. Hum Genet 2005;116:279–291.
  40. Itan Y, Powell A, Beaumont MA, Burger J, Thomas MG: The origins of lactase persistence in Europe. PLoS Comput Biol 2009;5:e1000491.
    External Resources
  41. Fix AG: Gene frequency clines in Europe: demic diffusion or natural selection? J Royal Anthropol Inst 1996;2:625–643.
    External Resources
  42. Atzmon G, Hao L, Pe’er I, Velez C, Pearlman A, Palamara PF, Morrow B, Friedman E, Oddoux C, Burns E, Ostrer H: Abraham’s children in the genome era: major Jewish diaspora populations comprise distinct genetic clusters with shared middle eastern ancestry. Am J Hum Genet 2010;86:850–859.
  43. Behar DM, Yunusbayev B, Metspalu M, Metspalu E, Rosset S, Parik Jr, Rootsi S, Chaubey G, Kutuev I, Yudkovsky G, Khusnutdinova EK, Balanovsky O, Semino O, Pereira L, Comas D, Gurwitz D, Bonne-Tamir B, Parfitt T, Hammer MF, Skorecki K, Villems R: The genome-wide structure of the Jewish people. Nature 2010;466:238–242.
  44. Kopelman NM, Stone L, Wang C, Gefel D, Feldman M, Hillel J, Rosenberg N: Genomic microsatellites identify shared Jewish ancestry intermediate between Middle Eastern and European populations. BMC Genet 2009;10:1–14.
    External Resources
  45. Ruff CB, Trinkaus E, Holliday TW: Body mass and encephalization in Pleistocene homo. Nature 1997;387:173–176.
  46. Weaver T, Roseman C, Stringer C: Were neandertal and modern human cranial differences produced by natural selection or genetic drift? J Hum Evol 2007;53:135–145.
    External Resources
  47. Deary IJ, Penke L, Johnson W: The neuroscience of human intelligence differences. Nature Rev Neurosci 2010;11:201–211.
  48. Beals KL, Smith CL, Dodd SM: Brain size, cranial morphology, climate, and time machines. Curr Anthropol 1984;25:301.
    External Resources
  49. Gilbert SL, Dobyns WB, Lahn BT: Genetic links between brain development and brain evolution. Nature Rev Genet 2005;6:581–590.