The evolutionary history of TLR4 polymorphisms in Europe

Journal of Innate Immunity

Volumn 4, Issue 2, 2012, Pages 168-175

  Plantinga, Theo S ^a   Ioana, Mihai ^a,c   Alonso, Santos ^b   Izagirre, Neskuts ^b   Hervella, Montserrat ^b   Joosten, Leo A B ^a   Van Der Meer, Jos W M ^a   De La Rúa, Concepcion ^b   Netea, Mihai G ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

^c UNIVERSITY OF MEDICINE AND PHARMACY OF CRAIOVA   (Romania)

Author keywords

Europe; Neolithic; Sepsis; TLR4

Indexed keywords

ASPARTIC ACID; DNA; GLYCINE; MITOCHONDRIAL DNA; THREONINE; TOLL LIKE RECEPTOR 4;

AFRICA; ALLELE; EUROPE; GENE MUTATION; GENETIC DRIFT; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HAPLOTYPE; HOST RESISTANCE; HUMAN; INNATE IMMUNITY; METHODOLOGY; NONHUMAN; PHYLOGENY; POPULATION MIGRATION; PREVALENCE; PRIORITY JOURNAL; REVIEW; SEPSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

EUROPE; EUROPEAN CONTINENTAL ANCESTRY GROUP; EVOLUTION, MOLECULAR; GENETIC DRIFT; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; IMMUNITY, INNATE; POLYMORPHISM, SINGLE NUCLEOTIDE; TOLL-LIKE RECEPTOR 4;

EID: 84857750503     PISSN: 1662811X     EISSN: 16628128     Source Type: Journal    
DOI: 10.1159/000329492     Document Type: Review

References (40)

