메뉴 건너뛰기




Volumn 102, Issue 12, 2011, Pages 468-475

Perspectives on the contribution of genetics to the pathogenesis of type 2 diabetes mellitus;Il contributo della genetica alla patogenesi del diabete mellito di tipo 2

Author keywords

Genetic susceptibility; GWAS; HMGA1; Insulin receptor; Insulin resistance; Linkage analysis; Type 2 diabetes mellitus

Indexed keywords

GENETIC VARIABILITY; GENETICS; HUMAN; INSULIN RESISTANCE; NON INSULIN DEPENDENT DIABETES MELLITUS; PATHOGENESIS; REVIEW;

EID: 84855679374     PISSN: 00341193     EISSN: 20381840     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (8)

References (53)
  • 1
    • 79959936188 scopus 로고    scopus 로고
    • National, regional, and global trends in fasting plasma glucose and diabetes prevalence since 1980: Systematic analysis of health examination surveys and epidemiological studies with 370 country-years and 2.7 million participants
    • Global Burden of Metabolic Risk Factors of Chronic Diseases Collaborating Group (Blood Glucose)
    • Danaei G, Finucane MM, Lu Y, et al. Global Burden of Metabolic Risk Factors of Chronic Diseases Collaborating Group (Blood Glucose). National, regional, and global trends in fasting plasma glucose and diabetes prevalence since 1980: systematic analysis of health examination surveys and epidemiological studies with 370 country-years and 2.7 million participants. Lancet 2011; 378: 31-40.
    • (2011) Lancet , vol.378 , pp. 31-40
    • Danaei, G.1    Finucane, M.M.2    Lu, Y.3
  • 2
    • 2342466734 scopus 로고    scopus 로고
    • Global Prevalence of Diabetes: Estimates for the year 2000 and projections for 2030
    • DOI 10.2337/diacare.27.5.1047
    • Wild S, Roglic G, Green A, Sicree R, King H. Global prevalence of diabetes: estimates for the year 2000 and projections for 2030. Diabetes Care 2004; 27: 1047-53. (Pubitemid 38579764)
    • (2004) Diabetes Care , vol.27 , Issue.5 , pp. 1047-1053
    • Wild, S.1    Roglic, G.2    Green, A.3    Sicree, R.4    King, H.5
  • 3
    • 0029993074 scopus 로고    scopus 로고
    • Epidemiology of late diabetic complications: A basis for the development and evaluation of preventive programs
    • DOI 10.1016/S0889-8529(05)70322-4
    • Krolewski AS, Warram JH, Freire MB. Epidemiology of late diabetic complications. A basis for the development and evaluation of preventive programs. Endocrinol Metab Clin North Am 1996; 25: 217-42. (Pubitemid 26195619)
    • (1996) Endocrinology and Metabolism Clinics of North America , vol.25 , Issue.2 , pp. 217-242
    • Krolewski, A.S.1    Warram, J.H.2    Freire, M.B.S.3
  • 4
    • 45849141304 scopus 로고    scopus 로고
    • Type 2 diabetes: pathogenesis and treatment
    • DOI 10.1016/S0140-6736(08)60932-0, PII S0140673608609320
    • Stumvoll M, Goldstein BJ, van Haeften TW. Type 2 diabetes: pathogenesis and treatment. Lancet 2008; 371: 2153-6. (Pubitemid 351885026)
    • (2008) The Lancet , vol.371 , Issue.9631 , pp. 2153-2156
    • Stumvoll, M.1    Goldstein, B.J.2    Van Haeften, T.W.3
  • 5
    • 40749152739 scopus 로고    scopus 로고
    • Reinventing type 2 diabetes: Pathogenesis, treatment, and prevention
    • DOI 10.1001/jama.299.10.1185
    • Unger RH. Reinventing type 2 diabetes: pathogenesis, treatment, and prevention. JAMA 2008; 299: 1185-7. (Pubitemid 351398434)
    • (2008) JAMA - Journal of the American Medical Association , vol.299 , Issue.10 , pp. 1185-1187
    • Unger, R.H.1
  • 7
    • 0036166596 scopus 로고    scopus 로고
    • Risk of diabetes in siblings of index cases with Type 2 diabetes: Implications for genetic studies
    • DOI 10.1046/j.1464-5491.2002.00624.x
    • Weijnen CF, Rich SS, Meigs JB, Krolewski AS, Warram JH. Risk of diabetes in siblings of index cases with Type 2 diabetes: implications for genetic studies. Diabet Med 2002; 19: 41-50. (Pubitemid 34146636)
    • (2002) Diabetic Medicine , vol.19 , Issue.1 , pp. 41-50
    • Weijnen, C.F.1    Rich, S.S.2    Meigs, J.B.3    Krolewski, A.S.4    Warram, J.H.5
  • 8
    • 0026199190 scopus 로고
    • Prevalence of diabetes in Mexican-Americans, Cubans, and Puerto Ricans from the Hispanic Health and Nutrition Examination Survey 1982-1984
    • Flegal KM, Ezzati TM, Harris MI, et al. Prevalence of diabetes in Mexican-Americans, Cubans, and Puerto Ricans from the Hispanic Health and Nutrition Examination Survey 1982-1984. Diabetes Care 1991; 14: 628-38.
