JOSE CARLOS FLOREZ

Summary

Affiliation: Massachusetts General Hospital
Country: USA

Publications

  1. ncbi request reprint The inherited basis of diabetes mellitus: implications for the genetic analysis of complex traits
    Jose C Florez
    Diabetes Unit and Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    Annu Rev Genomics Hum Genet 4:257-91. 2003
  2. ncbi request reprint A piece of my mind. Knowledge is power
    Jose C Florez
    JAMA 298:1489-90. 2007
  3. doi request reprint Newly identified loci highlight beta cell dysfunction as a key cause of type 2 diabetes: where are the insulin resistance genes?
    J C Florez
    Diabetes Unit and Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
    Diabetologia 51:1100-10. 2008
  4. pmc Genetic susceptibility to type 2 diabetes and implications for therapy
    Jose C Florez
    Center for Human Genetic Research and Diabetes Research Center Diabetes Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Diabetes Sci Technol 3:690-6. 2009
  5. pmc Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways
    Robert A Scott
    Medical Research Council Epidemiology Unit, Institute of Metabolic Science, Addenbrooke s Hospital, Cambridge, UK
    Nat Genet 44:991-1005. 2012
  6. pmc Association testing of previously reported variants in a large case-control meta-analysis of diabetic nephropathy
    Winfred W Williams
    Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA
    Diabetes 61:2187-94. 2012
  7. pmc Impact of common variation in bone-related genes on type 2 diabetes and related traits
    Liana K Billings
    Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA
    Diabetes 61:2176-86. 2012
  8. pmc Updated genetic score based on 34 confirmed type 2 diabetes Loci is associated with diabetes incidence and regression to normoglycemia in the diabetes prevention program
    Marie France Hivert
    Division of Endocrinology, Department of Medicine, Universite de Sherbrooke, Sherbrooke, Quebec, Canada
    Diabetes 60:1340-8. 2011
  9. pmc Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes
    Rona J Strawbridge
    Atherosclerosis Research Unit, Department of Medicine Solna, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden
    Diabetes 60:2624-34. 2011
  10. pmc Race-ethnic differences in the association of genetic loci with HbA1c levels and mortality in U.S. adults: the third National Health and Nutrition Examination Survey (NHANES III)
    Jonna L Grimsby
    General Medicine Division, Massachusetts General Hospital, Boston, MA, USA
    BMC Med Genet 13:30. 2012