1. Barreiro LB, Quintana-Murci L: From evolutionary genetics to human immunology: How selection shapes host defence genes. Nat Rev Genet 2010; 11: 17-30.
2. Ferrer-Admetlla A, Bosch E, Sikora M, Marques-Bonet T, Ramirez-Soriano A, Muntasell A, Navarro A, Lazarus R, Calafell F, Bertranpetit J, Casals F: Balancing selection is the main force shaping the evolution of innate immunity genes. J Immunol 2008; 181: 1315-1322.
3. Takeuchi O, Akira S: Pattern recognition receptors and inflammation. Cell 2010; 140: 805-820.
4. Akira S, Takeda K, Kaisho T: Toll-like receptors: Critical proteins linking innate and acquired immunity. Nat Immunol 2001; 2: 675-680. (Pubitemid 32747155)
5. Roach JC, Glusman G, Rowen L, Kaur A, Purcell MK, Smith KD, Hood LE, Aderem A: The evolution of vertebrate Toll-like receptors. Proc Natl Acad Sci USA 2005; 102: 9577-9582. (Pubitemid 40981723)
6. Leulier F, Lemaitre B: Toll-like receptors -taking an evolutionary approach. Nat Rev Genet 2008; 9: 165-178. (Pubitemid 351271799)
7. Barreiro LB, Ben-Ali M, Quach H, Laval G, Patin E, Pickrell JK, Bouchier C, Tichit M, Neyrolles O, Gicquel B, Kidd JR, Kidd KK, Alcais A, Ragimbeau J, Pellegrini S, Abel L, Casanova JL, Quintana-Murci L: Evolutionary dynamics of human Toll-like receptors and their different contributions to host defense. PLoS Genet 2009; 5:e1000562.
8. Sabeti PC, Schaffner SF, Fry B, Lohmueller J, Varilly P, Shamovsky O, Palma A, Mikkelsen TS, Altshuler D, Lander ES: Positive natural selection in the human lineage. Science 2006; 312: 1614-1620. (Pubitemid 43902654)
9. Krishnegowda G, Hajjar AM, Zhu J, Douglass EJ, Uematsu S, Akira S, Woods AS, Gowda DC: Induction of proinflammatory responses in macrophages by the glycosylphosphatidylinositols of Plasmodium falciparum: Cell signaling receptors, glycosylphosphatidylinositol (GPI) structural requirement, and regulation of GPI activity. J Biol Chem 2005; 280: 8606-8616. (Pubitemid 40349765)
10. Kurt-Jones EA, Popova L, Kwinn L, Haynes LM, Jones LP, Tripp RA, Walsh EE, Freeman MW, Golenbock DT, Anderson LJ, Finberg RW: Pattern recognition receptors TLR4 and CD14 mediate response to respiratory syncytial virus. Nat Immunol 2000; 1: 398-401.
11. Lien E, Means TK, Heine H, Yoshimura A, Kusumoto S, Fukase K, Fenton MJ, Oikawa M, Qureshi N, Monks B, Finberg RW, Ingalls RR, Golenbock DT: Toll-like receptor 4 imparts ligand-specific recognition of bacterial lipopolysaccharide. J Clin Invest 2000; 105: 497-504. (Pubitemid 30127250)
12. Malley R, Henneke P, Morse SC, Cieslewicz MJ, Lipsitch M, Thompson CM, Kurt-Jones E, Paton JC, Wessels MR, Golenbock DT: Recognition of pneumolysin by Toll-like receptor 4 confers resistance to pneumococcal infection. Proc Natl Acad Sci U S A 2003; 100: 1966-1971. (Pubitemid 36254557)
13. Weindl G, Naglik JR, Kaesler S, Biedermann T, Hube B, Korting HC, Schaller M: Human epithelial cells establish direct antifungal defense through TLR4-mediated signaling. J Clin Invest 2007; 117: 3664-3672. (Pubitemid 350224078)
14. Smirnova I, Hamblin MT, McBride C, Beutler B, Di RA: Excess of rare amino acid polymorphisms in the Toll-like receptor 4 in humans. Genetics 2001; 158: 1657-1664. (Pubitemid 32783146)
15. Lorenz E, Mira JP, Frees KL, Schwartz DA: Relevance of mutations in the TLR4 receptor in patients with Gram-negative septic shock. Arch Intern Med 2002; 162: 1028-1032. (Pubitemid 34492532)
16. Agnese DM, Calvano JE, Hahm SJ, Coyle SM, Corbett SA, Calvano SE, Lowry SF: Human toll-like receptor 4 mutations but not CD14 polymorphisms are associated with an increased risk of Gram-negative infections. J Infect Dis 2002; 186: 1522-1525. (Pubitemid 35286126)
17. Radstake TR, Franke B, Hanssen S, Netea MG, Welsing P, Barrera P, Joosten LA, van Riel PL, van den Berg WB: The Toll-like receptor 4 Asp299Gly functional variant is associated with decreased rheumatoid arthritis disease susceptibility but does not influence disease severity and/or outcome. Arthritis Rheum 2004; 50: 999-1001. (Pubitemid 38326201)
18. Chiaroni J, Underhill PA, Cavalli-Sforza LL: Y chromosome diversity, human expansion, drift, and cultural evolution. Proc Natl Acad Sci USA 2009; 106: 20174-20179.
19. Ferwerda B, McCall MB, Alonso S, Giamarellos-Bourboulis EJ, Mouktaroudi M, Izagirre N, Syafruddin D, Kibiki G, Cristea T, Hijmans A, Hamann L, Israel S, ElGhazali G, Troye-Blomberg M, Kumpf O, Maiga B, Dolo A, Doumbo O, Hermsen CC, Stalenhoef AF, van CR, Brunner HG, Oh DY, Schumann RR, de la RC, Sauerwein R, Kullberg BJ, van d, V, Van Der Meer JW, Netea MG: TLR4 polymorphisms, infectious diseases, and evolutionary pressure during migration of modern humans. Proc Natl Acad Sci USA 2007; 104: 16645-16650. (Pubitemid 350211070)
20. Ferwerda B, McCall MB, Verheijen K, Kullberg BJ, van d, V, Van Der Meer JW, Netea MG: Functional consequences of Toll-like receptor 4 polymorphisms. Mol Med 2008; 14: 346-352. (Pubitemid 351785708)
