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
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
-
Year 2011,
Volume: 24 Issue: 2, 126 - 130, 21.04.2015
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
Eroğlu Altınova, A., & Yetkin, İ. (2015). Tip 1 Diabetes Mellitus’a Yatkınlıkta Rolü Olabilecek Genetik Faktörler. Marmara Medical Journal, 24(2), 126-130.
AMA
Eroğlu Altınova A, Yetkin İ. Tip 1 Diabetes Mellitus’a Yatkınlıkta Rolü Olabilecek Genetik Faktörler. Marmara Med J. August 2015;24(2):126-130.
Chicago
Eroğlu Altınova, Alev, and İlhan Yetkin. “Tip 1 Diabetes Mellitus’a Yatkınlıkta Rolü Olabilecek Genetik Faktörler”. Marmara Medical Journal 24, no. 2 (August 2015): 126-30.
EndNote
Eroğlu Altınova A, Yetkin İ (August 1, 2015) Tip 1 Diabetes Mellitus’a Yatkınlıkta Rolü Olabilecek Genetik Faktörler. Marmara Medical Journal 24 2 126–130.
IEEE
A. Eroğlu Altınova and İ. Yetkin, “Tip 1 Diabetes Mellitus’a Yatkınlıkta Rolü Olabilecek Genetik Faktörler”, Marmara Med J, vol. 24, no. 2, pp. 126–130, 2015.
ISNAD
Eroğlu Altınova, Alev - Yetkin, İlhan. “Tip 1 Diabetes Mellitus’a Yatkınlıkta Rolü Olabilecek Genetik Faktörler”. Marmara Medical Journal 24/2 (August 2015), 126-130.
JAMA
Eroğlu Altınova A, Yetkin İ. Tip 1 Diabetes Mellitus’a Yatkınlıkta Rolü Olabilecek Genetik Faktörler. Marmara Med J. 2015;24:126–130.
MLA
Eroğlu Altınova, Alev and İlhan Yetkin. “Tip 1 Diabetes Mellitus’a Yatkınlıkta Rolü Olabilecek Genetik Faktörler”. Marmara Medical Journal, vol. 24, no. 2, 2015, pp. 126-30.
Vancouver
Eroğlu Altınova A, Yetkin İ. Tip 1 Diabetes Mellitus’a Yatkınlıkta Rolü Olabilecek Genetik Faktörler. Marmara Med J. 2015;24(2):126-30.