Detail Information

Publications47

  1. ncbi request reprint The inherited basis of diabetes mellitus: implications for the genetic analysis of complex traits
    Jose C Florez
    Diabetes Unit and Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    Annu Rev Genomics Hum Genet 4:257-91. 2003
    ..We use the lessons learned from this extensive body of evidence to illustrate general implications for the genetic analysis of complex traits...
  2. ncbi request reprint A piece of my mind. Knowledge is power
    Jose C Florez
    JAMA 298:1489-90. 2007
  3. doi request reprint Newly identified loci highlight beta cell dysfunction as a key cause of type 2 diabetes: where are the insulin resistance genes?
    J C Florez
    Diabetes Unit and Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
    Diabetologia 51:1100-10. 2008
    ..Finally, a strategy for the analogous discovery of insulin resistance genes is proposed...
  4. pmc Genetic susceptibility to type 2 diabetes and implications for therapy
    Jose C Florez
    Center for Human Genetic Research and Diabetes Research Center Diabetes Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Diabetes Sci Technol 3:690-6. 2009
    ..Similarly, whether genetic information will help guide therapeutic decisions must be tested in adequately designed and rigorously conducted clinical trials...
  5. pmc Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways
    Robert A Scott
    Medical Research Council Epidemiology Unit, Institute of Metabolic Science, Addenbrooke s Hospital, Cambridge, UK
    Nat Genet 44:991-1005. 2012
    ..Functional analysis of these newly discovered loci will further improve our understanding of glycemic control...
  6. pmc Association testing of previously reported variants in a large case-control meta-analysis of diabetic nephropathy
    Winfred W Williams
    Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA
    Diabetes 61:2187-94. 2012
    ..In conclusion, we were unable to replicate most of the previously reported genetic associations for DN, and significance for the EPO promoter association was attenuated...
  7. pmc Impact of common variation in bone-related genes on type 2 diabetes and related traits
    Liana K Billings
    Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA
    Diabetes 61:2176-86. 2012
    ..These findings further underscore the link between skeletal and glucose metabolism and highlight a locus to direct future investigations...
  8. pmc Updated genetic score based on 34 confirmed type 2 diabetes Loci is associated with diabetes incidence and regression to normoglycemia in the diabetes prevention program
    Marie France Hivert
    Division of Endocrinology, Department of Medicine, Universite de Sherbrooke, Sherbrooke, Quebec, Canada
    Diabetes 60:1340-8. 2011
    ..We tested if a GRS based on an updated list of 34 type 2 diabetes-associated loci predicted progression to diabetes or regression toward normal glucose regulation (NGR) in the Diabetes Prevention Program (DPP)...
  9. pmc Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes
    Rona J Strawbridge
    Atherosclerosis Research Unit, Department of Medicine Solna, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden
    Diabetes 60:2624-34. 2011
    ..Studies of the insulin processing pathway could provide new insights about T2D pathophysiology...
  10. pmc Race-ethnic differences in the association of genetic loci with HbA1c levels and mortality in U.S. adults: the third National Health and Nutrition Examination Survey (NHANES III)
    Jonna L Grimsby
    General Medicine Division, Massachusetts General Hospital, Boston, MA, USA
    BMC Med Genet 13:30. 2012
    ....
  11. pmc Effects of genetic variants previously associated with fasting glucose and insulin in the Diabetes Prevention Program
    Jose C Florez
    Center for Human Genetic Research and Diabetes Research Center, Diabetes Unit, Massachusetts General Hospital, Boston, Massachusetts, United States of America
    PLoS ONE 7:e44424. 2012
    ..These variants do not have a detectable impact on diabetes incidence or response to metformin or lifestyle modification in the Diabetes Prevention Program...
  12. pmc The C allele of ATM rs11212617 does not associate with metformin response in the Diabetes Prevention Program
    Jose C Florez
    Massachusetts General Hospital, Boston, MA, USA
    Diabetes Care 35:1864-7. 2012
    ..We tested whether this variant modified the effect of metformin in the Diabetes Prevention Program (DPP), in which metformin reduced diabetes incidence by 31% in volunteers with impaired glucose tolerance...
  13. pmc Pharmacogenetics in type 2 diabetes: potential implications for clinical practice
    Chunmei Huang
    Center for Human Genetic Research, Massachusetts General Hospital, Simches Research Building, Boston, MA 02114, USA
    Genome Med 3:76. 2011
