Tip 1 Diabetes Mellitus'a Yatkınlıkta Rolü Olabilecek Genetik Faktörler
Year 2011,
Volume: 24 Issue: 2, 126 - 130, 21.04.2015
Alev Eroğlu Altınova
,
İlhan Yetkin
Abstract
Tip 1 diabetes mellitus pankreas beta hücrelerinin immün aracılı harabiyeti ile karakterize olan ve genetik olarak yatkın bireylerde çevresel faktörlerin etkisi sonucu gelişen kronik otoimmün bir hastalıktır. İnsidansı dünya çapında giderek artmaktadır. Etiyolojisi karmaşıktır ve halen tam bilinmemektedir. Bu derlemede tip 1 diyabete yatkınlıkla ilişkili olabilecek olası genetik faktörler tartışılacaktır.
Anahtar Kelimeler: Tip 1 diyabet, Yatkınlık, Genetik faktörler
References
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- 23. Morahan G, Huang D, Tait BD, et al. Markers on distal chromosome 2q linked to insulin-dependent diabetes mellitus. Science 1996;272:1811-3. doi: 10.1126/science.272.5269.1811
- 24. Larsen ZM, Kristiansen OP, Mato E, et al. IDDM12 (CTLA4) on 2q33 and IDDM13 on 2q34 in genetic susceptibility to type 1 diabetes (insulin-dependent). Autoimmunity 1999;31:35-42. doi: 10.3109/08916939908993857
- 25. Delepine M, Pociot F, Habita C, et al. Evidence of a non-MHC susceptibility locus in type I diabetes linked to HLA on chromosome 6. Am J Hum Genet 1997;60:174-87.
- 26. Nerup J, Pociot F. European Consortium for IDDM Studies. A genomewide scan for type 1-diabetes susceptibility in Scandinavian families: identification of new loci with evidence of interactions. Am J Hum Genet 2001;69:1301-13. doi:10.1086/324341
- 27. Verge CF, Vardi P, Babu S, et al. Evidence for oligogenic inheritance of type 1 diabetes in a large Bedouin Arab family. J Clin Invest 1998;102:1569- 75. doi:10.1172/JCI3379
- 28. Morahan G, Huang D, Ymer SI, et al. Linkage disequilibrium of a type 1 diabetes susceptibility locus with a regulatory IL12B allele. Nat Genet 2001;27:218- 21. doi:10.1038/84872
- 29. Altinova AE, Engin D, Akbay E, et al. Association of polymorphisms in the IL-18 and IL-12 genes with susceptibility to Type 1 diabetes in Turkish patients. J Endocrinol Invest 2010;33:451-4. doi: 10.3275/6766
- 30. Sanjeevi CB. Genes influencing innate and acquired immunity in type 1 diabetes and latent autoimmune diabetes in adults. 2006;1079:67-80. doi:10.1196/annals.1375.010
- 31. Asano K, Ikegami H, Fujisawa T,et al. The gene for human IL-21 and genetic susceptibility to type 1 diabetes in the Japanese. 2006; 1079: 47-50. doi:10.1196/annals.1375.007
- 32. Mojtahedi Z, Naeimi S, Farjadian S, et al. Association of IL-18 promoter polymorphisms with predisposition to Type 1 diabetes. Diabet Med 2006;23:235-9. doi: 10.1111/j.1464- 5493.2006.01786.x
- 33. Martin RJ, Savage DA, Carson DJ ve ark. Interleukin 18 promoter polymorphisms are not strongly associated with type I diabetes in a UK population. Genes Immun 2005;6:171-4. doi:10.1038/sj.gene.6364161
- 34. Viken MK, Sollid HD, Joner G, et al. Polymorphisms in the cathepsin L2 (CTSL2) gene show association with type 1 diabetes and early-onset myasthenia gravis. 2007;68:748-55. doi:10.1016/j.humimm.2007.05.009
- 35. Roach JC, Deutsch K, Li S, et al. Genetic mapping at 3-kilobase resolution reveals inositol 1,4,5- triphosphate receptor 3 as a risk factor for type 1 diabetes in Sweden. Am J Hum Genet 2006;79:614-27. doi:10.1086/507876
- 36. Biason-Lauber A, Boehm B, Lang-Muritano M ve ark. Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity. 2005;48:900-5. doi:10.1007/s00125-005-1723-5
- 37. Araujo J, Brandao LA, Guimaraes RL, et al. Mannose binding lectin gene polymorphisms are associated with type 1 diabetes in Brazilian children and adolescents. Hum Immunol 2007; 68: 739-43. doi:10.1016/j.humimm.2007.05.00
- 38. Taniyama M, Maruyama T, Tozaki T, et al. Association of PTPN22 haplotypes with type 1 diabetes in the Japanese population. 2010;71:795- 8.
