Home LiteratureArticle Details
PMID: 22310894 Published · epublish English Journal Article Research Support, Non-U.S. Gov't Review

Human genetic susceptibility to infectious disease.

Nature reviews. Genetics ·Vol. 13 ·No. 3 ·2012-02-07 ·Pages 175-88

Chapman SJ, Hill AV

Abstract

Recent genome-wide studies have reported novel associations between common polymorphisms and susceptibility to many major infectious diseases in humans. In parallel, an increasing number of rare mutations underlying susceptibility to specific phenotypes of infectious disease have been described. Together, these developments have highlighted a key role for host genetic variation in determining the susceptibility to infectious disease. They have also provided insights into the genetic architecture of infectious disease susceptibility and identified immune molecules and pathways that are directly relevant to the human host defence.

MeSH Terms
Communicable Diseases/etiology Genetic Predisposition to Disease Genome, Human Humans Polymorphism, Genetic/genetics
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Chapman Stephen J
Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK. [email protected]
Hill Adrian V S
References (176)
176 references, click to expand
  1. Human genetics of infectious diseases: between proof of principle and paradigm.
    J Clin Invest. 2009 Sep;119(9):2506-14 PMID: 19729848
  2. Host genetic susceptibility to pneumococcal and meningococcal disease: a systematic review and meta-analysis.
    Lancet Infect Dis. 2009 Jan;9(1):31-44 PMID: 19036641
  3. TIRAP (MAL) S180L polymorphism is a common protective factor against developing tuberculosis and systemic lupus erythematosus.
    Infect Genet Evol. 2008 Sep;8(5):541-4 PMID: 18417424
  4. Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis.
    Nat Genet. 2002 Dec;32(4):579-81 PMID: 12426567
  5. HLA and leprosy in the pre and postgenomic eras.
    Hum Immunol. 2006 Jun;67(6):439-45 PMID: 16728267
  6. Complement deficiency states and associated infections.
    Mol Immunol. 2011 Aug;48(14):1643-55 PMID: 21624663
  7. Genetic heterogeneity in human disease.
    Cell. 2010 Apr 16;141(2):210-7 PMID: 20403315
  8. Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population.
    AIDS. 2011 Feb 20;25(4):513-8 PMID: 21160409
  9. Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense.
    Immunol Rev. 2008 Dec;226:29-40 PMID: 19161414
  10. A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration.
    Nat Genet. 2006 Oct;38(10):1173-7 PMID: 16998489
  11. A common HLA-DPA1 variant is a major determinant of hepatitis B virus clearance in Han Chinese.
    J Infect Dis. 2011 Apr 1;203(7):943-7 PMID: 21402545
  12. HLA and infectious diseases.
    Clin Microbiol Rev. 2009 Apr;22(2):370-85, Table of Contents PMID: 19366919
  13. A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians.
    Nat Genet. 2009 May;41(5):591-5 PMID: 19349983
  14. The HCP5 single-nucleotide polymorphism: a simple screening tool for prediction of hypersensitivity reaction to abacavir.
    J Infect Dis. 2008 Sep 15;198(6):864-7 PMID: 18684101
  15. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.
    Nature. 2007 Aug 30;448(7157):1058-62 PMID: 17676033
  16. The influence of host and bacterial genotype on the development of disseminated disease with Mycobacterium tuberculosis.
    PLoS Pathog. 2008 Mar 28;4(3):e1000034 PMID: 18369480
  17. Genome-wide association study identified ITPA/DDRGK1 variants reflecting thrombocytopenia in pegylated interferon and ribavirin therapy for chronic hepatitis C.
    Hum Mol Genet. 2011 Sep 1;20(17):3507-16 PMID: 21659334
  18. A whole genome association study of mother-to-child transmission of HIV in Malawi.
    Genome Med. 2010 Mar 01;2(3):17 PMID: 20487506
  19. A map of human genome variation from population-scale sequencing.
    Nature. 2010 Oct 28;467(7319):1061-73 PMID: 20981092
  20. Genomewide association studies and assessment of the risk of disease.
    N Engl J Med. 2010 Jul 8;363(2):166-76 PMID: 20647212
  21. Genetics of susceptibility to human infectious disease.
    Nat Rev Genet. 2001 Dec;2(12):967-77 PMID: 11733749
  22. Genome-wide association studies in diverse populations.
    Nat Rev Genet. 2010 May;11(5):356-66 PMID: 20395969
  23. Contrasting genetic influence of CCR2 and CCR5 variants on HIV-1 infection and disease progression. Hemophilia Growth and Development Study (HGDS), Multicenter AIDS Cohort Study (MACS), Multicenter Hemophilia Cohort Study (MHCS), San Francisco City Cohort (SFCC), ALIVE Study.
