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| A DoriaSummaryAffiliation: Harvard University Country: USA Publications
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Publications
Can existing drugs approved for other indications retard renal function decline in patients with type 1 diabetes and nephropathy?Alessandro Doria
Section on Genetics and Epidemiology, Joslin Diabetes Center, Boston, Massachusetts 02215, USA
Semin Nephrol 32:437-44. 2012....
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...
Interaction between poor glycemic control and 9p21 locus on risk of coronary artery disease in type 2 diabetesAlessandro Doria
Research Division, Joslin Diabetes Center, Department of Medicine, Harvard Medical School, Boston, MA 02215, USA
JAMA 300:2389-97. 2008..However, the magnitude of this effect in the population with diabetes has not been well characterized...
Genetics of diabetes complicationsAlessandro Doria
Section on Genetics and Epidemiology, Joslin Diabetes Center, One Joslin Place, Boston, MA 02215, USA
Curr Diab Rep 10:467-75. 2010..It is anticipated that the identification of these genes will provide novel insights on the etiology of diabetic complications, with crucial implications for the development of new drugs to prevent the adverse effects of diabetes...
Methods for the study of the genetic determinants of diabetes and its complicationsA Doria
Section on Genetics and Epidemiology, Research Division, Joslin Diabetes Center, Department of Medicine, Harvard Medical School, Boston, MA, USA
Przegl Lek 57:7-12. 2000..Several new diabetes loci and genes have already been identified through the strategies outlined above, and many more are expected to be found in the next few years with the completion of the Human Genome Project...
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....
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...
Evidence of a novel type 2 diabetes locus 50 cM centromeric to NIDDM2 on chromosome 12qA Bektas
Section on Genetics and Epidemiology, Research Division, Joslin Diabetes Center, Boston, Massachusetts 02215, USA
Diabetes 48:2246-51. 1999..Rather, they strongly suggest that a previously undetected type 2 diabetes locus exists 50 cM from NIDDM2 on 12q...
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...
Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitusM T Malecki
Research Division, Joslin Diabetes Center, Harvard Medical School, Boston, Massachusetts, USA
Nat Genet 23:323-8. 1999..Our findings suggest that deficient binding of NEUROD1 or binding of a transcriptionally inactive NEUROD1 polypeptide to target promoters in pancreatic islets leads to the development of type 2 diabetes in humans...
An association between NIDDM and a GAA trinucleotide repeat polymorphism in the X25/frataxin (Friedreich's ataxia) geneM Ristow
Klinik II und Poliklinik für Innere Medizin, Universitat zu Koln, Cologne, Germany
Diabetes 47:851-4. 1998..Further studies are needed to elucidate the possible role of frataxin in the pathogenesis of NIDDM...
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...
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...
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...
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...
High-normal serum uric acid increases risk of early progressive renal function loss in type 1 diabetes: results of a 6-year follow-upLinda H Ficociello
Research Division, Joslin Diabetes Center, Boston, Massachusetts, USA
Diabetes Care 33:1337-43. 2010..Here, we prospectively investigated whether baseline uric acid impacts the risk of early progressive renal function loss (early GFR loss) in these patients...
Genetic markers of increased susceptibility to diabetic nephropathyA Doria
Research Division, Joslin Diabetes Center, Harvard Medical School, Boston, Mass 02215, USA
Horm Res 50:6-11. 1998..Thus, no genetic marker of increased susceptibility to diabetic nephropathy having clinical utility is currently available. New insights are expected from the systematic scanning of the genome for linkage with diabetic nephropathy...
Hepatocyte nuclear factor-4gamma: cDNA sequence, gene organization, and mutation screening in early-onset autosomal-dominant type 2 diabetesN Plengvidhya
Section on Genetics and Epidemiology, Research Division, Joslin Diabetes Center, Boston, Massachusetts 02215, USA
Diabetes 48:2099-102. 1999..We conclude that genetic variability in the HNF-4gamma gene is unlikely to play a major role in the etiology of early-onset autosomal-dominant type 2 diabetes...
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...
Genome-wide association scan for diabetic nephropathy susceptibility genes in type 1 diabetesMarcus G Pezzolesi
Research Division, Joslin Diabetes Center, and Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA
Diabetes 58:1403-10. 2009..To search for genes that contribute to diabetic nephropathy, a genome-wide association scan was implemented on the Genetics of Kidneys in Diabetes collection...
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...
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...
