Affiliation: San Giovanni Rotondo
- The +276 G/T single nucleotide polymorphism of the adiponectin gene is associated with coronary artery disease in type 2 diabetic patientsSimonetta Bacci
Cardiovascular and Endocrine Department of the Scientific Institute, Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
Diabetes Care 27:2015-20. 2004..We investigated whether these genetic markers are determinants of coronary artery disease (CAD) in type 2 diabetic patients...
- The IRS1 G972R polymorphism and glomerular filtration rate in patients with type 2 diabetes of European ancestrySalvatore De Cosmo
IRCCS Casa Sollievo della Sofferenza, Clinical Unit of Endocrinology, San Giovanni Rotondo, Italy
Nephrol Dial Transplant 28:3031-4. 2013..In Mexican Americans, the IRS1 G972R polymorphism (rs1801278) has been associated to such a marked reduction in glomerular filtration rate (GFR) (i.e. β = -8.3 mL/min/1.73 m(2)) to be considered a major determinant of kidney function...
- Association of the Q121 variant of ENPP1 gene with decreased kidney function among patients with type 2 diabetesSalvatore De Cosmo
Unit of Endocrinology, Scientific Institute Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
Am J Kidney Dis 53:273-80. 2009..This study investigated whether the ENPP1 Q121 variant modulates the risk of decreased glomerular filtration rate (GFR) in patients with T2D...
- Joint effect of insulin signaling genes on insulin secretion and glucose homeostasisSabrina Prudente
Casa Sollievo della Sofferenza Mendel Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico, Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy
J Clin Endocrinol Metab 98:E1143-7. 2013..Reduced insulin signaling in insulin secreting β-cells causes defective insulin secretion and hyperglycemia in mice...
- The 9p21 coronary artery disease locus and kidney dysfunction in patients with Type 2 diabetes mellitusSalvatore De Cosmo
Department of Medical Sciences, IRCSS Casa Sollievo della Sofferenza Clinical Unit of Endocrinology, San Giovanni Rotondo, Italy
Nephrol Dial Transplant 27:4411-3. 2012....
- Serum resistin, cardiovascular disease and all-cause mortality in patients with type 2 diabetesClaudia Menzaghi
Research Unit of Diabetes and Endocrine Diseases, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
PLoS ONE 8:e64729. 2013..We studied the role of serum resistin on coronary artery disease, major cardiovascular events and all-cause mortality in type 2 diabetes...
- The SH2B1 obesity locus is associated with myocardial infarction in diabetic patients and with NO synthase activity in endothelial cellsSabrina Prudente
IRCSS Casa Sollievo della Sofferenza Mendel Laboratory, San Giovanni Rotondo, Italy
Atherosclerosis 219:667-72. 2011..We investigated whether SNP rs4788102, which captures the entire SH2B1 variability, is associated with coronary artery disease (CAD) and/or myocardial infarction (MI) in patients with type 2 diabetes mellitus (T2DM)...
- The role of HSP70 on ENPP1 expression and insulin-receptor activationAntonella Marucci
Research Unit of Diabetes and Endocrine Diseases, Scientific Institute, Poliambulatorio Giovanni Paolo II, Viale Padre Pio, 71013, San Giovanni Rotondo, Italy
J Mol Med (Berl) 87:139-44. 2009..Taken together these data suggest that HSP70, by affecting ENPP1 expression, may be a novel mediator of altered insulin signaling...
- Genetic influences of adiponectin on insulin resistance, type 2 diabetes, and cardiovascular diseaseClaudia Menzaghi
Research Unit of Diabetology and Endocrinology, Scientific Institute Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
Diabetes 56:1198-209. 2007....
- The ENPP1 Q121 variant predicts major cardiovascular events in high-risk individuals: evidence for interaction with obesity in diabetic patientsSimonetta Bacci
Unit of Endocrinology, IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo, Italy
Diabetes 60:1000-7. 2011..Insulin resistance (IR) and cardiovascular disease may share a common genetic background. We investigated the role of IR-associated ENPP1 K121Q polymorphism (rs1044498) on cardiovascular disease in high-risk individuals...