    ..Here, we offer a contemporary overview of the field in its current state, identify potential obstacles, and highlight future directions...
  14. pmc Genome-wide association with diabetes-related traits in the Framingham Heart Study
    James B Meigs
    General Medicine Division, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA
    BMC Med Genet 8:S16. 2007
    ..Susceptibility to type 2 diabetes may be conferred by genetic variants having modest effects on risk. Genome-wide fixed marker arrays offer a novel approach to detect these variants...
  15. pmc Strong association of socioeconomic status with genetic ancestry in Latinos: implications for admixture studies of type 2 diabetes
    J C Florez
    Department of Medicine, Harvard Medical School, Boston, MA, USA
    Diabetologia 52:1528-36. 2009
    ....
  16. ncbi request reprint The new type 2 diabetes gene TCF7L2
    Jose C Florez
    Diabetes Unit and Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
    Curr Opin Clin Nutr Metab Care 10:391-6. 2007
    ..Common variants in the gene that encodes the transcription factor 7-like 2 (TCF7L2) have been strongly associated with type 2 diabetes. This highly reproducible association may uncover novel mechanisms of glycemic pathophysiology...
  17. pmc Clinical review: the genetics of type 2 diabetes: a realistic appraisal in 2008
    Jose C Florez
    Simches Research Building CPZN 5 250, 185 Cambridge Street, Diabetes Unit Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 93:4633-42. 2008
    ..Over the last few months, genome-wide association studies have contributed significantly to our understanding of the genetic architecture of type 2 diabetes. If and how this information will impact clinical practice is not yet clear...
  18. ncbi request reprint The Krüppel-like factor 11 (KLF11) Q62R polymorphism is not associated with type 2 diabetes in 8,676 people
    Jose C Florez
    Simches Research Building, CPZN 6820, Diabetes Unit Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
    Diabetes 55:3620-4. 2006
    ..We conclude that the KLF11 A347S and T220M mutations do not contribute to increased risk of diabetes in European-derived populations and that the Q62R polymorphism has, at best, a minor effect on diabetes risk...
  19. pmc Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program
    J C Florez
    Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA
    Diabetologia 51:451-7. 2008
    ..We therefore examined the effects of these variants on diabetes incidence and response to interventions in the Diabetes Prevention Program (DPP), in which a lifestyle intervention or metformin treatment was compared with placebo...
  20. ncbi request reprint Association testing of common variants in the insulin receptor substrate-1 gene (IRS1) with type 2 diabetes
    J C Florez
    Simches Research Building CPZN 6820, Diabetes Unit Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
    Diabetologia 50:1209-17. 2007
    ..However, other nearby variants might account for the putative association signal...
  21. pmc Effects of the type 2 diabetes-associated PPARG P12A polymorphism on progression to diabetes and response to troglitazone
    Jose C Florez
    Center for Human Genetic Research and Department of Medicine, Massachusetts General Hospital, and Harvard Medical School, Boston 02114, USA
    J Clin Endocrinol Metab 92:1502-9. 2007
    ..The common P12A polymorphism in PPARG (a target for thiazolidinedione medications) has been consistently associated with type 2 diabetes...
  22. ncbi request reprint High-density haplotype structure and association testing of the insulin-degrading enzyme (IDE) gene with type 2 diabetes in 4,206 people
    Jose C Florez
    Diabetes Unit, Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA
    Diabetes 55:128-35. 2006
    ..Nominally significant differences in quantitative traits are consistent with statistical noise. We conclude that common genetic variation at IDE is unlikely to confer clinically significant risk of type 2 diabetes in Caucasians...
  23. pmc Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program
    Allan F Moore
    Center for Human Genetic Research, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA
    Diabetes 57:2503-10. 2008
    ....
  24. pmc Haplotype structure of the ENPP1 Gene and Nominal Association of the K121Q missense single nucleotide polymorphism with glycemic traits in the Framingham Heart Study
    Elliot S Stolerman
    Center for Human Genetic Research and Diabetes Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA
    Diabetes 57:1971-7. 2008
    ..We set out to confirm the association of ENPP1 K121Q with hyperglycemia, expand this association to insulin resistance traits, and determine whether the association stems from K121Q or another variant in linkage disequilibrium with it...