    Science. 1997 Aug 15;277(5328):959-65 PMID: 9252328
  24. Tuberculosis in twins: a re-analysis of the Prophit survey.
    Am Rev Respir Dis. 1978 Apr;117(4):621-4 PMID: 565607
  25. CCR5 promoter polymorphism determines macrophage CCR5 density and magnitude of HIV-1 propagation in vitro.
    Clin Immunol. 2003 Sep;108(3):234-40 PMID: 14499246
  26. Host genetics and outcome in meningococcal disease: a systematic review and meta-analysis.
    Lancet Infect Dis. 2010 Apr;10(4):262-74 PMID: 20334849
  27. Toll-like receptor polymorphisms and susceptibility to human disease.
    Clin Sci (Lond). 2008 Mar;114(5):347-60 PMID: 18230059
  28. Strong influence of human leukocyte antigen (HLA)-DP gene variants on development of persistent chronic hepatitis B virus carriers in the Han Chinese population.
    Hepatology. 2011 Feb;53(2):422-8 PMID: 21274863
  29. Interferon-alfa, interferon-lambda and hepatitis C.
    Nat Genet. 2009 Oct;41(10):1048-50 PMID: 19749756
  30. Sporadic and familial CJD: classification and characterisation.
    Br Med Bull. 2003;66:213-39 PMID: 14522861
  31. Genome-wide analysis of the host intracellular network that regulates survival of Mycobacterium tuberculosis.
    Cell. 2010 Mar 5;140(5):731-43 PMID: 20211141
  32. On the origin of leprosy.
    Science. 2005 May 13;308(5724):1040-2 PMID: 15894530
  33. Evaluation of genetic susceptibility loci for chronic hepatitis B in Chinese: two independent case-control studies.
    PLoS One. 2011 Mar 08;6(3):e17608 PMID: 21408128
  34. Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.
    Nat Genet. 2010 Sep;42(9):739-741 PMID: 20694014
  35. Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1.
    Nat Genet. 2011 Oct 16;43(11):1139-41 PMID: 22001756
  36. IL28B is associated with response to chronic hepatitis C interferon-alpha and ribavirin therapy.
    Nat Genet. 2009 Oct;41(10):1100-4 PMID: 19749758
  37. Genetic variations in HLA-B region and hypersensitivity reactions to abacavir.
    Lancet. 2002 Mar 30;359(9312):1121-2 PMID: 11943262
  38. Functional adaptation of BabA, the H. pylori ABO blood group antigen binding adhesin.
    Science. 2004 Jul 23;305(5683):519-22 PMID: 15273394
  39. Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics.
    Science. 2003 Apr 25;300(5619):640-3 PMID: 12690204
  40. The early whole-blood transcriptional signature of dengue virus and features associated with progression to dengue shock syndrome in Vietnamese children and young adults.
    J Virol. 2010 Dec;84(24):12982-94 PMID: 20943967
  41. Variation across the allele frequency spectrum.
    Nat Genet. 2010 Aug;42(8):648-50 PMID: 20664646
  42. Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance.
    Nature. 2009 Sep 17;461(7262):399-401 PMID: 19684573
  43. Distinct genetic loci control plasma HIV-RNA and cellular HIV-DNA levels in HIV-1 infection: the ANRS Genome Wide Association 01 study.
    PLoS One. 2008;3(12):e3907 PMID: 19107206
  44. The role of a mutant CCR5 allele in HIV-1 transmission and disease progression.
    Nat Med. 1996 Nov;2(11):1240-3 PMID: 8898752
  45. Human susceptibility and resistance to Norwalk virus infection.
    Nat Med. 2003 May;9(5):548-53 PMID: 12692541
  46. Host genetics and HIV-1: the final phase?
    PLoS Pathog. 2010 Oct 14;6(10):e1001033 PMID: 20976252
  47. Herpes simplex virus encephalitis in human UNC-93B deficiency.
    Science. 2006 Oct 13;314(5797):308-12 PMID: 16973841
  48. Genomewide association study of a rapid progression cohort identifies new susceptibility alleles for AIDS (ANRS Genomewide Association Study 03).
