Skip to main content
SpringerLink
Log in

Global Landscapes of Human Phenotypic Variation in Inherited Traits

  • Chapter
  • First Online:
Evolution of the Human Genome I

Part of the book series: Evolutionary Studies ((EVOLUS))

Abstract

Modern humans exhibit phenotypic variation among individuals, and phenotypes in some physical and physiological traits are highly differentiated between populations. This chapter focuses on genetic polymorphisms related to phenotypes that show interpopulation differentiation, which have traditionally attracted the attention of both anthropologists and human geneticists. Owing to the recent development of DNA technology, we have obtained powerful tools for use in identifying the genetic polymorphisms associated with phenotypes. In addition, the availability of genome diversity data associated with global populations has enabled us to identify the signatures of the local genetic adaptations that are engraved in our genomes. Using data associated with current phenotypic variation in humans, we can elucidate the history of human adaptation in response to the selective pressures of various environments.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution

Institutional subscriptions

References

  • Adhikari K et al (2015) A genome-wide association study identifies multiple loci for variation in human ear morphology. Nat Commun 6:7500

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Akey JM, Wang H, Xiong M, Wu H, Liu W, Shriver MD, Jin L (2001) Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population. Hum Genet 108(6):516–520

    Article  CAS  PubMed  Google Scholar 

  • Amundadottir L et al (2009) Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer. Nat Genet 41(9):986–990

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Aoki K (2002) Sexual selection as a cause of human skin colour variation: Darwin’s hypothesis revisited. Ann Hum Biol 29(6):589–608

    Article  PubMed  Google Scholar 

  • Arifuzzaman M et al (2011) Individuals with Le(a+b−) blood group have increased susceptibility to symptomatic vibrio cholerae O1 infection. PLoS Negl Trop Dis 5(12):e1413

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Band G et al (2013) Imputation-based meta-analysis of severe malaria in three African populations. PLoS Genet 9(5):e1003509

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Barbalic M et al (2010) Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels. Hum Mol Genet 19(9):1863–1872

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Beja-Pereira A et al (2003) Gene-culture coevolution between cattle milk protein genes and human lactase genes. Nat Genet 35(4):311–313

    Article  CAS  PubMed  Google Scholar 

  • Berndt SI et al (2013) Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet 45(5):501–512

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Bersaglieri T, Sabeti PC, Patterson N, Vanderploeg T, Schaffner SF, Drake JA, Rhodes M, Reich DE, Hirschhorn JN (2004) Genetic signatures of strong recent positive selection at the lactase gene. Am J Hum Genet 74(6):1111–1120

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Blackwell CC, Jonsdottir K, Hanson MF, Weir DM (1986a) Non-secretion of ABO blood group antigens predisposing to infection by Haemophilus influenzae. Lancet 2(8508):687

    Article  CAS  PubMed  Google Scholar 

  • Blackwell CC, Jonsdottir K, Hanson M, Todd WT, Chaudhuri AK, Mathew B, Brettle RP, Weir DM (1986b) Non-secretion of ABO antigens predisposing to infection by Neisseria meningitidis and Streptococcus pneumoniae. Lancet 2(8501):284–285

    Article  CAS  PubMed  Google Scholar 

  • Blackwell CC, Dundas S, James VS, Mackenzie DA, Braun JM, Alkout AM, Todd WT, Elton RA, Weir DM (2002) Blood group and susceptibility to disease caused by Escherichia coli O157. J Infect Dis 185(3):393–396

    Article  PubMed  Google Scholar 

  • Boyko AR (2011) The domestic dog: man’s best friend in the genomic era. Genome Biol 12(2):216

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Brockschmidt FF et al (2011) Susceptibility variants on chromosome 7p21.1 suggest HDAC9 as a new candidate gene for male-pattern baldness. Br J Dermatol 165(6):1293–1302

    Article  CAS  PubMed  Google Scholar 

  • Calafell F, Roubinet F, Ramirez-Soriano A, Saitou N, Bertranpetit J, Blancher A (2008) Evolutionary dynamics of the human ABO gene. Hum Genet 124(2):123–135

    Article  PubMed  Google Scholar 

  • Chambers JC et al (2011) Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Nat Genet 43(11):1131–1138

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Chery C et al (2013) Gastric intrinsic factor deficiency with combined GIF heterozygous mutations and FUT2 secretor variant. Biochimie 95(5):995–1001

    Article  CAS  PubMed  Google Scholar 

  • Claes P et al (2014) Modeling 3D facial shape from DNA. PLoS Genet 10(3):e1004224