  25. pmc The association of ENPP1 K121Q with diabetes incidence is abolished by lifestyle modification in the diabetes prevention program
    Allan F Moore
    Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114 2622, USA
    J Clin Endocrinol Metab 94:449-55. 2009
    ..DESIGN, SETTING, PARTICIPANTS, AND OUTCOME: We genotyped ENPP1 K121Q in 3548 DPP participants and performed Cox regression analyses using genotype, intervention, and interactions as predictors of diabetes incidence...
  26. pmc The genetics of type 2 diabetes: what have we learned from GWAS?
    Liana K Billings
    Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA
    Ann N Y Acad Sci 1212:59-77. 2010
    ..We can apply these lessons to future investigation so as to improve our understanding of the genetic basis of type 2 diabetes...
  27. pmc Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
    Benjamin F Voight
    Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA
    Nat Genet 42:579-89. 2010
    ..We also show that a high proportion of T2D susceptibility loci harbor independent association signals influencing apparently unrelated complex traits...
  28. ncbi request reprint A 100K genome-wide association scan for diabetes and related traits in the Framingham Heart Study: replication and integration with other genome-wide datasets
    Jose C Florez
    Center for Human Genetic Research, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA
    Diabetes 56:3063-74. 2007
    ..To use genome-wide fixed marker arrays and improved analytical tools to detect genetic associations with type 2 diabetes in a carefully phenotyped human sample...
  29. ncbi request reprint Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity
    Helen N Lyon
    Division of Genetics, Children s Hospital Boston, Enders 561, 300 Longwood Ave, Boston, MA 02115, USA
    Diabetes 55:3180-4. 2006
    ..6 [0.42-0.88], P = 0.007). However, these findings are not supported by other studies. We did not observe a reproducible association between these three ENPP1 variants and BMI or type 2 diabetes...
  30. ncbi request reprint Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals
    Richa Saxena
    Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, MA, USA
    Diabetes 55:2890-5. 2006
    ..003) but not with increased insulin resistance. These results suggest that TCF7L2 variants may act through insulin secretion to increase the risk of type 2 diabetes...
  31. ncbi request reprint Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with type 2 diabetes
    Jose C Florez
    Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA
    Diabetes 53:3313-8. 2004
    ..15 [1.05-1.26], P = 0.001). Despite genotyping 9,000 people and >95% power to reproduce the estimated OR from the recent meta-analysis, we were unable to replicate the association of the IRS-1 G972R polymorphism with type 2 diabetes...
  32. ncbi request reprint Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region
    Jose C Florez
    Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA
    Diabetes 53:1360-8. 2004
    ....
  33. pmc Common genetic determinants of vitamin D insufficiency: a genome-wide association study
    Thomas J Wang
    Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA
    Lancet 376:180-8. 2010
    ..We aimed to identify common genetic variants affecting vitamin D concentrations and risk of insufficiency...
  34. pmc Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes
    Lu Qi
    Department of Nutrition, Harvard School of Public Health, and Brigham and Women s Hospital, Boston, MA, USA
    Hum Mol Genet 19:2706-15. 2010
    ..05). These data suggest that the 2q24 locus may influence the T2D risk by affecting glucose metabolism and insulin resistance...
  35. ncbi request reprint The ENPP1 K121Q polymorphism is associated with type 2 diabetes in European populations: evidence from an updated meta-analysis in 42,042 subjects
    Jarred 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...
  36. pmc Ordered stratification to reduce heterogeneity in linkage to diabetes-related quantitative traits
    James B Meigs
    Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA
    Obesity (Silver Spring) 16:2314-22. 2008
    ..Such interactions might also influence trait-locus associations and may be useful to consider in diabetes genome-wide association studies...
  37. pmc Common variants in the adiponectin gene (ADIPOQ) associated with plasma adiponectin levels, type 2 diabetes, and diabetes-related quantitative traits: the Framingham Offspring Study
    Marie France Hivert
    General Medicine Division, Massachusetts General Hospital, Boston, MA, USA
    Diabetes 57:3353-9. 2008
    ..Using comprehensive linkage disequilibrium mapping, we genotyped single nucleotide polymorphisms (SNPs) in ADIPOQ to evaluate the association of common variants with adiponectin levels and risk of diabetes...