    J Infect Dis. 2009 Oct 15;200(8):1194-201 PMID: 19754311
  49. ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C.
    Nature. 2010 Mar 18;464(7287):405-8 PMID: 20173735
  50. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.
    J Exp Med. 2011 Aug 1;208(8):1635-48 PMID: 21727188
  51. Pyogenic bacterial infections in humans with MyD88 deficiency.
    Science. 2008 Aug 1;321(5889):691-6 PMID: 18669862
  52. A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.
    J Clin Invest. 2003 Oct;112(7):1108-15 PMID: 14523047
  53. Genome-wide association study implicates PARD3B-based AIDS restriction.
    J Infect Dis. 2011 May 15;203(10):1491-502 PMID: 21502085
  54. IRF8 mutations and human dendritic-cell immunodeficiency.
    N Engl J Med. 2011 Jul 14;365(2):127-38 PMID: 21524210
  55. Methodological challenges of genome-wide association analysis in Africa.
    Nat Rev Genet. 2010 Feb;11(2):149-60 PMID: 20084087
  56. Interferons alpha and lambda inhibit hepatitis C virus replication with distinct signal transduction and gene regulation kinetics.
    Gastroenterology. 2006 Dec;131(6):1887-98 PMID: 17087946
  57. Codon 129 genotype and new variant CJD.
    Lancet. 1997 Aug 30;350(9078):668 PMID: 9288076
  58. Intracellular NOD-like receptors in host defense and disease.
    Immunity. 2007 Oct;27(4):549-59 PMID: 17967410
  59. Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CKR5 structural gene. Hemophilia Growth and Development Study, Multicenter AIDS Cohort Study, Multicenter Hemophilia Cohort Study, San Francisco City Cohort, ALIVE Study.
    Science. 1996 Sep 27;273(5283):1856-62 PMID: 8791590
  60. Stepwise replication identifies a low-producing lymphotoxin-alpha allele as a major risk factor for early-onset leprosy.
    Nat Genet. 2007 Apr;39(4):517-22 PMID: 17353895
  61. Effect of NKG2D ligand expression on host immune responses.
    Immunol Rev. 2010 May;235(1):267-85 PMID: 20536569
  62. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
    Nat Genet. 2001 Mar;27(3):277-85 PMID: 11242109
  63. The role of pattern-recognition receptors in innate immunity: update on Toll-like receptors.
    Nat Immunol. 2010 May;11(5):373-84 PMID: 20404851
  64. Genetic and environmental influences on premature death in adult adoptees.
    N Engl J Med. 1988 Mar 24;318(12):727-32 PMID: 3347221
  65. Polymorphic variation in TIRAP is not associated with susceptibility to childhood TB but may determine susceptibility to TBM in some ethnic groups.
    PLoS One. 2009 Aug 20;4(8):e6698 PMID: 19693265
  66. HLA-C cell surface expression and control of HIV/AIDS correlate with a variant upstream of HLA-C.
    Nat Genet. 2009 Dec;41(12):1290-4 PMID: 19935663
  67. A haplotype map of the human genome.
    Nature. 2005 Oct 27;437(7063):1299-320 PMID: 16255080
  68. Immunological and genetic bases of new primary immunodeficiencies.
    Nat Rev Immunol. 2007 Nov;7(11):851-61 PMID: 17960151
  69. Human genetic susceptibility to intracellular pathogens.
    Immunol Rev. 2011 Mar;240(1):105-16 PMID: 21349089
  70. Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease.
    Nature. 2009 Apr 23;458(7241):1039-42 PMID: 19242412
  71. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID).