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Clemens JD et al (1989) ABO blood groups and cholera: new observations on specificity of risk and modification of vaccine efficacy. J Infect Dis 159(4):770–773

    Article  CAS  PubMed  Google Scholar 

  • Clemente FJ et al (2014) A selective sweep on a deleterious mutation in CPT1A in Arctic populations. Am J Hum Genet 95(5):584–589

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Currat M, Trabuchet G, Rees D, Perrin P, Harding RM, Clegg JB, Langaney A, Excoffier L (2002) Molecular analysis of the beta-globin gene cluster in the Niokholo Mandenka population reveals a recent origin of the beta(S) Senegal mutation. Am J Hum Genet 70(1):207–223

    Article  CAS  PubMed  Google Scholar 

  • Daub JT, Hofer T, Cutivet E, Dupanloup I, Quintana-Murci L, Robinson-Rechavi M, Excoffier L (2013) Evidence for polygenic adaptation to pathogens in the human genome. Mol Biol Evol 30(7):1544–1558

    Article  CAS  PubMed  Google Scholar 

  • Dichgans M et al (2014) Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. Stroke 45(1):24–36

    Article  CAS  PubMed  Google Scholar 

  • Eastlund T (1998) The histo-blood group ABO system and tissue transplantation. Transfusion 38(10):975–988

    Article  CAS  PubMed  Google Scholar 

  • Edenberg HJ (2000) Regulation of the mammalian alcohol dehydrogenase genes. Prog Nucleic Acid Res Mol Biol 64:295–341

    Article  CAS  PubMed  Google Scholar 

  • Edgren G, Hjalgrim H, Rostgaard K, Norda R, Wikman A, Melbye M, Nyren O (2010) Risk of gastric cancer and peptic ulcers in relation to ABO blood type: a cohort study. Am J Epidemiol 172(11):1280–1285

    Article  PubMed  Google Scholar 

  • Edwards M, Bigham A, Tan J, Li S, Gozdzik A, Ross K, Jin L, Parra EJ (2010) Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation. PLoS Genet 6(3):e1000867

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Ellis JA, Stebbing M, Harrap SB (2001) Polymorphism of the androgen receptor gene is associated with male pattern baldness. J Invest Dermatol 116(3):452–455

    Article  CAS  PubMed  Google Scholar 

  • Enattah NS, Sahi T, Savilahti E, Terwilliger JD, Peltonen L, Jarvela I (2002) Identification of a variant associated with adult-type hypolactasia. Nat Genet 30(2):233–237

    Article  CAS  PubMed  Google Scholar 

  • Eriksson N et al (2010) Web-based, participant-driven studies yield novel genetic associations for common traits. PLoS Genet 6(6):e1000993

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Ferrer-Admetlla A, Sikora M, Laayouni H, Esteve A, Roubinet F, Blancher A, Calafell F, Bertranpetit J, Casals F (2009) A natural history of FUT2 polymorphism in humans. Mol Biol Evol 26(9):1993–2003

    Article  CAS  PubMed  Google Scholar 

  • Franbourg A, Hallegot P, Baltenneck F, Toutain C, Leroy F (2003) Current research on ethnic hair. J Am Acad Dermatol 48(6 Suppl):S115–S119

    Article  CAS  PubMed  Google Scholar 

  • Frank J et al (2012) Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster. Addict Biol 17(1):171–180

    Article  CAS  PubMed  Google Scholar 

  • Franke A et al (2010) Genome-wide meta-analysis increases to 71 the number of confirmed Crohn’s disease susceptibility loci. Nat Genet 42(12):1118–1125

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Fujimoto A et al (2008) A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness. Hum Mol Genet 17(6):835–843

    Article  CAS  PubMed  Google Scholar 

  • Fumagalli M et al. (2011) Signatures of environmental genetic adaptation pinpoint pathogens as the main selective pressure through human evolution. PLOS Genet 7:e1002355

    Google Scholar 

  • Fumagalli M et al (2015) Greenlandic Inuit show genetic signatures of diet and climate adaptation. Science 349(6254):1343–1347

    Article  CAS  PubMed  Google Scholar 

  • Glass RI et al (1985) Predisposition for cholera of individuals with O blood group. Possible evolutionary significance. Am J Epidemiol 121(6):791–796

    Article  CAS  PubMed  Google Scholar 

  • Goedde HW, Agarwal DP, Harada S, Meier-Tackmann D, Ruofu D, Bienzle U, Kroeger A, Hussein L (1983) Population genetic studies on aldehyde dehydrogenase isozyme deficiency and alcohol sensitivity. Am J Hum Genet 35(4):769–772