- 39. Skrabic V, Zemunik T, Situm M, et al. Vitamin D receptor polymorphism and susceptibility to type 1 diabetes in the Dalmatian population. 2003;59:31-5. doi:10.1016/S0168-8227(02)00195-X
- 40. Guo SW, Magnuson VL, Schiller J, et al. Metaanalysis of vitamin D receptor polymorphisms and type 1 diabetes: a HuGE review of genetic association studies. 2006;164:711-24. doi: 10.1093/aje/kwj278
- 41. Klinker MW, Schiller J, Magnuson VL, et al. Singlenucleotide polymorphisms in the IL2RA gene are associated with age at diagnosis in late-onset Finnish type 1 diabetes subjects. 2010;62:101-7. doi: 10.1007/s00251-009-0417-4
- 42. Mohebbatikaljahi H, Menevse S, Yetkin I, et al. Study of interleukin-10 promoter region polymorphisms (- 1082A/G, -819T/C and -592A/C) in type 1 diabetes mellitus in Turkish population. J Genet 2009;88:245-8. doi: 10.1007/s 12041- 009034-x
- 43. Hober D, Sauter P.Pathogenesis of type 1 diabetes mellitus: interplay between enterovirus and host. 2010;6:279-89. doi:10.1038/nrendo.2010.27
Year 2011,
Volume: 24 Issue: 2, 126 - 130, 21.04.2015
Alev Eroğlu Altınova
,
İlhan Yetkin
References
- 1. Eisenbarth GS. Type 1 diabetes mellitus. In:Kahn CR, Weir GC, King GL, et.al., editors. Joslin's Diabetes Mellitus. 14 th edition. USA; Joslin Diabetes Center, 14th edition. USA; Joslin Diabetec Center, 2005:399- 424.
- 2. Tuomilehto J, Karvonen M, Pitkaniemi J, et al. Recordhigh incidence of Type I (insulin-dependent) diabetes mellitus in Finnish children. The Finnish Childhood Type Diabetes Registry Group. Diabetologia 1999;42:655- 60. doi: 10.1007/s001250051212
- 3. Hawkes CH. Twin studies in diabetes mellitus. Diabet Med 1997;14:347-52. doi: 10.1002/(SICI) 1096- 9136(199705) 14:5<347::AIDDIA332>3.0.CO;2-7
- 4. Todd JA. From genome to aetiology in a multifactorial disease, type 1 diabetes. Bioessays 1999;21:164-74. doi:10.1002/(SICI) 1521- 1878(199902) 21:2<164::AID BIES10>3.3.CO;2-W
- 5. el-Hashimy M, Angelico MC, Martin BC, et al. Factors modifying the risk of IDDM in offspring of an IDDM parent . Diabetes 1995; 44: 295-9. doi:10.2337/diabetes.44.3.295
- 6. Pugliese A. Genetics of type 1 diabetes. Endocrinol Metab Clin North Am 2004;33:1-16. doi: 10.1016/SO889- 8529 (03) 00082-3
- 7. Martin AM, Maxson MN, Leif J, et al. Diabetesprone and diabetes-resistant BB rats share a common major diabetes susceptibility locus, iddm4: additional evidence for a "universal autoimmunity locus" on rat chromosome 4. Diabetes 1999; 48: 2138-44. Doi:10.2337/diabetes.48.11.2138
- 8. Onengut-Gumuscu S, Concannon P. Mapping genes for autoimmunity in humans: type 1 diabetes as a model. Immunol Rev 2002;190:182-94. doi: 10.1034/j.1600- 065X.2002.19014.x
- 9. Yetkin I, Sancak A, Karakoç A, ark. Tip 1 diabetes mellituslu olgularda human lökosit antijenleri. Türk Diabet Yıllığı 1997-1998;13:212-17.