    Nature. 1995 Sep 7;377(6544):65-8 PMID: 7659163
  72. Polymorphism within the interferon-gamma/receptor complex is associated with pulmonary tuberculosis.
    Am J Respir Crit Care Med. 2006 Aug 1;174(3):339-43 PMID: 16690980
  73. KIR-HLA intercourse in HIV disease.
    Trends Microbiol. 2008 Dec;16(12):620-7 PMID: 18976921
  74. Assay of locus-specific genetic load implicates rare Toll-like receptor 4 mutations in meningococcal susceptibility.
    Proc Natl Acad Sci U S A. 2003 May 13;100(10):6075-80 PMID: 12730365
  75. The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.
    Science. 2010 Dec 10;330(6010):1551-7 PMID: 21051598
  76. Susceptibility to leprosy is associated with PARK2 and PACRG.
    Nature. 2004 Feb 12;427(6975):636-40 PMID: 14737177
  77. Effects of thymic selection of the T-cell repertoire on HLA class I-associated control of HIV infection.
    Nature. 2010 May 20;465(7296):350-4 PMID: 20445539
  78. Low frequency of the TIRAP S180L polymorphism in Africa, and its potential role in malaria, sepsis, and leprosy.
    BMC Med Genet. 2009 Jul 14;10:65 PMID: 19602285
  79. Common NFKBIL2 polymorphisms and susceptibility to pneumococcal disease: a genetic association study.
    Crit Care. 2010;14(6):R227 PMID: 21171993
  80. Hepatitis B virus markers in Chinese twins.
    Anticancer Res. 1989 May-Jun;9(3):737-41 PMID: 2764519
  81. Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma.
    J Exp Med. 2010 Oct 25;207(11):2307-12 PMID: 20876309
  82. Hereditary C2 deficiency in Sweden: frequent occurrence of invasive infection, atherosclerosis, and rheumatic disease.
    Medicine (Baltimore). 2005 Jan;84(1):23-34 PMID: 15643297
  83. Host determinants of HIV-1 control in African Americans.
    J Infect Dis. 2010 Apr 15;201(8):1141-9 PMID: 20205591
  84. Association between presence of HLA-B*5701, HLA-DR7, and HLA-DQ3 and hypersensitivity to HIV-1 reverse-transcriptase inhibitor abacavir.
    Lancet. 2002 Mar 2;359(9308):727-32 PMID: 11888582
  85. The resistance factor to Plasmodium vivax in blacks. The Duffy-blood-group genotype, FyFy.
    N Engl J Med. 1976 Aug 5;295(6):302-4 PMID: 778616
  86. Role of genetic resistance in invasive pneumococcal infection: identification and study of susceptibility and resistance in inbred mouse strains.
    Infect Immun. 2001 Jan;69(1):426-34 PMID: 11119534
  87. Functional and genetic evidence that the Mal/TIRAP allele variant 180L has been selected by providing protection against septic shock.
    Proc Natl Acad Sci U S A. 2009 Jun 23;106(25):10272-7 PMID: 19509334
  88. Protection afforded by sickle-cell trait against subtertian malareal infection.
    Br Med J. 1954 Feb 6;1(4857):290-4 PMID: 13115700
  89. Predisposition to abacavir hypersensitivity conferred by HLA-B*5701 and a haplotypic Hsp70-Hom variant.
    Proc Natl Acad Sci U S A. 2004 Mar 23;101(12):4180-5 PMID: 15024131
  90. Multistage genomewide association study identifies a locus at 1q41 associated with rate of HIV-1 disease progression to clinical AIDS.
    J Infect Dis. 2010 Feb 15;201(4):618-26 PMID: 20064070
  91. Aspects of genetic susceptibility to human infectious diseases.
    Annu Rev Genet. 2006;40:469-86 PMID: 17094741
  92. No association between interferon-gamma receptor-1 gene polymorphism and pulmonary tuberculosis in a Gambian population sample.
    Thorax. 2004 Apr;59(4):291-4 PMID: 15047947
  93. A Mal functional variant is associated with protection against invasive pneumococcal disease, bacteremia, malaria and tuberculosis.
    Nat Genet. 2007 Apr;39(4):523-8 PMID: 17322885
  94. A global network for investigating the genomic epidemiology of malaria.
    Nature. 2008 Dec 11;456(7223):732-7 PMID: 19079050
  95. Variant CJD in an individual heterozygous for PRNP codon 129.
    Lancet. 2009 Dec 19;374(9707):2128 PMID: 20109837
  96. Homozygous defect in HIV-1 coreceptor accounts for resistance of some multiply-exposed individuals to HIV-1 infection.