    CAS  PubMed  PubMed Central  Google Scholar 

  • Goldman D, Enoch MA (1990) Genetic epidemiology of ethanol metabolic enzymes: a role for selection. World Rev Nutr Diet 63:143–160

    Article  CAS  PubMed  Google Scholar 

  • Grossman SR et al (2010) A composite of multiple signals distinguishes causal variants in regions of positive selection. Science 327(5967):883–886

    Article  CAS  PubMed  Google Scholar 

  • Grossman SR et al (2013) Identifying recent adaptations in large-scale genomic data. Cell 152(4):703–713

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Guo J et al (2014) Variation and signatures of selection on the human face. J Hum Evol 75:143–152

    Google Scholar 

  • Hamblin MT, Di Rienzo A (2000) Detection of the signature of natural selection in humans: evidence from the Duffy blood group locus. Am J Hum Genet 66(5):1669–1679

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Hamilton JB (1951) Patterned loss of hair in man; types and incidence. Ann N Y Acad Sci 53(3):708–728

    Article  CAS  PubMed  Google Scholar 

  • Han J et al (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet 4(5):e1000074

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Hancock AM, Witonsky DB, Gordon AS, Eshel G, Pritchard JK, Coop G, Di Rienzo A (2008) Adaptations to climate in candidate genes for common metabolic disorders. PLoS Genet 4(2):e32

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Hancock AM et al (2011) Adaptations to climate-mediated selective pressures in humans. PLoS Genet 7(4):e1001375

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Harada S, Misawa S, Agarwal DP, Goedde HW (1980) Liver alcohol dehydrogenase and aldehyde dehydrogenase in the Japanese: isozyme variation and its possible role in alcohol intoxication. Am J Hum Genet 32(1):8–15

    CAS  PubMed  PubMed Central  Google Scholar 

  • Harris JB et al (2005) Blood group, immunity, and risk of infection with Vibrio cholerae in an area of endemicity. Infect Immun 73(11):7422–7427

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Hazra A, Kraft P, Selhub J, Giovannucci EL, Thomas G, Hoover RN, Chanock SJ, Hunter DJ (2008) Common variants of FUT2 are associated with plasma vitamin B12 levels. Nat Genet 40(10):1160–1162

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Hazra A, Kraft P, Lazarus R, Chen C, Chanock SJ, Jacques P, Selhub J, Hunter DJ (2009) Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway. Hum Mol Genet 18(23):4677–4687

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Hedrick PW, Whittam TS, Parham P (1991) Heterozygosity at individual amino acid sites: extremely high levels for HLA-A and -B genes. Proc Natl Acad Sci U S A 88(13):5897–5901

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Heit JA, Armasu SM, Asmann YW, Cunningham JM, Matsumoto ME, Petterson TM, De Andrade M (2012) A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q. J Thromb Haemost 10(8):1521–1531

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Hillmer AM et al (2008) Susceptibility variants for male-pattern baldness on chromosome 20p11. Nat Genet 40(11):1279–1281

    Article  CAS  PubMed  Google Scholar 

  • Hillmer AM et al (2009) Recent positive selection of a human androgen receptor/ectodysplasin A2 receptor haplotype and its relationship to male pattern baldness. Hum Genet 126(2):255–264

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Huang L, Li Y, Singleton AB, Hardy JA, Abecasis G, Rosenberg NA, Scheet P (2009) Genotype-imputation accuracy across worldwide human populations. Am J Hum Genet 84(2):235–250

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Hubbe M, Hanihara T, Harvati K (2009) Climate signatures in the morphological differentiation of worldwide modern human populations. Anat Rec-Adv Integr Anat Evol Biol 292(11):1720–1733

    Article  Google Scholar 

  • Hughes AL, Nei M (1988) Pattern of nucleotide substitution at major histocompatibility complex class I loci reveals overdominant selection. Nature 335(6186):167–170

    Article  CAS  PubMed  Google Scholar 

  • Hurley TD, Bosron WF, Stone CL, Amzel LM (1994) Structures of three human beta alcohol dehydrogenase variants. Correlations with their functional differences. J Mol Biol 239(3):415–429

    Article  CAS  PubMed  Google Scholar 

  • Iodice S, Maisonneuve P, Botteri E, Sandri MT, Lowenfels AB (2010) ABO blood group and cancer. Eur J Cancer 46(18):3345–3350

