Natural killer cell immunoglobulin like receptor molecules KIR ; Evolution, polimorphism and association with diseases

Year 2013, Volume: 5 Issue: 1, 36 - 39, 01.04.2013

Dr. Müge Ataç Dr. Pınar Buket

Abstract

Natural killer NK cells are members of the lymphocyte family, which has critical functions in immune defense system and reproduction. Immunoglobulin like receptors molecules KIR and HLA receptor ligands carry out these functions together. Role of the NK cells in immune system defense and reproduction are conserved. Inhibitory and activatory KIR haplotips, group A and B, respectively , evolved via balancing natural selection in humans. Evolutionary adaptation of the immun system genes to the changing environmental conditions leads to polymorphism. KIR molecules are the second most polymorphic family in human genome following the major histocompatibility complex. Polymorphism of the KIR family enables the KIR genes to be utilized a strong genetic marker for some diseases especially infectious diseases . Mismatch between KIR and HLA has been first reported after an allogenic transplantation. However, several individuals from different ethnical backgrounds must be studied in order to better appreciate the relation between the MHC/KIR gene polymorphism and transplantation, chronic infectious and autoimmune diseases.

Keywords

KIR, HLA, KIR polimorphism, infectious diseases

Öldürücü hücre immünoglobulin benzeri reseptör KIR molekülleri; Evrimi, polimorfizmi ve hastalıklarla ilişkisi

Abstract

Doğal Öldürücü hücreler NK , immün savunma sistemi ve üreme sürecinde önemli katkıları olan lenfosit ailesinin bir üyesidir. Üreme ve savunma sistemindeki bu aktiviteler öldürücü immünoglobulin-benzeri reseptör KIR molekülleri ve HLA reseptör ligand sistemi ile birlikte yürütülür. NK hücrelerin immun savunma sistemi ve üremedeki rolleri nesiller boyu değişmeden kalmıştır. İnsanlarda dengeleyici seçilim baskısı ile inhibitör ve aktivatör etkisi olan, sırasıyla A ve B grubu KIR haplotipleri evrimleşmiştir. Polimorfizm değişen çevre şartları ile karşılaşan immün sistemdeki genlerin evrimsel adaptasyonundan kaynaklanır. Major doku uygunluk kompleksinden sonra, insan genomunda en polimorfik aile KIR molekülleridir. Bu yaygın polimorfizm, KIR gen ailesinin, bazı hastalıklarla- özellikle NK hücrelerinin enfeksiyon hastalıkları ile ilişkisini saptayan kuvvetli bir genetik gösterge olmasını sağlar. KIR/HLA uyumsuzluğu ilk olarak allogenik transplantasyon sonunda bildirilmiştir; ancak, MHC/KIR gen polimorfizmleri ile transplantasyon, kronik enfeksiyonlar ve otoimmün hastalıklar arasındaki ilişkisini daha iyi anlamak için, farklı etnik kökene sahip çok sayıda bireyde yapılacak polimorfizm çalışması gereklidir.

