Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Erbliche Diabetesneigung

Die erbliche Diabetesneigung ist durch eine Reihe an genetischen Variationen in unterschiedlichen Genen definiert. Die Anfälligekeit für eine Entwicklung eines Typ 2 Diabetes schließt auch eine Insulinresistenz mit ein.

Gliederung

Diabetes mellitus
Autoimmundiabetes
Diabetische Nephropathie
Diabetische Retinopathie
Erbliche Diabetesneigung
IRS1
MAPK8IP1
PDX1
SH2B1
TBC1D1
Gestationsdiabetes
Insulinresistenz
MODY Diabetes
Mitochondrialer Diabetes mellitus
Neonataler Diabetes mellitus
Nichtinsulinabhängiger Diabetes mellitus 1
Pankreopriver Diabetes mellitus
Schwere Fettsucht mit Typ 2 Diabetes

Referenzen:

1.

Halsall DJ et. al. (2003) Typical type 2 diabetes mellitus and HFE gene mutations: a population-based case - control study.

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2.

Fajans SS et al. (2001) Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young.

[^]
3.

Triggs-Raine BL et al. (2002) HNF-1alpha G319S, a transactivation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community.

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4.

Shimajiri Y et al. (2001) A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese.

[^]
5.

Gudmundsson J et al. (2007) Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes.

[^]
6.

Babenko AP et al. (2006) Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

[^]
7.

Mammarella S et al. (2000) Interaction between the G1057D variant of IRS-2 and overweight in the pathogenesis of type 2 diabetes.

[^]
8.

et al. (2007) Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.

[^]
9.

Scott LJ et al. (2007) A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.

[^]
10.

Zeggini E et al. (2007) Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.

[^]
11.

et al. (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

[^]
12.

Sandhu MS et al. (2007) Common variants in WFS1 confer risk of type 2 diabetes.

[^]
13.

Savage DB et al. (2002) Digenic inheritance of severe insulin resistance in a human pedigree.

[^]
14.

Hanson RL et al. (1998) An autosomal genomic scan for loci linked to type II diabetes mellitus and body-mass index in Pima Indians.

[^]
15.

Elbein SC et al. (1999) Heritability of pancreatic beta-cell function among nondiabetic members of Caucasian familial type 2 diabetic kindreds.

[^]
16.

Elbein SC et al. (1999) A genome-wide search for type 2 diabetes susceptibility genes in Utah Caucasians.

[^]
17.

Chung YS et al. (2000) HMG-CoA reductase inhibitors increase BMD in type 2 diabetes mellitus patients.

[^]
18.

Piatti PM et al. (2000) Alterations in nitric oxide/cyclic-GMP pathway in nondiabetic siblings of patients with type 2 diabetes.

[^]
19.

Fakhrai-Rad H et al. (2000) Insulin-degrading enzyme identified as a candidate diabetes susceptibility gene in GK rats.

[^]
20.

Altshuler D et al. (2000) The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes.

[^]
21.

Ghosh S et al. (2000) The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. I. An autosomal genome scan for genes that predispose to type 2 diabetes.

[^]
22.

Watanabe RM et al. (2000) The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. II. An autosomal genome scan for diabetes-related quantitative-trait loci.

[^]
23.

Vionnet N et al. (2000) Genomewide search for type 2 diabetes-susceptibility genes in French whites: evidence for a novel susceptibility locus for early-onset diabetes on chromosome 3q27-qter and independent replication of a type 2-diabetes locus on chromosome 1q21-q24.

[^]
24.

Hart AW et al. (2000) Attenuation of FGF signalling in mouse beta-cells leads to diabetes.

[^]
25.

Li H et al. (2001) Possible human leukocyte antigen-mediated genetic interaction between type 1 and type 2 Diabetes.

[^]
26.

Aljada A et al. (2001) Nuclear factor-kappaB suppressive and inhibitor-kappaB stimulatory effects of troglitazone in obese patients with type 2 diabetes: evidence of an antiinflammatory action?

[^]
27.

Yuan M et al. (2001) Reversal of obesity- and diet-induced insulin resistance with salicylates or targeted disruption of Ikkbeta.

[^]
28.