    Article  CAS  PubMed  Google Scholar 

  • Itan Y, Powell A, Beaumont MA, Burger J, Thomas MG (2009) The origins of lactase persistence in Europe. PLoS Comput Biol 5(8):e1000491

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Jablonski NG, Chaplin G (2000) The evolution of human skin coloration. J Hum Evol 39(1):57–106

    Article  CAS  PubMed  Google Scholar 

  • Jarvis JP et al (2012) Patterns of ancestry, signatures of natural selection, and genetic association with stature in Western African pygmies. PLoS Genet 8(4):e1002641

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Jostins L et al (2012) Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature 491(7422):119–124

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, Daigo Y, Nakamura Y, Kamatani N (2010) Genome-wide association study of hematological and biochemical traits in a Japanese population. Nat Genet 42(3):210–215

    Article  CAS  PubMed  Google Scholar 

  • Kamberov YG et al (2013) Modeling recent human evolution in mice by expression of a selected EDAR variant. Cell 152(4):691–702

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Kapoor M et al (2013) A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks. Hum Genet 132(10):1141–1151

    Article  PubMed  PubMed Central  Google Scholar 

  • Kelly RJ, Rouquier S, Giorgi D, Lennon GG, Lowe JB (1995) Sequence and expression of a candidate for the human secretor blood group alpha(1,2)fucosyltransferase gene (FUT2). Homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the non-secretor phenotype. J Biol Chem 270(9):4640–4649

    Article  CAS  PubMed  Google Scholar 

  • Kenny EE et al (2012) Melanesian blond hair is caused by an amino acid change in TYRP1. Science 336(6081):554

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Kim YJ et al (2011) Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. Nat Genet 43(10):990–995

    Article  CAS  PubMed  Google Scholar 

  • Kimura R, Fujimoto A, Tokunaga K, Ohashi J (2007) A practical genome scan for population-specific strong selective sweeps that have reached fixation. PLoS One 2(3):e286

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Kimura R, Ohashi J, Matsumura Y, Nakazawa M, Inaoka T, Ohtsuka R, Osawa M, Tokunaga K (2008) Gene flow and natural selection in oceanic human populations inferred from genome-wide SNP typing. Mol Biol Evol 25(8):1750–1761

    Article  CAS  PubMed  Google Scholar 

  • Kimura R et al (2009) A common variation in EDAR is a genetic determinant of shovel-shaped incisors. Am J Hum Genet 85(4):528–535

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Koda Y, Soejima M, Liu Y, Kimura H (1996) Molecular basis for secretor type alpha(1,2)-fucosyltransferase gene deficiency in a Japanese population: a fusion gene generated by unequal crossover responsible for the enzyme deficiency. Am J Hum Genet 59(2):343–350

    CAS  PubMed  PubMed Central  Google Scholar 

  • Koda Y, Soejima M, Johnson PH, Smart E, Kimura H (2000a) An Alu-mediated large deletion of the FUT2 gene in individuals with the ABO-Bombay phenotype. Hum Genet 106(1):80–85

    Article  CAS  PubMed  Google Scholar 

  • Koda Y, Tachida H, Soejima M, Takenaka O, Kimura H (2000b) Ancient origin of the null allele se(428) of the human ABO-secretor locus (FUT2). J Mol Evol 50(3):243–248

    Article  CAS  PubMed  Google Scholar 

  • Koda Y, Tachida H, Pang H, Liu Y, Soejima M, Ghaderi AA, Takenaka O, Kimura H (2001) Contrasting patterns of polymorphisms at the ABO-secretor gene (FUT2) and plasma alpha(1,3)fucosyltransferase gene (FUT6) in human populations. Genetics 158(2):747–756

    CAS  PubMed  PubMed Central  Google Scholar 

  • Kudo T, Iwasaki H, Nishihara S, Shinya N, Ando T, Narimatsu I, Narimatsu H (1996) Molecular genetic analysis of the human Lewis histo-blood group system. II. Secretor gene inactivation by a novel single missense mutation A385T in Japanese nonsecretor individuals. J Biol Chem 271(16):9830–9837

    Article  CAS  PubMed  Google Scholar 

  • Lango Allen H et al (2010) Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 467(7317):832–838

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Lao O, de Gruijter JM, van Duijn K, Navarro A, Kayser M (2007) Signatures of positive selection in genes associated with human skin pigmentation as revealed from analyses of single nucleotide polymorphisms. Ann Hum Genet 71(Pt 3):354–369