    • (1991) Diabetes Care , vol.14 , pp. 628-638
    • Flegal, K.M.1    Ezzati, T.M.2    Harris, M.I.3
  • 9
    • 70349566593 scopus 로고
    • Diabetes mellitus: A "thrifty" genotype rendered detrimental by "progress"?
    • Neel JV. Diabetes mellitus: a "thrifty" genotype rendered detrimental by "progress"? Am J Hum Genet 1962; 14: 353-62.
    • (1962) Am J Hum Genet , vol.14 , pp. 353-362
    • Neel, J.V.1
  • 10
    • 84855668400 scopus 로고    scopus 로고
    • Accessed January 2011
    • WHO. Obesity. http://www.who.int/topics/obesity/ (Accessed January 2011).
    • Obesity
  • 11
    • 0024160877 scopus 로고
    • Role of insulin resistance in human disease
    • Reaven GM. Banting lecture 1988. Role of insulin resistance in human disease. Diabetes 1988; 37: 1595-607. (Pubitemid 19004941)
    • (1988) Diabetes , vol.37 , Issue.12 , pp. 1595-1607
    • Reaven, G.M.1
  • 13
    • 55649105963 scopus 로고    scopus 로고
    • Clinical risk factors, DNA variants, and the development of type 2 diabetes
    • Lyssenko V, Jonsson A, Almgren P, et al. Clinical risk factors, DNA variants, and the development of type 2 diabetes. N Engl J Med 2008; 359: 2220-32.
    • (2008) N Engl J Med , vol.359 , pp. 2220-2232
    • Lyssenko, V.1    Jonsson, A.2    Almgren, P.3
  • 14
    • 50049086521 scopus 로고    scopus 로고
    • The emerging genetic architecture of type 2 diabetes
    • Doria A, Patti ME, Kahn CR. The emerging genetic architecture of type 2 diabetes. Cell Metab 2008; 8: 186-200.
    • (2008) Cell Metab , vol.8 , pp. 186-200
    • Doria, A.1    Patti, M.E.2    Kahn, C.R.3
  • 16
    • 0033772073 scopus 로고    scopus 로고
    • Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus
    • Horikawa Y, Oda N, Cox NJ, et al. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat Genet 2000; 26: 163-75.
    • (2000) Nat Genet , vol.26 , pp. 163-175
    • Horikawa, Y.1    Oda, N.2    Cox, N.J.3
  • 17
    • 32544451924 scopus 로고    scopus 로고
    • Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes
    • Grant SF, Thorleifsson G, Reynisdottir I, et al. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat Genet 2006; 38: 320-3.
    • (2006) Nat Genet , vol.38 , pp. 320-323
    • Grant, S.F.1    Thorleifsson, G.2    Reynisdottir, I.3
  • 18
    • 77954143522 scopus 로고    scopus 로고
    • Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
    • Voight BF, Scott LJ, Steinthorsdottir V, et al. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet 2010; 42: 579-89.