Mori Y et al. (2002) Genome-wide search for type 2 diabetes in Japanese affected sib-pairs confirms susceptibility genes on 3q, 15q, and 20q and identifies two new candidate Loci on 7p and 11p.

[^]
29.

Poulton J et al. (2002) Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study.

[^]
30.

van Tilburg JH et al. (2003) A genome-wide scan in type 2 diabetes mellitus provides independent replication of a susceptibility locus on 18p11 and suggests the existence of novel Loci on 2q12 and 19q13.

[^]
31.

Petersen KF et al. (2003) Mitochondrial dysfunction in the elderly: possible role in insulin resistance.

[^]
32.

Reynisdottir I et al. (2003) Localization of a susceptibility gene for type 2 diabetes to chromosome 5q34-q35.2.

[^]
33.

Demenais F et al. (2003) A meta-analysis of four European genome screens (GIFT Consortium) shows evidence for a novel region on chromosome 17p11.2-q22 linked to type 2 diabetes.

[^]
34.

Garber AJ et al. (2003) Efficacy of glyburide/metformin tablets compared with initial monotherapy in type 2 diabetes.

[^]
35.

Martin BC et al. (1992) Role of glucose and insulin resistance in development of type 2 diabetes mellitus: results of a 25-year follow-up study.

[^]
36.

Petersen KF et al. (2004) Impaired mitochondrial activity in the insulin-resistant offspring of patients with type 2 diabetes.

[^]
37.

Möhlig M et al. (2004) Body mass index and C-174G interleukin-6 promoter polymorphism interact in predicting type 2 diabetes.

[^]
38.

Illig T et al. (2004) Significant association of the interleukin-6 gene polymorphisms C-174G and A-598G with type 2 diabetes.

[^]
39.

Do DV et al. (2005) Persistent diabetic macular edema is associated with elevated hemoglobin A1c.

[^]
40.

O'Rahilly S et al. (1992) Multipoint linkage analysis of the short arm of chromosome 11 in non-insulin dependent diabetes including maturity onset diabetes of youth.

[^]
41.

Foti D et al. (2005) Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice.

[^]
42.

Maeda S et al. (2005) Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus.

[^]
43.

Scheuner D et al. (2005) Control of mRNA translation preserves endoplasmic reticulum function in beta cells and maintains glucose homeostasis.

[^]
44.

Yang Q et al. (2005) Serum retinol binding protein 4 contributes to insulin resistance in obesity and type 2 diabetes.

[^]
45.

Mohlke KL et al. (2005) Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns.

[^]
46.

Graham TE et al. (2006) Retinol-binding protein 4 and insulin resistance in lean, obese, and diabetic subjects.

[^]
47.

Martinez-Marignac VL et al. (2007) Admixture in Mexico City: implications for admixture mapping of type 2 diabetes genetic risk factors.

[^]
48.

Shtir C et al. (2007) Subsets of Finns with high HDL to total cholesterol ratio show evidence for linkage to type 2 diabetes on chromosome 6q.

[^]
49.

Fuku N et al. (2007) Mitochondrial haplogroup N9a confers resistance against type 2 diabetes in Asians.

[^]
50.

Sladek R et al. (2007) A genome-wide association study identifies novel risk loci for type 2 diabetes.

[^]
51.

Aeberli I et al. (2007) Serum retinol-binding protein 4 concentration and its ratio to serum retinol are associated with obesity and metabolic syndrome components in children.

[^]
52.

Matsuzaka T et al. (2007) Crucial role of a long-chain fatty acid elongase, Elovl6, in obesity-induced insulin resistance.

[^]
53.

Sparsø T et al. (2008) The GCKR rs780094 polymorphism is associated with elevated fasting serum triacylglycerol, reduced fasting and OGTT-related insulinaemia, and reduced risk of type 2 diabetes.

[^]
54.

van Vliet-Ostaptchouk JV et al. (2008) HHEX gene polymorphisms are associated with type 2 diabetes in the Dutch Breda cohort.

[^]
55.

Dentin R et al. (2008) Hepatic glucose sensing via the CREB coactivator CRTC2.

[^]
56.

