메뉴 건너뛰기




Volumn 13, Issue 7, 2005, Pages 849-855

Haplotype construction of the FRDA gene and evaluation of its role in type ll diabetes

Author keywords

Association study; FRDA; Linkage disequilibrium; Meta analysis; Type II diabetes

Indexed keywords

FRATAXIN;

EID: 21744460536     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201413     Document Type: Article
Times cited : (9)

References (35)
  • 1
    • 0031851293 scopus 로고    scopus 로고
    • Definition, diagnosis and classification of diabetes mellitus and its complications. Part 1: Diagnosis and classification of diabetes mellitus provisional report of a WHO consultation
    • Alberti KG, Zimmet PZ: Definition, diagnosis and classification of diabetes mellitus and its complications. Part 1: diagnosis and classification of diabetes mellitus provisional report of a WHO consultation. Diab Med 1998; 15: 539-553.
    • (1998) Diab. Med. , vol.15 , pp. 539-553
    • Alberti, K.G.1    Zimmet, P.Z.2
  • 3
    • 13344270899 scopus 로고    scopus 로고
    • Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    • Campuzano V, Montermini L, Molto MD et al: Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996; 271: 1423-1427.
    • (1996) Science , vol.271 , pp. 1423-1427
    • Campuzano, V.1    Montermini, L.2    Molto, M.D.3
  • 4
    • 9044243415 scopus 로고    scopus 로고
    • A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2
    • Hanis CL, Boerwinkle E, Chakraborty R et al: A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2. Nat Genet 1996; 13: 161-166.
    • (1996) Nat. Genet. , vol.13 , pp. 161-166
    • Hanis, C.L.1    Boerwinkle, E.2    Chakraborty, R.3
  • 5
    • 18244399128 scopus 로고    scopus 로고
    • Genomewide search for type 2 diabetes mellitus susceptibility loci in Finnish families: The Botnia study
    • Lindgren CM, Mahtani MM, Widen E et al: Genomewide search for type 2 diabetes mellitus susceptibility loci in Finnish families: the Botnia study. Am J Hum Genet 2002; 70: 509-516.
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 509-516
    • Lindgren, C.M.1    Mahtani, M.M.2    Widen, E.3
  • 6
    • 0035058351 scopus 로고    scopus 로고
    • A genome-wide search for Type II diabetes susceptibility genes in Chinese Hans
    • Luo TH, Zhao Y, Li G et al: A genome-wide search for Type II diabetes susceptibility genes in Chinese Hans. Diabetologia 2001; 44: 501-506.
    • (2001) Diabetologia , vol.44 , pp. 501-506
    • Luo, T.H.1    Zhao, Y.2    Li, G.3
  • 7
    • 0032522927 scopus 로고    scopus 로고
    • An autosomal genomic scan for loci linked to prediabetic phenotypes in Pima Indians
    • Pratley RE, Thompson DB, Prochazka M et al: An autosomal genomic scan for loci linked to prediabetic phenotypes in Pima Indians. J Clin Invest 1998; 101: 1757-1764.
    • (1998) J. Clin. Invest. , vol.101 , pp. 1757-1764
    • Pratley, R.E.1    Thompson, D.B.2    Prochazka, M.3
  • 8
    • 0031942841 scopus 로고    scopus 로고
    • Sib-pair linkage analysis for susceptibility genes for microvascular complications among Pima Indians with type 2 diabetes
    • Pima Diabetes Genes Group
    • Imperatore G, Hanson RL, Pettitt DJ, Kobes S, Bennett PH, Knowler WC: Sib-pair linkage analysis for susceptibility genes for microvascular complications among Pima Indians with type 2 diabetes. Pima Diabetes Genes Group. Diabetes 1998; 47: 821-830.
    • (1998) Diabetes , vol.47 , pp. 821-830
    • Imperatore, G.1    Hanson, R.L.2    Pettitt, D.J.3    Kobes, S.4    Bennett, P.H.5    Knowler, W.C.6
  • 10
    • 9844222853 scopus 로고    scopus 로고
    • Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
    • Campuzano V, Montermini L, Lutz Y et al: Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 1997; 6: 1771-1780.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 1771-1780
    • Campuzano, V.1    Montermini, L.2    Lutz, Y.3
  • 11
    • 0030846021 scopus 로고    scopus 로고
    • Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
    • Babcock M, de Silva D, Oaks R et al: Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science 1997; 276: 1709-1712.
    • (1997) Science , vol.276 , pp. 1709-1712
    • Babcock, M.1    de Silva, D.2    Oaks, R.3
  • 12
    • 0038054341 scopus 로고    scopus 로고
    • PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes
    • Mootha VK, Lindgren CM, Eriksson KF et al: PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet 2003; 34: 267-273.
    • (2003) Nat. Genet. , vol.34 , pp. 267-273