Keywords

KIR, HLA, KIR polimorfizmi, infeksiyon hastalıkları

References

• Aug; 39 (4): 194-212. Guinan KJ, Cunningham RT, Meenagh A, Gonzalez A, Wilson MJ, Torkar M, Haude A, Milne S, Jones T, Sheer D, Dring MM, McGuinness BW, Middleton D, Gardiner CM. Signatures of natural selection and coevolution between killer cell immunoglobulin-like receptors (KIR) and HLA class I genes. Genes Immun. 2010 Sep; 11( 6):467-78.
• Derek Middleton and Faviel Gonzelez. The extensive Beck S, Trowsdale J.Plasticity in the organization and sequences of human KIR/ILT gene families. Proc Natl Acad Sci U S A. 2000 Apr 25; 97 (9): 4778-4783.
• Ping Jin and Ena Wang Polymorphism in clinical immunology – From HLA typing to immunogenetic profiling Journal of Translational Medicine 2003, 1:8
• Sanchez-Mazas A, Fernandez-Viña M, Middleton D, Holle (1): 8–19. Rajalingam R. Human diversity of killer cell bach JA, Buhler S, Di D, et al. Immunogenetics as a tool in anthropological studies. Immunology .2011 Jun; 133 (2): 164. Hematol. 2011 Dec; 46 (4): 216-28.
• Blackstock AJ, Gatei W, Hightower A, van Eijk AM, Ayisi J, Alter G, Teigen N, Davis Natural killer cells and viral Otieno J, et al. Differential association of gene content polymorphisms of killer cellimmunoglobulin-like receptors with placental malaria in HIV-and HIV+ mothers. PLoS One. 2012;7 (6): e38617. infections. Curr Opın Immunolog 2003; 15: 45-51.
• Galit Alter, Nickolas Teigen, Benjamin T. Davis, Marylyn M. Addo, Todd J. Suscovich, Michael T. Waring, et al. Sequentual deregulation of NK cell subset distribution and function starting in acute HIV-1 infection. Blood ; 106:366-369
• Rajalingam, Lisbeth A. Guethlein,1 and Peter Parham. Human-Specific Evolution and Adaptation Led to Major Qualitative Differences in the Variable Receptors of Human and Chimpanzee Natural Killer Cells PLoS Genet. 2010 November; 6 (11): e1001192.
• Carrington M. O'Brien SJ. The influnce of HLA genotype on AIDS. Annual Rev Med 2003; 54: 535-551
• Martin MP, Gao X, Lee JH. Epistatic interaction between KIR3DS1 and HLA-B delays progression to AIDS. Nat Genet 2002; 31: 429-434.
• Human-specific evolution of killer cell immunoglobulin- like receptor recognition of major histocompatibility complex class I molecules. Parham P, Norman PJ, Abi- Rached L, Guethlein LA. Philos Trans R Soc Lond B Biol Sci. 2012 Mar 19; 367(1590):800-11.
• Suzuki Y, Hamamoto Y, Ogasawara Y. Genetic polymorp- hism of killer cell ımmunoglobulin-like receptors are associated with suspectibility to psoriasis vulgaris. J Invest Dermatol 2004; 122:1133-1136.
• Singh KM, Phung YT, Kohla MS, Lan BY, Chan S, Suen DL, Holm SJ, Sakuraha K, Mallbris L. KIR genotype associates et al. KIR genotypic diversity can track ancestries in heterogeneous populations: a potential confounder for disease association studies. Immunogenetics. 2012; 64 (2): 97-109 with guttate psoriasis. J Invest Dermatol 2005; 125: 721
• Van der Slik AR, Koeleman BP, Verduijn W. KIR in type I diabetes: disperate distribution of activating and inhibitory natural killer cell receptors in patients versus HLA-matched control subjects. Diabetes 2003; 52: 2639- demonstrates rapid evolution of the killer immunoglobulin-like receptor (KIR) loci in primates.
• Genome Res. 2005 Jan; 15 (1): 25-35.
• Momot T, Koch S, Hunzelmann N. Association of killer cell immunoglobulin-like receptors with scleroderma. Arthritis Rheum 2004; 50: 1561-1565.
• Palacios C, Cuervo LC, Cadavid LF. Evolutionary patterns of killer cell Ig-like receptor genes in Old World monkeys. Gene. 2011 Mar 15; 474 (1-2): 39-51
• Derek Middleton and Faviel Gonzelez. The extensive Beck S, Trowsdale J.Plasticity in the organization and sequences of human KIR/ILT gene families. Proc Natl Acad Sci U S A. 2000 Apr 25; 97 (9): 4778-4783.
• Ping Jin and Ena Wang Polymorphism in clinical immunology – From HLA typing to immunogenetic profiling Journal of Translational Medicine 2003, 1:8
• Sanchez-Mazas A, Fernandez-Viña M, Middleton D, Holle (1): 8–19. Rajalingam R. Human diversity of killer cell bach JA, Buhler S, Di D, et al. Immunogenetics as a tool in anthropological studies. Immunology .2011 Jun; 133 (2): 164. Hematol. 2011 Dec; 46 (4): 216-28.
• Blackstock AJ, Gatei W, Hightower A, van Eijk AM, Ayisi J, Alter G, Teigen N, Davis Natural killer cells and viral Otieno J, et al. Differential association of gene content polymorphisms of killer cellimmunoglobulin-like receptors with placental malaria in HIV-and HIV+ mothers. PLoS One. 2012;7 (6): e38617. infections. Curr Opın Immunolog 2003; 15: 45-51.
• Galit Alter, Nickolas Teigen, Benjamin T. Davis, Marylyn M. Addo, Todd J. Suscovich, Michael T. Waring, et al. Sequentual deregulation of NK cell subset distribution and function starting in acute HIV-1 infection. Blood ; 106:366-369
• Rajalingam, Lisbeth A. Guethlein,1 and Peter Parham. Human-Specific Evolution and Adaptation Led to Major Qualitative Differences in the Variable Receptors of Human and Chimpanzee Natural Killer Cells PLoS Genet. 2010 November; 6 (11): e1001192.
• Carrington M. O'Brien SJ. The influnce of HLA genotype on AIDS. Annual Rev Med 2003; 54: 535-551
• Martin MP, Gao X, Lee JH. Epistatic interaction between KIR3DS1 and HLA-B delays progression to AIDS. Nat Genet 2002; 31: 429-434.
• Human-specific evolution of killer cell immunoglobulin- like receptor recognition of major histocompatibility complex class I molecules. Parham P, Norman PJ, Abi- Rached L, Guethlein LA. Philos Trans R Soc Lond B Biol Sci. 2012 Mar 19; 367(1590):800-11.
• Suzuki Y, Hamamoto Y, Ogasawara Y. Genetic polymorp- hism of killer cell ımmunoglobulin-like receptors are associated with suspectibility to psoriasis vulgaris. J Invest Dermatol 2004; 122:1133-1136.
• Singh KM, Phung YT, Kohla MS, Lan BY, Chan S, Suen DL, Holm SJ, Sakuraha K, Mallbris L. KIR genotype associates et al. KIR genotypic diversity can track ancestries in heterogeneous populations: a potential confounder for disease association studies. Immunogenetics. 2012; 64 (2): 97-109 with guttate psoriasis. J Invest Dermatol 2005; 125: 721
• Van der Slik AR, Koeleman BP, Verduijn W. KIR in type I diabetes: disperate distribution of activating and inhibitory natural killer cell receptors in patients versus HLA-matched control subjects. Diabetes 2003; 52: 2639- demonstrates rapid evolution of the killer immunoglobulin-like receptor (KIR) loci in primates.
• Genome Res. 2005 Jan; 15 (1): 25-35.
• Momot T, Koch S, Hunzelmann N. Association of killer cell immunoglobulin-like receptors with scleroderma. Arthritis Rheum 2004; 50: 1561-1565.
• Palacios C, Cuervo LC, Cadavid LF. Evolutionary patterns of killer cell Ig-like receptor genes in Old World monkeys. Gene. 2011 Mar 15; 474 (1-2): 39-51