    Cell. 1996 Aug 9;86(3):367-77 PMID: 8756719
  97. A whole-genome association study of major determinants for host control of HIV-1.
    Science. 2007 Aug 17;317(5840):944-7 PMID: 17641165
  98. Common polymorphisms in the NOD2 gene region are associated with leprosy and its reactive states.
    J Infect Dis. 2010 May 1;201(9):1422-35 PMID: 20350193
  99. CISH and susceptibility to infectious diseases.
    N Engl J Med. 2010 Jun 3;362(22):2092-101 PMID: 20484391
  100. Joint effects of host genetic background and mycobacterial pathogen on susceptibility to infection.
    Infect Immun. 2011 Jun;79(6):2372-8 PMID: 21402756
  101. STAT3 mutations in the hyper-IgE syndrome.
    N Engl J Med. 2007 Oct 18;357(16):1608-19 PMID: 17881745
  102. Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease.
    Nat Genet. 2010 Sep;42(9):772-6 PMID: 20694013
  103. Genomewide association study of leprosy.
    N Engl J Med. 2010 Apr 15;362(15):1446-7; author reply 1447-8 PMID: 20393182
  104. Genetic variation in IL28B and spontaneous clearance of hepatitis C virus.
    Nature. 2009 Oct 8;461(7265):798-801 PMID: 19759533
  105. Association between single-nucleotide polymorphisms in Mal/TIRAP and interleukin-10 genes and susceptibility to invasive haemophilus influenzae serotype b infection in immunized children.
    Clin Infect Dis. 2010 Oct 1;51(7):761-7 PMID: 20804371
  106. Mortality in HIV infection is independently predicted by host iron status and SLC11A1 and HP genotypes, with new evidence of a gene-nutrient interaction.
    Am J Clin Nutr. 2009 Jul;90(1):225-33 PMID: 19474129
  107. Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections.
    Blood. 2006 Jun 15;107(12):4865-70 PMID: 16527897
  108. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    Nature. 2007 Jun 7;447(7145):661-78 PMID: 17554300
  109. A second generation human haplotype map of over 3.1 million SNPs.
    Nature. 2007 Oct 18;449(7164):851-61 PMID: 17943122
  110. Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.
    Medicine (Baltimore). 2010 Nov;89(6):403-425 PMID: 21057262
  111. Is susceptibility to tuberculosis acquired or inherited?
    J Intern Med. 2007 Feb;261(2):106-11 PMID: 17241175
  112. Crohn's disease: an immune deficiency state.
    Clin Rev Allergy Immunol. 2010 Feb;38(1):20-31 PMID: 19437144
  113. First large, multicenter, open-label study utilizing HLA-B*5701 screening for abacavir hypersensitivity in North America.
    AIDS. 2008 Aug 20;22(13):1673-5 PMID: 18670229
  114. Assessment of complement deficiency in patients with meningococcal disease in The Netherlands.
    Clin Infect Dis. 1999 Jan;28(1):98-105 PMID: 10028078
  115. IL-28B predicts response to chronic hepatitis C therapy--fine-mapping and replication study in Asian populations.
    J Gen Virol. 2011 May;92(Pt 5):1071-1081 PMID: 21228123
  116. New class I and II HLA alleles strongly associated with opposite patterns of progression to AIDS.
    J Immunol. 1999 Jun 1;162(11):6942-6 PMID: 10352317
  117. Genetic basis of natural variation in D. melanogaster antibacterial immunity.
    Science. 2004 Mar 19;303(5665):1873-6 PMID: 15031506
  118. Risk alleles for chronic hepatitis B are associated with decreased mRNA expression of HLA-DPA1 and HLA-DPB1 in normal human liver.
    Genes Immun. 2011 Sep;12(6):428-33 PMID: 21346778
  119. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.
    N Engl J Med. 2011 Jul 7;365(1):54-61 PMID: 21714643
  120. Genome-wide and fine-resolution association analysis of malaria in West Africa.
    Nat Genet. 2009 Jun;41(6):657-65 PMID: 19465909
  121. The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes.
    J Exp Med. 2004 Sep 6;200(5):559-68 PMID: 15337789
  122. Genetic epidemiology of tuberculosis susceptibility: impact of study design.
    PLoS Pathog. 2011 Jan 20;7(1):e1001189 PMID: 21283783
  123. Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency.
    Nat Genet. 2003 Mar;33(3):388-91 PMID: 12590259
  124. Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.
    Nat Immunol. 2011 Mar;12(3):213-21 PMID: 21278736
  125. IFNG +874T/A, IL10 -1082G/A and TNF -308G/A polymorphisms in association with tuberculosis susceptibility: a meta-analysis study.