Phenotypic characteristics of early-onset autosomal-dominant type 2 diabetes unlinked to known maturity-onset diabetes of the young (MODY) genesA Doria
Section on Genetics, Joslin Diabetes Center, Boston, MA 02215, USA
Diabetes Care 22:253-61. 1999..To investigate whether there are forms of early-onset autosomal-dominant type 2 diabetes that are distinct from typical maturity-onset diabetes of the young (MODY) and to characterize their phenotypic characteristics...
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...
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...
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...
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...
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...
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...
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
Genetic deficiency and pharmacological stabilization of mast cells reduce diet-induced obesity and diabetes in miceJian Liu
Department of Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts, USA
Nat Med 15:940-5. 2009..Our results showing reduced obesity and diabetes in mice treated with clinically available mast cell-stabilizing agents suggest the potential of developing new therapies for these common human metabolic disorders...
Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunctionMaciej Borowiec
Research Division, Department of Medicine, Joslin Diabetes Center, Harvard Medical School, Boston, MA 02215, USA
Proc Natl Acad Sci U S A 106:14460-5. 2009..1. These actions are greatly attenuated by the Ala71Thr mutation. These findings point to BLK as a previously unrecognized modulator of beta-cell function, the deficit of which may lead to the development of diabetes...
Residual insulin production and pancreatic ß-cell turnover after 50 years of diabetes: Joslin Medalist StudyHillary A Keenan
Research Division, Joslin Diabetes Center, Boston, Massachusetts, USA
Diabetes 59:2846-53. 2010..To evaluate the extent of pancreatic β-cell function in a large number of insulin-dependent diabetic patients with a disease duration of 50 years or longer (Medalists)...
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...
Mutation screening of the neurogenin-3 gene in autosomal dominant diabetesS H Kim
Section on Genetics and Epidemiology, Research Division, Joslin Diabetes Center, Department of Medicine, Harvard Medical School, Boston, Massachusetts 02215, USA
J Clin Endocrinol Metab 86:2320-2. 2001..Rather, they might contribute to common type 2 diabetes, although this finding must be replicated in other populations...
Trinucleotide repeats at the rad locus. Allele distributions in NIDDM and mapping to a 3-cM region on chromosome 16qA Doria
Research Division, Joslin Diabetes Center, Boston, MA 02215
Diabetes 44:243-7. 1995..84 at recombination fractions of 0.024, 0.001, and 0.03, respectively). The high degree of heterozygosity of these markers will allow large-scale family studies to be performed to test the presence of linkage between rad and NIDDM...
Examination of PPP1R3B as a candidate gene for the type 2 diabetes and MODY loci on chromosome 8p23J S Dunn
Section on Genetics and Epidemiology, Joslin Diabetes Center, Boston, Massachusetts 02215, USA
Ann Hum Genet 70:587-93. 2006..However, a role cannot be excluded in other populations such as the Japanese, among whom linkage to diabetes is also observed at 8p23 and a non-synonymous mutation has been detected in the PPP1R3B gene...
Type 2 diabetes locus on 12q15. Further mapping and mutation screening of two candidate genesA Bektas
Research Division, Joslin Diabetes Center, Harvard Medical School, Boston, Massachusetts 02215, USA
Diabetes 50:204-8. 2001..This locus, however, does not appear to correspond to the PTPRR or CPM, although a contribution of mutations in regulatory regions cannot be excluded at this time...
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....
Identification and importance of brown adipose tissue in adult humansAaron M Cypess
Research Division, Joslin Diabetes Center, Boston, MA 02215, USA
N Engl J Med 360:1509-17. 2009....
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...
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....
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)...
Association of hGrb10 genetic variations with type 2 diabetes in Caucasian subjectsRosa Di Paola
Diabetes Care 29:1181-3. 2006
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 +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...
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...
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
Elevated C-reactive protein levels do not correspond to autoimmunity in type 1 diabetesAndras Treszl
Diabetes Care 27:2769-70. 2004
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...
Genome-wide associations and metabolic disease: the big revolutionAlessandro Doria
Curr Opin Clin Nutr Metab Care 11:363-5. 2008
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...
Research profile. Genetics and heart disease. Terri Kordella
Diabetes Forecast 55:71, 73-4,. 2002
Research Grants
- Variability in Adipokine Genes and AtherosclerosisAlessandro Doria; Fiscal Year: 2007..abstract_text> ..
- Search for Insulin Resistance Genes in Early Onest T2DMAlessandro Doria; Fiscal Year: 2006....
- SEARCH FOR INSULIN RESISTANCE GENES IN EARLY ONSET NIDDMAlessandro Doria; Fiscal Year: 2002....
- Genetics of Coronary Artery Disease in Type 2 DiabetesAlessandro Doria; Fiscal Year: 2010....