    Article  CAS  PubMed  Google Scholar 

  • Leinonen T, McCairns RJ, O'Hara RB, Merila J (2013) Q(ST)-F(ST) comparisons: evolutionary and ecological insights from genomic heterogeneity. Nat Rev Genet 14(3):179–190

    Article  CAS  PubMed  Google Scholar 

  • Li H et al (2007) Geographically separate increases in the frequency of the derived ADH1B*47His allele in eastern and western Asia. Am J Hum Genet 81(4):842–846

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Li R et al (2012) Six novel susceptibility loci for early-onset androgenetic alopecia and their unexpected association with common diseases. PLoS Genet 8(5):e1002746

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Li J et al (2013) Genome-wide association study on serum alkaline phosphatase levels in a Chinese population. BMC Genomics 14:684

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Lin X et al (2012) Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men. Hum Mol Genet 21(11):2610–2617

    Article  CAS  PubMed  Google Scholar 

  • Lindesmith L, Moe C, Marionneau S, Ruvoen N, Jiang X, Lindblad L, Stewart P, LePendu J, Baric R (2003) Human susceptibility and resistance to Norwalk virus infection. Nat Med 9(5):548–553

    Article  CAS  PubMed  Google Scholar 

  • Liu F et al (2012) A genome-wide association study identifies five loci influencing facial morphology in Europeans. PLoS Genet 8(9):e1002932

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Liumbruno GM, Franchini M (2013) Beyond immunohaematology: the role of the ABO blood group in human diseases. Blood Transfus = Trasfusione del sangue 11(4):491–499

    PubMed  Google Scholar 

  • Macgregor S et al (2009) Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysis. Hum Mol Genet 18(3):580–593

    Article  CAS  PubMed  Google Scholar 

  • Maes HH, Neale MC, Eaves LJ (1997) Genetic and environmental factors in relative body weight and human adiposity. Behav Genet 27(4):325–351

    Article  CAS  PubMed  Google Scholar 

  • Matsunaga E (1962) The dimorphism in human normal cerumen. Ann Hum Genet 25:273–286

    Article  CAS  PubMed  Google Scholar 

  • McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JP, Hirschhorn JN (2008) Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 9(5):356–369

    Article  CAS  PubMed  Google Scholar 

  • McGovern DP et al (2010) Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn’s disease. Hum Mol Genet 19(17):3468–3476

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Medland SE et al (2009) Common variants in the trichohyalin gene are associated with straight hair in Europeans. Am J Hum Genet 85(5):750–755

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Miura K et al (2007) A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland. Hum Genet 121(5):631–633

    Article  PubMed  Google Scholar 

  • Moeller A, Weippert-Kretschmer M, Prinz H, Kretschmer V (2001) Influence of ABO blood groups on primary hemostasis. Transfusion 41(1):56–60

    Article  CAS  PubMed  Google Scholar 

  • Moltke I et al (2014) A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes. Nature 512(7513):190–193

    Article  CAS  PubMed  Google Scholar 

  • Nakano M, Miwa N, Hirano A, Yoshiura K, Niikawa N (2009) A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene. BMC Genet 10:42

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Nan H, Kraft P, Hunter DJ, Han J (2009) Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Int J Cancer 125(4):909–917

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Neel JV (1962) Diabetes mellitus: a “thrifty” genotype rendered detrimental by “progress”? Am J Hum Genet 14:353–362

    CAS  PubMed  PubMed Central  Google Scholar 

  • Norton HL et al (2007) Genetic evidence for the convergent evolution of light skin in Europeans and East Asians. Mol Biol Evol 24(3):710–722

    Article  CAS  PubMed  Google Scholar 

  • O’Donnell J, Laffan MA (2001) The relationship between ABO histo-blood group, factor VIII and von Willebrand factor. Transfus Med 11(4):343–351

    Article  PubMed  Google Scholar 

  • Ohashi J, Naka I, Patarapotikul J, Hananantachai H, Brittenham G, Looareesuwan S, Clark AG, Tokunaga K (2004) Extended linkage disequilibrium surrounding the hemoglobin E variant due to malarial selection. Am J Hum Genet 74(6):1198–1208

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ohashi J, Naka I, Tsuchiya N (2011) The impact of natural selection on an ABCC11 SNP determining earwax type. Mol Biol Evol 28(1):849–857

    Article  CAS  PubMed  Google Scholar 

  • Oota H et al (2004) The evolution and population genetics of the ALDH2 locus: random genetic drift, selection, and low levels of recombination. Ann Hum Genet 68(Pt 2):93–109