- Heritability of serum resistin and its genetic correlation with insulin resistance-related features in nondiabetic CaucasiansClaudia Menzaghi
Research Unit of Diabetology and Endocrinology, Scientific Institute Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo FG Italy
J Clin Endocrinol Metab 91:2792-5. 2006..Serum levels of resistin are believed to modulate insulin resistance in humans...
- The K121Q polymorphism of the ENPP1/PC-1 gene is associated with insulin resistance/atherogenic phenotypes, including earlier onset of type 2 diabetes and myocardial infarctionSimonetta Bacci
Unit of Endocrinology, CSS Scientific Institute, San Giovanni Rotondo, Italy
Diabetes 54:3021-5. 2005..In conclusion, the ENPP1/PC-1 121Q variant is associated with a progressive deterioration of the IR-atherogenic phenotype; among diabetic individuals, it is also associated with earlier onset of type 2 diabetes and MI...
- A common haplotype at the CD36 locus is associated with high free fatty acid levels and increased cardiovascular risk in CaucasiansXiaowei Ma
Research Division, Joslin Diabetes Center, Harvard Medical School, Boston, MA, USA
Hum Mol Genet 13:2197-205. 2004..In conclusion, this comprehensive study of CD36 variability indicates that the common polymorphisms at this locus modulate lipid metabolism and cardiovascular risk in Caucasians...
- Genetic variability in insulin action inhibitor Ikkbeta (IKBKB) does not play a major role in the development of type 2 diabetesClaudia Menzaghi
Research Division, Joslin Diabetes Center, and Department of Medicine, Harvard Medical School, Boston, Massachusetts 02215, USA
J Clin Endocrinol Metab 87:1894-7. 2002..We conclude that sequence differences in the IKBKB gene do not play a major role in either early-onset, autosomal dominant type 2 diabetes, or common forms with a later-onset...
- The ENPP1 K121Q polymorphism is associated with type 2 diabetes in European populations: evidence from an updated meta-analysis in 42,042 subjectsJarred B McAteer
Diabetes Unit Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
Diabetes 57:1125-30. 2008..We therefore conducted a new meta-analysis that includes novel unpublished data from the ENPP1 Consortium and recent negative findings from large association studies to address the contribution of K121Q to type 2 diabetes...
- A polymorphism at the IL6ST (gp130) locus is associated with traits of the metabolic syndromeLucia Gottardo
Research Division, Joslin Diabetes Center, Harvard Medical School, Boston, Massachusetts, USA
Obesity (Silver Spring) 16:205-10. 2008..6, 95% confidence interval 0.4-0.8, P = 0.005). These findings point to IL6ST variants as possible determinants of impaired glucose metabolism and other abnormalities of MS...
- Genetic variation at the adiponectin locus and risk of type 2 diabetes in womenFrank B Hu
Department of Nutrition, Harvard School of Public Health, Boston, Massachusetts 02115, USA
Diabetes 53:209-13. 2004..03-2.08, P = 0.03). These data suggest a potential interaction between the adiponectin genotype and PPAR gamma genotype or obesity, but these analyses should be considered exploratory and require further investigation in larger studies...
- Genetic variants at the resistin locus and risk of type 2 diabetes in CaucasiansXiaowei Ma
Section on Genetics and Epidemiology, Research Division, Joslin Diabetes Center, Boston, Massachusetts 02215, USA
J Clin Endocrinol Metab 87:4407-10. 2002..However, our data suggest a synergistic effect of sequence differences at the resistin locus and obesity on risk of type 2 diabetes. Further studies are needed to confirm this finding in other populations...