    • (2010) Nat Genet , vol.42 , pp. 579-589
    • Voight, B.F.1    Scott, L.J.2    Steinthorsdottir, V.3
  • 19
    • 42349106044 scopus 로고    scopus 로고
    • Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
    • DOI 10.1038/ng.120, PII NG120
    • Zeggini E, Scott LJ, Saxena R, et al. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet 2008; 40: 638-45. (Pubitemid 351601209)
    • (2008) Nature Genetics , vol.40 , Issue.5 , pp. 638-645
    • Zeggini, E.1    Scott, L.J.2    Saxena, R.3    Voight, B.F.4
  • 20
    • 75749086085 scopus 로고    scopus 로고
    • New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
    • Dupuis J, Langenberg C, Prokopenko I, et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet 2010; 42: 105-16.
    • (2010) Nat Genet , vol.42 , pp. 105-116
    • Dupuis, J.1    Langenberg, C.2    Prokopenko, I.3
  • 26
    • 72449122779 scopus 로고    scopus 로고
    • Parental origin of sequence variants associated with complex diseases
    • Kong A, Steinthorsdottir V, Masson G, et al. Parental origin of sequence variants associated with complex diseases. Nature 2009; 462: 868-74.
    • (2009) Nature , vol.462 , pp. 868-874
    • Kong, A.1    Steinthorsdottir, V.2    Masson, G.3
  • 27
    • 33847176604 scopus 로고    scopus 로고
    • A genome-wide association study identifies novel risk loci for type 2 diabetes
    • Sladek R, Rocheleau G, Rung J, et al. A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature 2007; 445: 881-5.
    • (2007) Nature , vol.445 , pp. 881-885
    • Sladek, R.1    Rocheleau, G.2    Rung, J.3
  • 28
    • 79952231642 scopus 로고    scopus 로고
    • Functional variants of the HMGA1 gene and type 2 diabetes mellitus
    • Chiefari E, Tanyolac S., Paonessa F, et al. Functional variants of the HMGA1 gene and type 2 diabetes mellitus. JAMA 2011; 305: 903-12.
    • (2011) JAMA , vol.305 , pp. 903-912
    • Chiefari, E.1    Tanyolac, S.2    Paonessa, F.3
  • 29
    • 0027367546 scopus 로고
    • Aminoacid polymorphisms of insulin receptor substrate-1 in non-inslin-dependent diabetes mellitus
    • DOI 10.1016/0140-6736(93)92694-O
    • Almind K, Bjorbaek C, Vestergaard H, Hansen T, Echwald S, Pedersen O. Aminoacid polymorphisms of insulin receptor substrate-1 in noninsulin- dependent diabetes mellitus. Lancet 1993; 342: 828-32. (Pubitemid 23285910)
    • (1993) Lancet , vol.342 , Issue.8875 , pp. 828-832
    • Almind, K.1    Bjorbaek, C.2    Vestergaard, H.3    Hansen, T.4    Echwald, S.5    Pedersen, O.6
  • 30
    • 0031773333 scopus 로고    scopus 로고
    • + channel gene (KIR6.2/BIR): A meta-analysis suggests a role in the polygenic basis of Type II diabetes mellitus in Caucasians
    • DOI 10.1007/s001250051098
    • Hani EH, Boutin P, Durand E, et al. Missense mutations in the pancreatic islet beta cell inwardly rectifying K+ channel gene (KIR6.2/BIR): a meta-analysis suggests a role in the polygenic basis of type II diabetes mellitus in Caucasians. Diabetologia 1998; 41: 1511-5. (Pubitemid 28551623)
    • (1998) Diabetologia , vol.41 , Issue.12 , pp. 1511-1515
    • Hani, E.H.1    Boutin, P.2    Durand, E.3    Inoue, H.4    Permutt, M.A.5    Velho, G.6    Froguel, P.7
  • 31
    • 50449085212 scopus 로고    scopus 로고
    • SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations
    • Unoki H, Takahashi A, Kawaguchi T, et al. SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations. Nat Genet 2008; 40: 1098-102.
    • (2008) Nat Genet , vol.40 , pp. 1098-1102
    • Unoki, H.1    Takahashi, A.2    Kawaguchi, T.3
  • 32
    • 50449085998 scopus 로고    scopus 로고
    • Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus
    • Yasuda K, Miyake K, Horikawa Y, et al. Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus. Nat Genet 2008; 40: 1092-7.