    Article  CAS  PubMed  Google Scholar 

  • Oriol R, Le Pendu J, Sparkes RS, Sparkes MC, Crist M, Gale RP, Terasaki PI, Bernoco M (1981) Insights into the expression of ABH and Lewis antigens through human bone marrow transplantation. Am J Hum Genet 33(4):551–560

    CAS  PubMed  PubMed Central  Google Scholar 

  • Osier MV et al (2002) A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity. Am J Hum Genet 71(1):84–99

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Pare G, Chasman DI, Kellogg M, Zee RY, Rifai N, Badola S, Miletich JP, Ridker PM (2008) Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women. PLoS Genet 4(7):e1000118

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Pare G et al (2011) Genome-wide association analysis of soluble ICAM-1 concentration reveals novel associations at the NFKBIK, PNPLA3, RELA, and SH2B3 loci. PLoS Genet 7(4):e1001374

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Park J et al (2012) Effects of an Asian-specific nonsynonymous EDAR variant on multiple dental traits. J Hum Genet in press

    Google Scholar 

  • Park BL et al (2013) Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication. Hum Genet 132(6):657–668

    Article  CAS  PubMed  Google Scholar 

  • Paternoster L et al (2012) Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position. Am J Hum Genet 90(3):478–485

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Paterson AD et al (2009) Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-selectin. Arterioscler Thromb Vasc Biol 29(11):1958–1967

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Peng Y, Shi H, Qi XB, Xiao CJ, Zhong H, Ma RL, Su B (2010) The ADH1B Arg47His polymorphism in east Asian populations and expansion of rice domestication in history. BMC Evol Biol 10:15

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Peng S, Tan J, Hu S, Zhou H, Guo J, Jin L, Tang K (2013) Detecting genetic association of common human facial morphological variation using high density 3D image registration. PLoS Comput Biol 9(12):e1003375

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Pickrell JK et al (2009) Signals of recent positive selection in a worldwide sample of human populations. Genome Res 19(5):826–837

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Plomin R, Haworth CM, Davis OS (2009) Common disorders are quantitative traits. Nat Rev Genet 10(12):872–878

    Article  CAS  PubMed  Google Scholar 

  • Preston AE, Barr A (1964) The plasma concentration of factor Viii in the normal population. II. The effects of age, sex and blood group. Br J Haematol 10:238–245

    Article  CAS  PubMed  Google Scholar 

  • Prugnolle F, Manica A, Charpentier M, Guegan JF, Guernier V, Balloux F (2005) Pathogen-driven selection and worldwide HLA class I diversity. Curr Biol 15(11):1022–1027

    Article  CAS  PubMed  Google Scholar 

  • Qi L et al (2010) Genetic variants in ABO blood group region, plasma soluble E-selectin levels and risk of type 2 diabetes. Hum Mol Genet 19(9):1856–1862

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ranciaro A et al (2014) Genetic origins of lactase persistence and the spread of pastoralism in Africa. Am J Hum Genet 94(4):496–510

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Rees JL (2003) Genetics of hair and skin color. Annu Rev Genet 37:67–90

    Article  CAS  PubMed  Google Scholar 

  • Reilly MP et al (2011) Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies. Lancet 377(9763):383–392

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Richards JB et al (2008) Male-pattern baldness susceptibility locus at 20p11. Nat Genet 40(11):1282–1284

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Risch HA, Yu H, Lu L, Kidd MS (2010) ABO blood group, Helicobacter pylori seropositivity, and risk of pancreatic cancer: a case-control study. J Natl Cancer Inst 102(7):502–505

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Roberts DF (1953) Body weight, race and climate. Am J Phys Anthropol 11(4):533–558

    Article  CAS  PubMed  Google Scholar 

  • Roseman CC (2004) Detecting interregionally diversifying natural selection on modern human cranial form by using matched molecular and morphometric data. Proc Natl Acad Sci U S A 101(35):12824–12829

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Roseman CC, Weaver TD (2004) Multivariate apportionment of global human craniometric diversity. Am J Phys Anthropol 125(3):257–263

    Article  PubMed  Google Scholar 

  • Rosenberg NA, Huang L, Jewett EM, Szpiech ZA, Jankovic I, Boehnke M (2010) Genome-wide association studies in diverse populations. Nat Rev Genet 11(5):356–366

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Rouquier S, Lowe JB, Kelly RJ, Fertitta AL, Lennon GG, Giorgi D (1995) Molecular cloning of a human genomic region containing the H blood group alpha(1,2)fucosyltransferase gene and two H locus-related DNA restriction fragments. Isolation of a candidate for the human secretor blood group locus. J Biol Chem 270(9):4632–4639