- 10. Dorman JS, Bunker CH. HLA-DQ locus of the human leukocyte antigen complex and type 1 diabetes mellitus: a HuGE review. Epidemiol Rev 2000;22:218-27.
- 11. Gedik O. Diabetes Mellitus'un patogenezi, komplikasyonları. Koloğlu S, editör. Endokrinoloji Temel ve Klinik. İkinci baskı. Ankara: Medikal & Nobel, 2005:342-67.
- 12. Bell GI, Horita S, Karam JH. A polymorphic locus near the human insulin gene is associated with insulindependent diabetes mellitus. Diabetes 1984;33:176- 83. doi: 10.2337/diabetes.33.2.176
- 13. Concannon P, Gogolin-Ewens KJ, Hinds DA, et al. A second-generation screen of the human genome for susceptibility to insulin-dependent diabetes
- mellitus. Nat Genet 1998;19:292-6. doi:10.1038/985 14. Mein CA, Esposito L, Dunn MG, et al. A search for type 1 diabetes susceptibility genes in families from the United Kingdom. Nat Genet 1998;19:297-300. doi:10.1038/991
- 15. Davies JL, Kawaguchi Y, Bennett ST, et al. A genomewide search for human type 1 diabetes susceptibility genes. Nature 1994;371:130-6. doi: 10.1038/371130a0
- 16. Wang CY, Podolsky R, She JX. Genetic and functional evidence supporting SUMO4 as a type 1 diabetes susceptibility gene. 2006;1079:257-67. doi: 10.1196/annals.1375.039
- 17. Aribi M. Candidate genes implicated in type 1 diabetes susceptibility. 2008; 4: 110-21. doi: 10.2174/157339908784220723
- 18. Hodge SE, Anderson CE, Neiswanger K, et al. Close genetic linkage between diabetes mellitus and kidd blood group. Lancet 1981;24:893-5. doi:10.1016/S0140- 6736(81) 91391-X
- 19. Merriman T, Twells R, Merriman M, et al. Evidence by allelic association-dependent methods for a type 1 diabetes polygene (IDDM6) on chromosome 18q21. Hum Mol Genet 1997; 6: 1003-10. doi:10.1093/hmg/6.7.1003
- 20. Esposito L, Hill NJ, Pritchard LE, et al. Genetic analysis of chromosome 2 in type 1 diabetes: analysis of putative loci IDDM7, IDDM12, and IDDM13 and candidate genes NRAMP1 and IA-2 and the interleukin-1 gene cluster. IMDIAB Group. Diabetes 1998;47:1797-9. doi: 10.2337/diabetes.47.11.1797
- 21. Field LL, Tobias R, Thomson G ve ark. Susceptibility to insulin-dependent diabetes mellitus maps to a locus (IDDM11) on human chromosome 14q24.3-q31. Genomics 1996;33:1-8. doi: 10.1006/geno.1996.0153
- 22. Balic I, Angel B, Codner E, et al. Association of CTLA- 4 polymorphisms and clinical-immunologic characteristics at onset of type 1 diabetes mellitus in children.2009;70:116-20. doi: 10.1016/j.humimm.2008.12.007
- 23. Morahan G, Huang D, Tait BD, et al. Markers on distal chromosome 2q linked to insulin-dependent diabetes mellitus. Science 1996;272:1811-3. doi: 10.1126/science.272.5269.1811
- 24. Larsen ZM, Kristiansen OP, Mato E, et al. IDDM12 (CTLA4) on 2q33 and IDDM13 on 2q34 in genetic susceptibility to type 1 diabetes (insulin-dependent). Autoimmunity 1999;31:35-42. doi: 10.3109/08916939908993857
- 25. Delepine M, Pociot F, Habita C, et al. Evidence of a non-MHC susceptibility locus in type I diabetes linked to HLA on chromosome 6. Am J Hum Genet 1997;60:174-87.