    • Mootha, V.K.1    Lindgren, C.M.2    Eriksson, K.F.3
  • 13
    • 0029757676 scopus 로고    scopus 로고
    • The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia
    • Filla A, De Michele G, Cavalcanti F et al: The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 1996; 59: 554-560.
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 554-560
    • Filla, A.1    De Michele, G.2    Cavalcanti, F.3
  • 14
    • 0033058680 scopus 로고    scopus 로고
    • Altered beta-cell characteristics in impaired glucose tolerant carriers of a GAA trinucleotide repeat polymorphism in the frataxin gene
    • t'Hart LM, Ruige JB, Dekker JM, Stehouwer CD, Maassen JA, Heine RJ: Altered beta-cell characteristics in impaired glucose tolerant carriers of a GAA trinucleotide repeat polymorphism in the frataxin gene. Diabetes 1999; 48: 924-926.
    • (1999) Diabetes , vol.48 , pp. 924-926
    • t'Hart, L.M.1    Ruige, J.B.2    Dekker, J.M.3    Stehouwer, C.D.4    Maassen, J.A.5    Heine, R.J.6
  • 15
    • 0033054726 scopus 로고    scopus 로고
    • Intermediate expansions of a GAA repeat in the frataxin gene are not associated with type 2 diabetes or altered glucose-induced beta-cell function in Danish Caucasians
    • Dalgaard LT, Hansen T, Urhammer SA, Clausen JO, Eiberg H, Pedersen O: Intermediate expansions of a GAA repeat in the frataxin gene are not associated with type 2 diabetes or altered glucose-induced beta-cell function in Danish Caucasians. Diabetes 1999; 48: 914-917.
    • (1999) Diabetes , vol.48 , pp. 914-917
    • Dalgaard, L.T.1    Hansen, T.2    Urhammer, S.A.3    Clausen, J.O.4    Eiberg, H.5    Pedersen, O.6
  • 16
    • 0031690198 scopus 로고    scopus 로고
    • No association between the Friedreich's ataxia gene and NIDDM in the French population
    • Dupont S, Dubois D, Vionnet N et al: No association between the Friedreich's ataxia gene and NIDDM in the French population. Diabetes 1998; 47: 1654-1656.
    • (1998) Diabetes , vol.47 , pp. 1654-1656
    • Dupont, S.1    Dubois, D.2    Vionnet, N.3
  • 17
    • 0034103709 scopus 로고    scopus 로고
    • Intermediate expansions of a X25/frataxin gene GAA repeat and type II diabetes: Assessment using parent-offspring trios
    • Lynn S, Hattersley AT, McCarthy MI, Frayling TM, Turnbull DM, Walker M: Intermediate expansions of a X25/frataxin gene GAA repeat and type II diabetes: assessment using parent-offspring trios. Diabetologia 2000; 43: 384-385.
    • (2000) Diabetologia , vol.43 , pp. 384-385
    • Lynn, S.1    Hattersley, A.T.2    McCarthy, M.I.3    Frayling, T.M.4    Turnbull, D.M.5    Walker, M.6
  • 18
    • 0031919090 scopus 로고    scopus 로고
    • An association between NIDDM and a GAA trinucleotide repeat polymorphism in the X25/frataxin (Friedreich's ataxia) gene
    • Ristow M, Giannakidou E, Hebinck J et al: An association between NIDDM and a GAA trinucleotide repeat polymorphism in the X25/frataxin (Friedreich's ataxia) gene. Diabetes 1998; 47: 851-854.
    • (1998) Diabetes , vol.47 , pp. 851-854
    • Ristow, M.1    Giannakidou, E.2    Hebinck, J.3
  • 19
    • 0036116953 scopus 로고    scopus 로고
    • Association of polymorphic trinucleotide repeat (GAA)n of the Frataxin gene with diabetes mellitus type 2 in the Moscow population
    • Shadrina MI, Miloserdova OV, Slominskii PA, Balabolkin MI, Limborskaiia SA: Association of polymorphic trinucleotide repeat (GAA)n of the Frataxin gene with diabetes mellitus type 2 in the Moscow population. Mol Boil (Mosk) 2002; 36: 37-39.
    • (2002) Mol. Boil. (Mosk) , vol.36 , pp. 37-39
    • Shadrina, M.I.1    Miloserdova, O.V.2    Slominskii, P.A.3    Balabolkin, M.I.4    Limborskaiia, S.A.5
  • 20
    • 0003014882 scopus 로고    scopus 로고
    • Metabolic consequences of a family history of NIDDM (the Botnia study): Evidence for sex-specific parental effects
    • Groop L, Forsblom C, Lehtovirta M et al: Metabolic consequences of a family history of NIDDM (the Botnia study): evidence for sex-specific parental effects. Diabetes 1996; 45: 1585-1593.
    • (1996) Diabetes , vol.45 , pp. 1585-1593
    • Groop, L.1    Forsblom, C.2    Lehtovirta, M.3
  • 21
    • 0034128587 scopus 로고    scopus 로고
    • Insulin secretion and insulin sensitivity in relation to glucose tolerance: Lessons from the Botnia Study
    • Tripathy D, Carlsson M, Almgren P et al: Insulin secretion and insulin sensitivity in relation to glucose tolerance: lessons from the Botnia Study. Diabetes 2000; 49: 975-980.