    • (2008) Nat Genet , vol.40 , pp. 1092-1097
    • Yasuda, K.1    Miyake, K.2    Horikawa, Y.3
  • 33
    • 58149175669 scopus 로고    scopus 로고
    • Common variant in MTNR1B associated with increased risk of type 2 diabetes and impaired early insulin secretion
    • Lyssenko V, Nagorny CL, Erdos MR, et al. Common variant in MTNR1B associated with increased risk of type 2 diabetes and impaired early insulin secretion. Nat Genet 2009; 41: 82-8.
    • (2009) Nat Genet , vol.41 , pp. 82-88
    • Lyssenko, V.1    Nagorny, C.L.2    Erdos, M.R.3
  • 34
    • 58149175143 scopus 로고    scopus 로고
    • A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk
    • Bouatia-Naji N, Bonnefond A, Cavalcanti-Proenca C, et al. A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk. Nat Genet 2009; 41: 89-94.
    • (2009) Nat Genet , vol.41 , pp. 89-94
    • Bouatia-Naji, N.1    Bonnefond, A.2    Cavalcanti-Proenca, C.3
  • 35
    • 58149156287 scopus 로고    scopus 로고
    • Variants in MTNR1B influence fasting glucose levels
    • Prokopenko I, Langenberg C, Florez JC, et al. Variants in MTNR1B influence fasting glucose levels. Nat Genet 2009; 41: 77-81.
    • (2009) Nat Genet , vol.41 , pp. 77-81
    • Prokopenko, I.1    Langenberg, C.2    Florez, J.C.3
  • 37
    • 77649214654 scopus 로고    scopus 로고
    • A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese
    • Tsai FJ, Yang CF, Chen CC, et al. A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese. PLoS Genet 2010; 6: e1000847.
    • (2010) PLoS Genet , vol.6
    • Tsai, F.J.1    Yang, C.F.2    Chen, C.C.3
  • 38
    • 77954172286 scopus 로고    scopus 로고
    • Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes
    • Qi L, Cornelis MC, Kraft P, et al. Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes. Hum Mol Genet 2010; 19: 2706-15.
    • (2010) Hum Mol Genet , vol.19 , pp. 2706-2715
    • Qi, L.1    Cornelis, M.C.2    Kraft, P.3
  • 41
    • 63349087565 scopus 로고    scopus 로고
    • Genome-wide association studies in type 2 diabetes
    • McCarthy MI, Zeggini E. Genome-wide association studies in type 2 diabetes. Curr Diab Rep 2009; 9: 164-71.
    • (2009) Curr Diab Rep , vol.9 , pp. 164-171
    • McCarthy, M.I.1    Zeggini, E.2
  • 42
    • 77951858557 scopus 로고    scopus 로고
    • Detailed physiologic characterization reveals diverse mechanisms for novel genetic loci regulating glucose and insulin metabolism in humans
    • Ingelsson E, Langenberg C, Hivert MF, et al. Detailed physiologic characterization reveals diverse mechanisms for novel genetic loci regulating glucose and insulin metabolism in humans. Diabetes 2010; 59: 1266-75.
    • (2010) Diabetes , vol.59 , pp. 1266-1275
    • Ingelsson, E.1    Langenberg, C.2    Hivert, M.F.3
  • 44
    • 77449099615 scopus 로고    scopus 로고
    • TCF7L2 Variant rs7903146 Affects the Risk of Type 2 Diabetes by Modulating Incretin Action
    • Villareal DT, Robertson H, Bell GI, et al. TCF7L2 Variant rs7903146 Affects the Risk of Type 2 Diabetes by Modulating Incretin Action. Diabetes 2010; 59: 479-85.
    • (2010) Diabetes , vol.59 , pp. 479-485
    • Villareal, D.T.1    Robertson, H.2    Bell, G.I.3
  • 45
    • 67349224047 scopus 로고    scopus 로고
    • Melatonin receptors in pancreatic islets: Good morning to a novel type 2 diabetes gene
    • Mulder H, Nagorny CL, Lyssenko V, Groop L. Melatonin receptors in pancreatic islets: good morning to a novel type 2 diabetes gene. Diabetologia 2009; 52: 1240-9.