21. Coop G, Pickrell JK, Novembre J, Kudaravalli S, Li J, Absher D, Myers RM, Cavalli-Sforza LL, Feldman MW, Pritchard JK: The role of geography in human adaptation. PLoS Genet 2009; 5:e1000500.
22. Li JZ, Absher DM, Tang H, Southwick AM, Casto AM, Ramachandran S, Cann HM, Barsh GS, Feldman M, Cavalli-Sforza LL, Myers RM: Worldwide human relationships inferred from genome-wide patterns of variation. Science 2008; 319: 1100-1104. (Pubitemid 351300793)
23. Awomoyi AA, Rallabhandi P, Pollin TI, Lorenz E, Sztein MB, Boukhvalova MS, Hemming VG, Blanco JC, Vogel SN: Association of TLR4 polymorphisms with symptomatic respiratory syncytial virus infection in high-risk infants and young children. J Immunol 2007; 179: 3171-3177.
24. Erridge C, Stewart J, Poxton IR: Monocytes heterozygous for the Asp299Gly and Thr399Ile mutations in the Toll-like receptor 4 gene show no deficit in lipopolysaccharide signalling. J Exp Med 2003; 197: 1787-1791. (Pubitemid 36745353)
25. Richards M, Macaulay V, Hickey E, Vega E, Sykes B, Guida V, Rengo C, Sellitto D, Cruciani F, Kivisild T, Villems R, Thomas M, Rychkov S, Rychkov O, Rychkov Y, Golge M, Dimitrov D, Hill E, Bradley D, Romano V, Cali F, Vona G, Demaine A, Papiha S, Triantaphyllidis C, Stefanescu G, Hatina J, Belledi M, Di RA, Novelletto A, Oppenheim A, Norby S, Al-Zaheri N, Santachiara-Benerecetti S, Scozari R, Torroni A, Bandelt HJ: Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet 2000; 67: 1251-1276.
26. Richards M, Corte-Real H, Forster P, Macaulay V, Wilkinson-Herbots H, Demaine A, Papiha S, Hedges R, Bandelt HJ, Sykes B: Paleolithic and neolithic lineages in the European mitochondrial gene pool. Am J Hum Genet 1996; 59: 185-203. (Pubitemid 26189745)
27. Semino O, Passarino G, Oefner PJ, Lin AA, Arbuzova S, Beckman LE, De BG, Francalacci P, Kouvatsi A, Limborska S, Marcikiae M, Mika A, Mika B, Primorac D, Santachiara-Benerecetti AS, Cavalli-Sforza LL, Underhill PA: The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: A Y chromosome perspective. Science 2000; 290: 1155-1159.
28. 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, Loogvali EL, Kivisild T, Bandelt HJ, Richards M, Villems R, Santachiara- Benerecetti AS, Semino O, Torroni A: The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am J Hum Genet 2004; 75: 910-918. (Pubitemid 39390500)
29. Soares P, Achilli A, Semino O, Davies W, Macaulay V, Bandelt HJ, Torroni A, Richards MB: The archaeogenetics of Europe. Curr Biol 2010; 20:R174-R183.
30. Torroni A, Bandelt HJ, Macaulay V, Richards M, Cruciani F, Rengo C, Martinez-Cabrera V, Villems R, Kivisild T, Metspalu E, Parik J, Tolk HV, Tambets K, Forster P, Karger B, Francalacci P, Rudan P, Janicijevic B, Rickards O, Savontaus ML, Huoponen K, Laitinen V, Koivumaki S, Sykes B, Hickey E, Novelletto A, Moral P, Sellitto D, Coppa A, Al-Zaheri N, Santachiara-Benerecetti AS, Semino O, Scozzari R: A signal, from human mtDNA, of postglacial recolonization in Europe. Am J Hum Genet 2001; 69: 844-852. (Pubitemid 32868528)
31. Pereira L, Richards M, Goios A, Alonso A, Albarran C, Garcia O, Behar DM, Golge M, Hatina J, Al-Gazali L, Bradley DG, Macaulay V, Amorim A: High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium. Genome Res 2005; 15: 19-24.
32. Izagirre N, de la RC: An mtDNA analysis in ancient Basque populations: Implications for haplogroup V as a marker for a major paleolithic expansion from southwestern europe. Am J Hum Genet 1999; 65: 199-207. (Pubitemid 30470465)
33. Garcia O, Fregel R, Larruga JM, Alvarez V, Yurrebaso I, Cabrera VM, Gonzalez AM: Using mitochondrial DNA to test the hypothesis of a European post-glacial human recolonization from the Franco-Cantabrian refuge. Heredity 2011; 106: 37-45.
34. Excoffier L, Foll M, Petit R: Genetic consequences of range expansions. Ann Rev Ecol Evol System 2009; 40: 481-501.
35. Beutler B: Microbe sensing, positive feedback loops, and the pathogenesis of inflammatory diseases. Immunol Rev 2009; 227: 248-263.
36. Di RA: Population genetics models of common diseases. Curr Opin Genet Dev 2006; 16: 630-636.
37. Fageras BM, Hmani-Aifa M, Lindstrom A, Jenmalm MC, Mai XM, Nilsson L, Zdolsek HA, Bjorksten B, Soderkvist P, Vaarala O: A TLR4 polymorphism is associated with asthma and reduced lipopolysaccharide-induced interleukin-12(p70) responses in Swedish children. J Allergy Clin Immunol 2004; 114: 561-567. (Pubitemid 39194929)
38. Yang IA, Barton SJ, Rorke S, Cakebread JA, Keith TP, Clough JB, Holgate ST, Holloway JW: Toll-like receptor 4 polymorphism and severity of atopy in asthmatics. Genes Immun 2004; 5: 41-45. (Pubitemid 38967628)
39. Cooper A, Poinar HN: Ancient DNA: Do it right or not at all. Science 2000; 289: 1139. (Pubitemid 30650710)
40. Hofreiter M, Serre D, Poinar HN, Kuch M, Paabo S: Ancient DNA. Nat Rev Genet 2001; 2: 353-359. (Pubitemid 33673073)