- 26. Nerup J, Pociot F. European Consortium for IDDM Studies. A genomewide scan for type 1-diabetes susceptibility in Scandinavian families: identification of new loci with evidence of interactions. Am J Hum Genet 2001;69:1301-13. doi:10.1086/324341
- 27. Verge CF, Vardi P, Babu S, et al. Evidence for oligogenic inheritance of type 1 diabetes in a large Bedouin Arab family. J Clin Invest 1998;102:1569- 75. doi:10.1172/JCI3379
- 28. Morahan G, Huang D, Ymer SI, et al. Linkage disequilibrium of a type 1 diabetes susceptibility locus with a regulatory IL12B allele. Nat Genet 2001;27:218- 21. doi:10.1038/84872
- 29. Altinova AE, Engin D, Akbay E, et al. Association of polymorphisms in the IL-18 and IL-12 genes with susceptibility to Type 1 diabetes in Turkish patients. J Endocrinol Invest 2010;33:451-4. doi: 10.3275/6766
- 30. Sanjeevi CB. Genes influencing innate and acquired immunity in type 1 diabetes and latent autoimmune diabetes in adults. 2006;1079:67-80. doi:10.1196/annals.1375.010
- 31. Asano K, Ikegami H, Fujisawa T,et al. The gene for human IL-21 and genetic susceptibility to type 1 diabetes in the Japanese. 2006; 1079: 47-50. doi:10.1196/annals.1375.007
- 32. Mojtahedi Z, Naeimi S, Farjadian S, et al. Association of IL-18 promoter polymorphisms with predisposition to Type 1 diabetes. Diabet Med 2006;23:235-9. doi: 10.1111/j.1464- 5493.2006.01786.x
- 33. Martin RJ, Savage DA, Carson DJ ve ark. Interleukin 18 promoter polymorphisms are not strongly associated with type I diabetes in a UK population. Genes Immun 2005;6:171-4. doi:10.1038/sj.gene.6364161
- 34. Viken MK, Sollid HD, Joner G, et al. Polymorphisms in the cathepsin L2 (CTSL2) gene show association with type 1 diabetes and early-onset myasthenia gravis. 2007;68:748-55. doi:10.1016/j.humimm.2007.05.009
- 35. Roach JC, Deutsch K, Li S, et al. Genetic mapping at 3-kilobase resolution reveals inositol 1,4,5- triphosphate receptor 3 as a risk factor for type 1 diabetes in Sweden. Am J Hum Genet 2006;79:614-27. doi:10.1086/507876
- 36. Biason-Lauber A, Boehm B, Lang-Muritano M ve ark. Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity. 2005;48:900-5. doi:10.1007/s00125-005-1723-5
- 37. Araujo J, Brandao LA, Guimaraes RL, et al. Mannose binding lectin gene polymorphisms are associated with type 1 diabetes in Brazilian children and adolescents. Hum Immunol 2007; 68: 739-43. doi:10.1016/j.humimm.2007.05.00
- 38. Taniyama M, Maruyama T, Tozaki T, et al. Association of PTPN22 haplotypes with type 1 diabetes in the Japanese population. 2010;71:795- 8.
- 39. Skrabic V, Zemunik T, Situm M, et al. Vitamin D receptor polymorphism and susceptibility to type 1 diabetes in the Dalmatian population. 2003;59:31-5. doi:10.1016/S0168-8227(02)00195-X
- 40. Guo SW, Magnuson VL, Schiller J, et al. Metaanalysis of vitamin D receptor polymorphisms and type 1 diabetes: a HuGE review of genetic association studies. 2006;164:711-24. doi: 10.1093/aje/kwj278
- 41. Klinker MW, Schiller J, Magnuson VL, et al. Singlenucleotide polymorphisms in the IL2RA gene are associated with age at diagnosis in late-onset Finnish type 1 diabetes subjects. 2010;62:101-7. doi: 10.1007/s00251-009-0417-4
- 42. Mohebbatikaljahi H, Menevse S, Yetkin I, et al. Study of interleukin-10 promoter region polymorphisms (- 1082A/G, -819T/C and -592A/C) in type 1 diabetes mellitus in Turkish population. J Genet 2009;88:245-8. doi: 10.1007/s 12041- 009034-x
- 43. Hober D, Sauter P.Pathogenesis of type 1 diabetes mellitus: interplay between enterovirus and host. 2010;6:279-89. doi:10.1038/nrendo.2010.27