    Article  CAS  PubMed  Google Scholar 

  • Roychoudhury AK, Nei M (1988) Human polymorphic genes: world distribution. Oxford University Press, New York

    Google Scholar 

  • Sabeti PC et al (2002) Detecting recent positive selection in the human genome from haplotype structure. Nature 419(6909):832–837

    Article  CAS  PubMed  Google Scholar 

  • Sabeti PC et al (2007) Genome-wide detection and characterization of positive selection in human populations. Nature 449(7164):913–918

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Schunkert H et al (2011) Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet 43(4):333–338

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Scott GR, Turner CGI (1997) The anthropology of modern human teeth: dental morphology and its variation in recent human populations. Cambridge University Press, Cambridge

    Book  Google Scholar 

  • Shai I, Jiang R, Manson JE, Stampfer MJ, Willett WC, Colditz GA, Hu FB (2006) Ethnicity, obesity, and risk of type 2 diabetes in women: a 20-year follow-up study. Diabetes Care 29(7):1585–1590

    Article  PubMed  Google Scholar 

  • Sheinfeld J, Schaeffer AJ, Cordon-Cardo C, Rogatko A, Fair WR (1989) Association of the Lewis blood-group phenotype with recurrent urinary tract infections in women. N Engl J Med 320(12):773–777

    Article  CAS  PubMed  Google Scholar 

  • Shibuya A, Yoshida A (1988) Genotypes of alcohol-metabolizing enzymes in Japanese with alcohol liver diseases: a strong association of the usual Caucasian-type aldehyde dehydrogenase gene (ALDH1(2)) with the disease. Am J Hum Genet 43(5):744–748

    CAS  PubMed  PubMed Central  Google Scholar 

  • Skoglund P, Gotherstrom A, Jakobsson M (2011) Estimation of population divergence times from non-overlapping genomic sequences: examples from dogs and wolves. Mol Biol Evol 28(4):1505–1517

    Article  CAS  PubMed  Google Scholar 

  • Stokowski RP et al (2007) A genomewide association study of skin pigmentation in a South Asian population. Am J Hum Genet 81(6):1119–1132

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Stunkard AJ, Foch TT, Hrubec Z (1986) A twin study of human obesity. JAMA 256(1):51–54

    Article  CAS  PubMed  Google Scholar 

  • Sturm RA, Duffy DL (2012) Human pigmentation genes under environmental selection. Genome Biol 13(9):248

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Sulem P et al (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet 39(12):1443–1452

    Article  CAS  PubMed  Google Scholar 

  • Sulem P et al (2008) Two newly identified genetic determinants of pigmentation in Europeans. Nat Genet 40(7):835–837

    Article  CAS  PubMed  Google Scholar 

  • Takahata N, Satta Y, Klein J (1992) Polymorphism and balancing selection at major histocompatibility complex loci. Genetics 130(4):925–938

    CAS  PubMed  PubMed Central  Google Scholar 

  • Tanaka T et al (2009) Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. Am J Hum Genet 84(4):477–482

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Tang K, Thornton KR, Stoneking M (2007) A new approach for using genome scans to detect recent positive selection in the human genome. PLoS Biol 5(7):–e171

    Google Scholar 

  • Tang W et al (2012) Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. Am J Hum Genet 91(1):152–162

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Tang W et al (2013) A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. Genet Epidemiol 37(5):512–521

    Article  PubMed  PubMed Central  Google Scholar 

  • Teslovich TM et al (2010) Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466(7307):707–713

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Timmann C et al (2012) Genome-wide association study indicates two novel resistance loci for severe malaria. Nature 489(7416):443–446

    Article  CAS  PubMed  Google Scholar 

  • Tishkoff SA et al (2007) Convergent adaptation of human lactase persistence in Africa and Europe. Nat Genet 39(1):31–40

    Article  CAS  PubMed  Google Scholar 

  • Tregouet DA et al (2009) Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach. Blood 113(21):5298–5303

    Article  CAS  PubMed  Google Scholar 

  • van Loon FP et al (1991) ABO blood groups and the risk of diarrhea due to enterotoxigenic Escherichia coli. J Infect Dis 163(6):1243–1246

    Article  PubMed  Google Scholar 

  • Voight BF, Kudaravalli S, Wen X, Pritchard JK (2006) A map of recent positive selection in the human genome. PLoS Biol 4(3):e72