    Hum Genet. 2008 Jun;123(5):477-84 PMID: 18414898
  126. Robert Koch, the Nobel Prize, and the ongoing threat of tuberculosis.
    N Engl J Med. 2005 Dec 8;353(23):2423-6 PMID: 16339091
  127. Genome-wide association studies for complex traits: consensus, uncertainty and challenges.
    Nat Rev Genet. 2008 May;9(5):356-69 PMID: 18398418
  128. Genetic susceptibility to infectious diseases: big is beautiful, but will bigger be even better?
    Lancet Infect Dis. 2006 Oct;6(10):653-63 PMID: 17008174
  129. Disease-causing mutations in genes of the complement system.
    Am J Hum Genet. 2011 Jun 10;88(6):689-705 PMID: 21664996
  130. Host genes associated with HIV/AIDS: advances in gene discovery.
    Trends Genet. 2010 Mar;26(3):119-31 PMID: 20149939
  131. NFKBIZ polymorphisms and susceptibility to pneumococcal disease in European and African populations.
    Genes Immun. 2010 Jun;11(4):319-25 PMID: 19798075
  132. A twin-family study of susceptibility to poliomyelitis.
    Am J Hum Genet. 1951 Mar;3(1):17-46 PMID: 13171372
  133. Mendelian resistance to human norovirus infections.
    Semin Immunol. 2006 Dec;18(6):375-86 PMID: 16973373
  134. Primary immunodeficiencies: a field in its infancy.
    Science. 2007 Aug 3;317(5838):617-9 PMID: 17673650
  135. A common genetic fingerprint in leprosy and Crohn's disease?
    N Engl J Med. 2009 Dec 31;361(27):2666-8 PMID: 20018963
  136. A homozygous CARD9 mutation in a family with susceptibility to fungal infections.
    N Engl J Med. 2009 Oct 29;361(18):1727-35 PMID: 19864672
  137. Genetic risk prediction--are we there yet?
    N Engl J Med. 2009 Apr 23;360(17):1701-3 PMID: 19369656
  138. Genetic variation in IL28B is associated with chronic hepatitis C and treatment failure: a genome-wide association study.
    Gastroenterology. 2010 Apr;138(4):1338-45, 1345.e1-7 PMID: 20060832
  139. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    Nat Genet. 2010 Dec;42(12):1118-25 PMID: 21102463
  140. Associations of MHC ancestral haplotypes with resistance/susceptibility to AIDS disease development.
    J Immunol. 2003 Feb 15;170(4):1925-9 PMID: 12574360
  141. Heredity versus environment in tuberculosis in twins: the 1950s United Kingdom Prophit Survey Simonds and Comstock revisited.
    Am J Respir Crit Care Med. 2007 Dec 15;176(12):1281-8 PMID: 17823356
  142. ITPA polymorphism affects ribavirin-induced anemia and outcomes of therapy--a genome-wide study of Japanese HCV virus patients.
    Gastroenterology. 2010 Oct;139(4):1190-7 PMID: 20637204
  143. The ubiquitin-editing enzyme A20 restricts nucleotide-binding oligomerization domain containing 2-triggered signals.
    Immunity. 2008 Mar;28(3):381-90 PMID: 18342009
  144. A polymorphism in Toll-interleukin 1 receptor domain containing adaptor protein is associated with susceptibility to meningeal tuberculosis.
    J Infect Dis. 2006 Oct 15;194(8):1127-1134 PMID: 16991088
  145. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity.
    Immunity. 2006 Nov;25(5):745-55 PMID: 17088085
  146. IL28B genomic-based treatment paradigms for patients with chronic hepatitis C infection: the future of personalized HCV therapies.
    Am J Gastroenterol. 2011 Jan;106(1):38-45 PMID: 20924369
  147. Mechanisms of GII.4 norovirus persistence in human populations.
    PLoS Med. 2008 Feb;5(2):e31 PMID: 18271619
  148. Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development.
    Science. 1995 Nov 3;270(5237):797-800 PMID: 7481768
  149. IkappaB genetic polymorphisms and invasive pneumococcal disease.
    Am J Respir Crit Care Med. 2007 Jul 15;176(2):181-7 PMID: 17463416
  150. Toll-like receptor and TIRAP gene polymorphisms in pulmonary tuberculosis patients of South India.
    Tuberculosis (Edinb). 2010 Sep;90(5):306-10 PMID: 20797905
  151. Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis.