    • (2000) Diabetes , vol.49 , pp. 975-980
    • Tripathy, D.1    Carlsson, M.2    Almgren, P.3
  • 22
    • 15444359998 scopus 로고    scopus 로고
    • Predictors of progression from impaired glucose tolerance to NIDDM: An analysis of six prospective studies
    • Edelstein SL, Knowler WC, Bain RP et al: Predictors of progression from impaired glucose tolerance to NIDDM: an analysis of six prospective studies. Diabetes 1997; 46: 701-710.
    • (1997) Diabetes , vol.46 , pp. 701-710
    • Edelstein, S.L.1    Knowler, W.C.2    Bain, R.P.3
  • 23
    • 0033042346 scopus 로고    scopus 로고
    • Impaired fasting glucose or impaired glucose tolerance. What best predicts future diabetes in Mauritius?
    • Shaw JE, Zimmet PZ, de Courten M et al: Impaired fasting glucose or impaired glucose tolerance. What best predicts future diabetes in Mauritius? Diabetes Care 1999; 22: 399-402.
    • (1999) Diabetes Care , vol.22 , pp. 399-402
    • Shaw, J.E.1    Zimmet, P.Z.2    de Courten, M.3
  • 24
    • 0032231941 scopus 로고    scopus 로고
    • PedCheck: A program for identification of genotype incompatibilities in linkage analysis
    • O'Connell JR, Weeks DE: PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 1998; 63: 259-266.
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 259-266
    • O'Connell, J.R.1    Weeks, D.E.2
  • 25
    • 12244264435 scopus 로고    scopus 로고
    • Genetic power calculator: Design of linkage and association genetic mapping studies of complex traits
    • Purcell S, Cherny SS, Sham PC: Genetic power calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 2003; 19: 149-150.
    • (2003) Bioinformatics , vol.19 , pp. 149-150
    • Purcell, S.1    Cherny, S.S.2    Sham, P.C.3
  • 26
    • 18444369013 scopus 로고    scopus 로고
    • The structure of haplotype blocks in the human genome
    • Gabriel SB, Schaffner SF, Nguyen H et al: The structure of haplotype blocks in the human genome. Science 2002; 296: 2225-2229.
    • (2002) Science , vol.296 , pp. 2225-2229
    • Gabriel, S.B.1    Schaffner, S.F.2    Nguyen, H.3
  • 27
    • 0027377799 scopus 로고
    • Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM)
    • Spielman RS, McGinnis RE, Ewens WJ: Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993; 52: 506-516.
    • (1993) Am. J. Hum. Genet. , vol.52 , pp. 506-516
    • Spielman, R.S.1    McGinnis, R.E.2    Ewens, W.J.3
  • 28
    • 0029886532 scopus 로고    scopus 로고
    • Parametric and nonparametric linkage analysis: A unified multipoint approach
    • Kruglyak L, Daly MJ, Reeve Daly MP, Lander ES: Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 1996; 58: 1347-1363.
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 1347-1363
    • Kruglyak, L.1    Daly, M.J.2    Reeve Daly, M.P.3    Lander, E.S.4
  • 29
    • 0033237335 scopus 로고    scopus 로고
    • A generalization of the transmission/disequilibrium test for
    • Clayton D: A generalization of the transmission/disequilibrium test for. Am J Hum Genet 1999; 65: 1170-1177.
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 1170-1177
    • Clayton, D.1
  • 30
  • 31
    • 3042641333 scopus 로고    scopus 로고
    • 2LD, GENECOUNTING and HAP: Computer programs for linkage disequilibrium analysis
    • Zhao JH: 2LD, GENECOUNTING and HAP: computer programs for linkage disequilibrium analysis. Bioinformatics 2004; 20: 1325-1326.
    • (2004) Bioinformatics , vol.20 , pp. 1325-1326
    • Zhao, J.H.1
  • 32
    • 0033624575 scopus 로고    scopus 로고
    • The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes
    • Altshuler D, Hirschhorn JN, Klannemark M et al: The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet 2000; 26: 76-80.
    • (2000) Nat. Genet. , vol.26 , pp. 76-80
    • Altshuler, D.1    Hirschhorn, J.N.2    Klannemark, M.3
  • 33
    • 0037317981 scopus 로고    scopus 로고
    • Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes
    • Gloyn AL, Weedon MN, Owen KR et al: Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. Diabetes 2003; 52: 568-572.
    • (2003) Diabetes , vol.52 , pp. 568-572
    • Gloyn, A.L.1    Weedon, M.N.2    Owen, K.R.3
  • 34
    • 0033786787 scopus 로고    scopus 로고
    • Linkage Disequilibrium and the Search for Complex Disease Genes
    • Jorde LB: Linkage Disequilibrium and the Search for Complex Disease Genes. Genome Res 2000; 10: 1435-1444.
    • (2000) Genome Res. , vol.10 , pp. 1435-1444
    • Jorde, L.B.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.