Horikawa Y et al. (2008) Replication of genome-wide association studies of type 2 diabetes susceptibility in Japan.

[^]
57.

Unoki H et al. (2008) SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations.

[^]
58.

Yasuda K et al. (2008) Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus.

[^]
59.

Prokopenko I et al. (2008) Type 2 diabetes: new genes, new understanding.

[^]
60.

Meigs JB et al. (2008) Genotype score in addition to common risk factors for prediction of type 2 diabetes.

[^]
61.

Lyssenko V et al. (2008) Clinical risk factors, DNA variants, and the development of type 2 diabetes.

[^]
62.

Ding EL et al. (2009) Sex hormone-binding globulin and risk of type 2 diabetes in women and men.

[^]
63.

Perry JR et al. (2010) Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes.

[^]
64.

Kong A et al. (2009) Parental origin of sequence variants associated with complex diseases.

[^]
65.

Okamoto K et al. (2010) Identification of KCNJ15 as a susceptibility gene in Asian patients with type 2 diabetes mellitus.

[^]
66.

et al. (2010) Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.

[^]
67.

Onuma H et al. (2010) The GCKR rs780094 polymorphism is associated with susceptibility of type 2 diabetes, reduced fasting plasma glucose levels, increased triglycerides levels and lower HOMA-IR in Japanese population.

[^]
68.

Woods A et al. (2011) LKB1 is required for hepatic bile acid transport and canalicular membrane integrity in mice.

[^]
69.

et al. (2011) Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes.

[^]
70.

Bonnefond A et al. (2012) Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes.

[^]
71.

Yee SW et al. (2012) The role of ATM in response to metformin treatment and activation of AMPK.

[^]
72.

Woods A et al. (2012) The role of ATM in response to metformin treatment and activation of AMPK.

[^]
73.

Zhou K et al. (2012) The role of ATM in response to metformin treatment and activation of AMPK.

[^]
74.

et al. (2014) Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico.

[^]
75.

Bogardus C et al. (1989) Distribution of in vivo insulin action in Pima Indians as mixture of three normal distributions.

[^]
76.

Lee Y et al. (1994) Beta-cell lipotoxicity in the pathogenesis of non-insulin-dependent diabetes mellitus of obese rats: impairment in adipocyte-beta-cell relationships.

[^]
77.

Galli J et al. (1996) Genetic analysis of non-insulin dependent diabetes mellitus in the GK rat.

[^]
78.

Gauguier D et al. (1996) Chromosomal mapping of genetic loci associated with non-insulin dependent diabetes in the GK rat.

[^]
79.

Sreenan S et al. (1996) Prevention of hyperglycemia in the Zucker diabetic fatty rat by treatment with metformin or troglitazone.

[^]
80.

Lee Y et al. (1997) Increased lipogenic capacity of the islets of obese rats: a role in the pathogenesis of NIDDM.

[^]
81.

Brüning JC et al. (1997) Development of a novel polygenic model of NIDDM in mice heterozygous for IR and IRS-1 null alleles.

[^]
82.

Terauchi Y et al. (1997) Development of non-insulin-dependent diabetes mellitus in the double knockout mice with disruption of insulin receptor substrate-1 and beta cell glucokinase genes. Genetic reconstitution of diabetes as a polygenic disease.

[^]
83.

Shimabukuro M et al. (1997) Leptin- or troglitazone-induced lipopenia protects islets from interleukin 1beta cytotoxicity.

[^]
84.

Shimabukuro M et al. (1998) Fatty acid-induced beta cell apoptosis: a link between obesity and diabetes.

[^]
85.

Poulton J et al. (1998) A common mitochondrial DNA variant is associated with insulin resistance in adult life.

[^]
86.

Pratley RE et al. (1998) An autosomal genomic scan for loci linked to prediabetic phenotypes in Pima Indians.

[^]
87.

Fonseca VA et al. (1998) Troglitazone monotherapy improves glycemic control in patients with type 2 diabetes mellitus: a randomized, controlled study. The Troglitazone Study Group.

[^]
88.

Tuomi T et al. (1999) Clinical and genetic characteristics of type 2 diabetes with and without GAD antibodies.

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