    Article  PubMed  PubMed Central  Google Scholar 

  • Wang ET, Kodama G, Baldi P, Moyzis RK (2006) Global landscape of recent inferred Darwinian selection for homo sapiens. Proc Natl Acad Sci U S A 103(1):135–140

    Google Scholar 

  • Wang TL et al (2010) Prevalence of androgenetic alopecia in China: a community-based study in six cities. Br J Dermatol 162(4):843–847

    Article  CAS  PubMed  Google Scholar 

  • Wang Z, Liu L, Ji J, Zhang J, Yan M, Liu B, Zhu Z, Yu Y (2012) ABO blood group system and gastric cancer: a case-control study and meta-analysis. Int J Mol Sci 13(10):13308–13321

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Wen CP, David Cheng TY, Tsai SP, Chan HT, Hsu HL, Hsu CC, Eriksen MP (2009) Are Asians at greater mortality risks for being overweight than Caucasians? Redefining obesity for Asians. Public Health Nutr 12(4):497–506

    Article  PubMed  Google Scholar 

  • Whitlock MC (2008) Evolutionary inference from QST. Mol Ecol 17(8):1885–1896

    Article  PubMed  Google Scholar 

  • Willer CJ et al (2009) Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet 41(1):25–34

    Article  CAS  PubMed  Google Scholar 

  • Willer CJ et al (2013) Discovery and refinement of loci associated with lipid levels. Nat Genet 45(11):1274–1283

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Williams FM et al (2013) Ischemic stroke is associated with the ABO locus: the EuroCLOT study. Ann Neurol 73(1):16–31

    Article  PubMed  PubMed Central  Google Scholar 

  • Williamson SH, Hubisz MJ, Clark AG, Payseur BA, Bustamante CD, Nielsen R (2007) Localizing recent adaptive evolution in the human genome. PLoS Genet 3(6):e90

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Wolpin BM, Chan AT, Hartge P, Chanock SJ, Kraft P, Hunter DJ, Giovannucci EL, Fuchs CS (2009) ABO blood group and the risk of pancreatic cancer. J Natl Cancer Inst 101(6):424–431

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Wood AR et al (2014) Defining the role of common variation in the genomic and biological architecture of adult human height. Nat Genet 46(11):1173–1186

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Yamaguchi K et al (2012) Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese. J Hum Genet 57(11):700–708

    Article  CAS  PubMed  Google Scholar 

  • Yamamoto F, Clausen H, White T, Marken J, Hakomori S (1990) Molecular genetic basis of the histo-blood group ABO system. Nature 345(6272):229–233

    Article  CAS  PubMed  Google Scholar 

  • Yokoyama A, Tsutsumi E, Imazeki H, Suwa Y, Nakamura C, Yokoyama T (2007) Contribution of the alcohol dehydrogenase-1B genotype and oral microorganisms to high salivary acetaldehyde concentrations in Japanese alcoholic men. Int J Cancer 121(5):1047–1054

    Article  CAS  PubMed  Google Scholar 

  • Yoshiura K et al (2006) A SNP in the ABCC11 gene is the determinant of human earwax type. Nat Genet 38(3):324–330

    Article  CAS  PubMed  Google Scholar 

  • Young JM, Massa HF, Hsu L, Trask BJ (2010) Extreme variability among mammalian V1R gene families. Genome Res 20(1):10–18

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Yuan X et al (2008) Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. Am J Hum Genet 83(4):520–528

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Zhou L et al (2013) A genome wide association study identifies common variants associated with lipid levels in the Chinese population. PLoS One 8(12):e82420

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Zimmerman PA et al (1999) Emergence of FY*A(null) in a plasmodium vivax-endemic region of Papua New Guinea. Proc Natl Acad Sci U S A 96(24):13973–13977

    Article  CAS  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Human Biology and Anatomy, Graduate School of Medicine, University of the Ryukyus, Nishihara-cho, Okinawa, Japan

    Ryosuke Kimura

Authors
  1. Ryosuke Kimura
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Ryosuke Kimura .

Editor information

Editors and Affiliations

  1. Division of Population Genetics, National Institute of Genetics, Mishima, Japan

    Naruya Saitou

Rights and permissions

Reprints and permissions

Copyright information

© 2017 Springer Japan KK

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Kimura, R. (2017). Global Landscapes of Human Phenotypic Variation in Inherited Traits. In: Saitou, N. (eds) Evolution of the Human Genome I. Evolutionary Studies. Springer, Tokyo. https://doi.org/10.1007/978-4-431-56603-8_11

Download citation

Publish with us

Policies and ethics

Search

Navigation