    • (2009) Diabetologia , vol.52 , pp. 1240-1249
    • Mulder, H.1    Nagorny, C.L.2    Lyssenko, V.3    Groop, L.4
  • 46
    • 74249123937 scopus 로고    scopus 로고
    • Overexpression of alpha2A-adrenergic receptors contributes to type 2 diabetes
    • Rosengren AH, Jokubka R, Tojjar D, et al. Overexpression of alpha2A-adrenergic receptors contributes to type 2 diabetes. Science 2010; 327: 217-20.
    • (2010) Science , vol.327 , pp. 217-220
    • Rosengren, A.H.1    Jokubka, R.2    Tojjar, D.3
  • 47
    • 0030358586 scopus 로고    scopus 로고
    • High-mobility-group chromosomal proteins: Architectural components that facilitate chromatin function
    • Bustin M, Reeves R. High-mobility-group chromosomal proteins: architectural components that facilitate chromatin function. Prog Nucleic Acid Res Mol Biol 1996; 54: 35-100.
    • (1996) Prog Nucleic Acid Res Mol Biol , vol.54 , pp. 35-100
    • Bustin, M.1    Reeves, R.2
  • 48
    • 0030048931 scopus 로고    scopus 로고
    • Human diabetes associated with defects in nuclear regulatory proteins for the insulin receptor gene
    • Brunetti A, Brunetti L, Foti D, Accili D, Goldfine ID. Human diabetes associated with defects in nuclear regulatory proteins for the insulin receptor gene. J Clin Invest 1996; 97: 258-62. (Pubitemid 26021716)
    • (1996) Journal of Clinical Investigation , vol.97 , Issue.1 , pp. 258-262
    • Brunetti, A.1    Brunetti, L.2    Foti, D.3    Accili, D.4    Goldfine, I.O.5
  • 49
    • 0035128347 scopus 로고    scopus 로고
    • Transcriptional regulation of human insulin receptor gene by the high-mobility group protein HMGI(Y)
    • DOI 10.1096/fj.00-0190com
    • Brunetti A, Manfioletti G, Chiefari E, Goldfine ID, Foti D. Transcriptional regulation of human insulin receptor gene by the high-mobility group protein HMGI(Y). FASEB J 2001; 15: 492-500. (Pubitemid 32141441)
    • (2001) FASEB Journal , vol.15 , Issue.2 , pp. 492-500
    • Brunetti, A.1    Manfioletti, G.2    Chiefari, E.3    Goldfine, I.D.4    Foti, D.5
  • 50
    • 0037385239 scopus 로고    scopus 로고
    • A nucleoprotein complex containing Sp1, C/EBPbeta, and HMGI-Y controls human insulin receptor gene transcription
    • DOI 10.1128/MCB.23.8.2720-2732.2003
    • Foti D, Iuliano R, Chiefari E, Brunetti A. A nucleoprotein complex containing Sp1, C/EBP beta, and HMGI-Y controls human insulin receptor gene transcription. Mol Cell Biol 2003; 23: 2720-32. (Pubitemid 36403073)
    • (2003) Molecular and Cellular Biology , vol.23 , Issue.8 , pp. 2720-2732
    • Foti, D.1    Iuliano, R.2    Chiefari, E.3    Brunetti, A.4
  • 52
    • 67649881278 scopus 로고    scopus 로고
    • The cAMP-HMGA1- RBP4 system: A novel biochemical pathway for modulating glucose homeostasis
    • Chiefari E, Paonessa F, Iiritano S, et al. The cAMP-HMGA1- RBP4 system: a novel biochemical pathway for modulating glucose homeostasis. BMC Biol 2009; 7: 24.
    • (2009) BMC Biol , vol.7 , pp. 24
    • Chiefari, E.1    Paonessa, F.2    Iiritano, S.3
  • 53
    • 77951630215 scopus 로고    scopus 로고
    • Individualizing therapies in type 2 diabetes mellitus based on patient characteristics: What we know and what we need to know
    • Smith RJ, Nathan DM, Arslanian SA, Groop L, Rizza RA, Rotter JI. Individualizing therapies in type 2 diabetes mellitus based on patient characteristics: what we know and what we need to know. J Clin Endocrinol Metab 2010; 95: 1566-74.
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. 1566-1574
    • Smith, R.J.1    Nathan, D.M.2    Arslanian, S.A.3    Groop, L.4    Rizza, R.A.5    Rotter, J.I.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.