- A haplotype at the adiponectin locus is associated with obesity and other features of the insulin resistance syndromeClaudia Menzaghi
Research Division, Section on Genetics and Epidemiology, Joslin Diabetes Center, One Joslin Place, Boston, MA 02215, USA
Diabetes 51:2306-12. 2002....
- Variations in adiponectin receptor genes and susceptibility to type 2 diabetes in women: a tagging-single nucleotide polymorphism haplotype analysisLu Qi
Department of Nutrition, Harvard School of Public Health, Boston, MA 02115, USA
Diabetes 56:1586-91. 2007..In conclusion, our data indicate significant associations between ADIPOR1 haplotypes and diabetes risk but do not support a relation between ADIPOR2 variability and the disease...
- The +276 polymorphism of the APM1 gene, plasma adiponectin concentration, and cardiovascular risk in diabetic menLu Qi
Department of Nutrition, Harvard School of Public Health, 665 Huntington Ave, Boston, MA 02115, USA
Diabetes 54:1607-10. 2005..0019). In conclusion, our study showed significant associations between APM1 G276T and decreased CVD risk and increased plasma adiponectin levels in diabetic men...
- Tag polymorphisms at the A20 (TNFAIP3) locus are associated with lower gene expression and increased risk of coronary artery disease in type 2 diabetesWatip Boonyasrisawat
Section on Genetics and Epidemiology, Joslin Diabetes Center, One Joslin Place, Boston, MA 02215, USA
Diabetes 56:499-505. 2007..04 and 0.028, respectively). These findings point to variability in the A20/TNFAIP3 gene as a modulator of CAD risk in type 2 diabetes. This effect is mediated by allelic differences in A20 expression...
- Association of hGrb10 genetic variations with type 2 diabetes in Caucasian subjectsRosa Di Paola
Diabetes Care 29:1181-3. 2006
- A visfatin promoter polymorphism is associated with low-grade inflammation and type 2 diabetesYuan Yuan Zhang
Research Division, Joslin Diabetes Center, Boston, Massachusetts 02215, USA
Obesity (Silver Spring) 14:2119-26. 2006..Our findings suggest that the visfatin/PBEF gene may play a role in determining T2D susceptibility, possibly by modulating chronic, low-grade inflammatory responses...
- Adiponectin genetic variability, plasma adiponectin, and cardiovascular risk in patients with type 2 diabetesLu Qi
Department of Nutrition, Harvard School of Public Health, 665 Huntington Avenue, Boston, MA 02115, USA
Diabetes 55:1512-6. 2006..In conclusion, ADIPOQ promoter polymorphism -11365C-->G was associated with plasma adiponectin levels, whereas polymorphisms -4034A-->C and +276G-->T were associated with CVD risk in diabetic patients...
- Identification of a locus for maturity-onset diabetes of the young on chromosome 8p23Sung Hoon Kim
Research Division, Section on Genetics and Epidemiology, Joslin Diabetes Center, One Joslin Place, Boston, MA 02215, USA
Diabetes 53:1375-84. 2004..Another novel MODY locus may be present on 2q37. Cloning these new MODY genes may offer insights to disease pathways that are relevant to the cause of common type 2 diabetes...
- Genetic variability at the leptin receptor (LEPR) locus is a determinant of plasma fibrinogen and C-reactive protein levelsYuan Yuan Zhang
Research Division, Joslin Diabetes Center, Boston, MA 02215, USA
Atherosclerosis 191:121-7. 2007..To investigate this hypothesis, we examined the effect of genetic variability at the leptin receptor (LEPR) locus on the plasma levels of fibrinogen and CRP--two markers of inflammation and susceptibility to atherosclerosis...
- Genetic modifiers of the age at diagnosis of diabetes (MODY3) in carriers of hepatocyte nuclear factor-1alpha mutations map to chromosomes 5p15, 9q22, and 14q24Sung Hoon Kim
Research Division, Joslin Diabetes Center, Boston, Massachusetts, USA
Diabetes 52:2182-6. 2003..Identification of these genes will offer new insights into the pathophysiology of MODY that may, in turn, increase our understanding of the cellular events underlying more common forms of diabetes...
- Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effectTomasz Klupa
Research Division, Joslin Diabetes Center, Harvard Medical School, Boston, Massachusetts 02215, USA
Diabetes Care 25:2292-301. 2002..To determine the distribution of the age at onset of diabetes (maturity-onset diabetes of the young-3 [MODY3]) and to identify determinants of the onset of diabetes in carriers of HNF-1alpha mutations...
- Elevated release of sCD40L from platelets of diabetic patients by thrombin, glucose and advanced glycation end productsNerea Varo
Donald W Reynolds Cardiovascular Clinical Research Center, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
Diab Vasc Dis Res 2:81-7. 2005....
- Research profile. Genetics and heart disease. Terri Kordella
Diabetes Forecast 55:71, 73-4,. 2002
- The emerging genetic architecture of type 2 diabetesAlessandro Doria
Joslin Diabetes Center, One Joslin Place, Harvard Medical School, Boston, MA 02215, USA
Cell Metab 8:186-200. 2008....
- Genome-wide associations and metabolic disease: the big revolutionAlessandro Doria
Curr Opin Clin Nutr Metab Care 11:363-5. 2008
- Variants in the CD36 gene associate with the metabolic syndrome and high-density lipoprotein cholesterolLatisha Love-Gregory
Department of Medicine, Center for Human Nutrition, Division of Biostatistics, Washington University School of Medicine, St Louis, MO 63110, USA
Hum Mol Genet 17:1695-704. 2008..0059). Fifteen additional SNPs associated with HDL-C (P = 0.0028-0.044). We conclude that CD36 variants may impact MetS pathophysiology and HDL metabolism, both predictors of the risk of heart disease and type 2 diabetes...
- A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samplesPaola Sebastiani
Department of Biostatistics, Boston University School of Public Health, Boston 02118 MA, USA
BMC Genet 9:6. 2008..One of the challenges of the analysis of pooling-based genome wide association studies is to identify authentic associations among potentially thousands of false positive associations...
- Common haplotypes at the adiponectin receptor 1 (ADIPOR1) locus are associated with increased risk of coronary artery disease in type 2 diabetesTeresa Soccio
Research Division, Joslin Diabetes Center, Boston, MA, USA
Diabetes 55:2763-70. 2006..001-0.014). Our findings point to genetic variability at the ADIPOR1 locus as a strong determinant of CAD susceptibility in type 2 diabetes...
- Glutamine to arginine substitution at amino acid 84 of mammalian tribbles homolog TRIB3 and CKD in whites with type 2 diabetesSalvatore De Cosmo
Am J Kidney Dis 50:688-9. 2007
- PAX4 mutations in Thais with maturity onset diabetes of the youngNattachet Plengvidhya
Division of Endocrinology and Metabolism, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
J Clin Endocrinol Metab 92:2821-6. 2007..Six maturity onset diabetes of the young (MODY) genes have been discovered to date but account for a small proportion of MODY among Asians, suggesting the existence of other MODY genes in this racial group...
- Identification of a locus modulating serum C-reactive protein levels on chromosome 5p15Hillary A Keenan
Research Division, Joslin Diabetes Center, Section on Genetics and Epidemiology, Joslin Diabetes Center, One Joslin Place, Boston, MA 02215, USA
Atherosclerosis 196:863-70. 2008..To identify genes involved in this modulation, we performed a 10cM genome screen for linkage with plasma C-reactive protein in 38 extended families including 317 non-diabetic and 177 type 2 diabetic family members (2547 relative pairs)...
- Clinical factors associated with resistance to microvascular complications in diabetic patients of extreme disease duration: the 50-year medalist studyHillary A Keenan
Joslin Diabetes Center, One Joslin Place, Boston, MA 02215, USA
Diabetes Care 30:1995-7. 2007