  38. pmc Genotype score in addition to common risk factors for prediction of type 2 diabetes
    James B Meigs
    General Medicine Division, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA
    N Engl J Med 359:2208-19. 2008
    ..We tested the hypothesis that knowledge of these loci allows better prediction of risk than knowledge of common phenotypic risk factors alone...
  39. pmc Association of variants in RETN with plasma resistin levels and diabetes-related traits in the Framingham Offspring Study
    Marie France Hivert
    General Medicine Division, Massachusetts General Hospital, Boston, Massachusetts, USA
    Diabetes 58:750-6. 2009
    ..Using comprehensive linkage disequilibrium mapping, we genotyped tag single nucleotide polymorphisms (SNPs) in RETN and tested associations with plasma resistin levels, risk of diabetes, and glycemic traits...
  40. ncbi request reprint Genetic susceptibility to type 2 diabetes and implications for antidiabetic therapy
    Allan F Moore
    Diabetes Unit Department of Medicine, Massachusetts General Hospital, Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA
    Annu Rev Med 59:95-111. 2008
    ..An improved understanding of genetic mechanisms should allow us to test whether behavioral or pharmacologic therapies can be tailored and thus the tremendous disease burden inflicted by type 2 diabetes alleviated...
  41. ncbi request reprint Haplotype structures and large-scale association testing of the 5' AMP-activated protein kinase genes PRKAA2, PRKAB1, and PRKAB2 [corrected] with type 2 diabetes
    Maria W Sun
    Dept of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA
    Diabetes 55:849-55. 2006
    ..Several nominal associations of variants in PRKAA2 and PRKAB1 with BMI appear to be consistent with statistical noise...
  42. doi request reprint Prenatal diagnosis of Down syndrome: how best to deliver the news
    Brian G Skotko
    Division of Genetics, Department of Medicine, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Am J Med Genet A 149:2361-7. 2009
    ..We conclude that physicians can deliver prenatal diagnoses of DS in a sensitive manner that can be appreciated by expectant parents...
  43. pmc Clinical translation of genetic predictors for type 2 diabetes
    Amit R Majithia
    Diabetes Research Center Diabetes Unit, Massachusetts General Hospital, Boston, Boston, MA 02114, USA
    Curr Opin Endocrinol Diabetes Obes 16:100-6. 2009
    ..To highlight recent type 2 diabetes (T2D)-associated genetic discoveries and their potential for clinical application...
  44. doi request reprint Genomics of type 2 diabetes mellitus: implications for the clinician
    Elliot S Stolerman
    Diabetes Unit Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA
    Nat Rev Endocrinol 5:429-36. 2009
    ..Finally, the current list of genetic loci that are related to T2DM does not seem to offer greater predictive value in determining diabetes risk than do commonly used phenotypic risk factors and family history...
  45. doi request reprint Postnatal diagnosis of Down syndrome: synthesis of the evidence on how best to deliver the news
    Brian G Skotko
    Division of Genetics, Department of Medicine, Children s Hospital Boston, 300 Longwood Ave, Boston, MA 02115, USA
    Pediatrics 124:e751-8. 2009
    ..DS remains the most common chromosomal condition, occurring in 1 of every 733 births, with the majority of children still diagnosed postnatally...
  46. pmc Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways
    Nicole Soranzo
    Human Genetics, Wellcome Trust Sanger Institute, Hinxton, U K
    Diabetes 59:3229-39. 2010
    ..We aimed to identify such genetic factors and investigate the extent to which they influence diabetes classification based on HbA₁(c) levels...

Research Grants6

  1. Genetic variation in drug targets for type 2 diabetes
    Jose Florez; Fiscal Year: 2007
    ..This proposal should serve as the foundation for a large pharmacogenomics trial designed to evaluate the feasibility of genetically-tailored therapy in T2DM. ..
  2. Pharmacogenetics of the acute response to sulfonylurea and metformin treatment in
    Jose Florez; Fiscal Year: 2007
    ..In addition, this pilot study will lay the groundwork for a long-term, outcomes-based pharmacogenetic clinical trial. ..
  3. Fine-mapping and Characterization of Metabolic Loci in the DPP Outcomes Study
    JOSE CARLOS FLOREZ; Fiscal Year: 2010
    ..In the DPP, we will test the association of select variants with baseline diabetes-related quantitative traits, incidence of metabolic outcomes, response to the lifestyle intervention, and the effects of metformin and troglitazone. ..
  4. Study to Understand the Genetics of the Acute Response to Metformin & Glipizide
    JOSE CARLOS FLOREZ; Fiscal Year: 2010
    ....