    Immunity. 2010 Sep 24;33(3):400-11 PMID: 20832341
  152. Pyogenic bacterial infections in humans with IRAK-4 deficiency.
    Science. 2003 Mar 28;299(5615):2076-9 PMID: 12637671
  153. Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study.
    Lancet Neurol. 2009 Jan;8(1):57-66 PMID: 19081515
  154. Uncovering the roles of rare variants in common disease through whole-genome sequencing.
    Nat Rev Genet. 2010 Jun;11(6):415-25 PMID: 20479773
  155. Factor H, a regulator of complement activity, is a major determinant of meningococcal disease susceptibility in UK Caucasian patients.
    Scand J Infect Dis. 2006;38(9):764-71 PMID: 16938729
  156. Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene.
    Nature. 1996 Aug 22;382(6593):722-5 PMID: 8751444
  157. Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
    Nat Genet. 2006 Dec;38(12):1397-405 PMID: 17086182
  158. Influence of genetic variations in TLR4 and TIRAP/Mal on the course of sepsis and pneumonia and cytokine release: an observational study in three cohorts.
    Crit Care. 2010;14(3):R103 PMID: 20525286
  159. Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity.
    Science. 2011 Apr 1;332(6025):65-8 PMID: 21350122
  160. Multiple-cohort genetic association study reveals CXCR6 as a new chemokine receptor involved in long-term nonprogression to AIDS.
    J Infect Dis. 2010 Sep 15;202(6):908-15 PMID: 20704485
  161. Genetic acceleration of AIDS progression by a promoter variant of CCR5.
    Science. 1998 Dec 4;282(5395):1907-11 PMID: 9836644
  162. Genome-wide association of IL28B with response to pegylated interferon-alpha and ribavirin therapy for chronic hepatitis C.
    Nat Genet. 2009 Oct;41(10):1105-9 PMID: 19749757
  163. A homozygous nonsense mutation (428G-->A) in the human secretor (FUT2) gene provides resistance to symptomatic norovirus (GGII) infections.
    J Virol. 2005 Dec;79(24):15351-5 PMID: 16306606
  164. Analysis of association of the TIRAP (MAL) S180L variant and tuberculosis in three populations.
    Nat Genet. 2008 Mar;40(3):261-2; author reply 262-3 PMID: 18305471
  165. Genetic deficiencies of innate immune signalling in human infectious disease.
    Lancet Infect Dis. 2009 Nov;9(11):688-98 PMID: 19850227
  166. Variable host-pathogen compatibility in Mycobacterium tuberculosis.
    Proc Natl Acad Sci U S A. 2006 Feb 21;103(8):2869-73 PMID: 16477032
  167. Human genetic variation and its contribution to complex traits.
    Nat Rev Genet. 2009 Apr;10(4):241-51 PMID: 19293820
  168. Association between CCR5 genotype and the clinical course of HIV-1 infection.
    Ann Intern Med. 1997 Nov 15;127(10):882-90 PMID: 9382366
  169. Leprosy and the adaptation of human toll-like receptor 1.
    PLoS Pathog. 2010 Jul 01;6:e1000979 PMID: 20617178
  170. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).
    Am J Hum Genet. 2000 Dec;67(6):1555-62 PMID: 11047757
  171. Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections.
    J Exp Med. 2003 Aug 18;198(4):521-31 PMID: 12925671
  172. Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).
    J Infect Dis. 2009 Feb 1;199(3):419-26 PMID: 19115949
  173. TLR3 deficiency in patients with herpes simplex encephalitis.
    Science. 2007 Sep 14;317(5844):1522-7 PMID: 17872438
  174. CCR2 polymorphism and HIV disease. Swiss HIV Cohort.
    Nat Med. 1998 Mar;4(3):252-3 PMID: 9500580
  175. Common genetic variation and the control of HIV-1 in humans.
    PLoS Genet. 2009 Dec;5(12):e1000791 PMID: 20041166
  176. Leprosy and the human genome.
    Microbiol Mol Biol Rev. 2010 Dec;74(4):589-620 PMID: 21119019
Article Info
Journal
Nature reviews. Genetics
Abbr.
Nat Rev Genet
ISSN
1471-0064
Published
2012-02-07
Epub
2012-00-07
Pages
175-88
Language
English
Region
England
NLM ID
100962779
Subset
IM
Grants
Wellcome Trust · 090532 · United Kingdom
Wellcome Trust · 095540 · United Kingdom
Medical Research Council · G1001712 · United Kingdom
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: [email protected]