Stephen Rich

Summary

Affiliation: Wake Forest University School of Medicine
Country: USA

Publications

  1. ncbi request reprint Association of protein tyrosine phosphatase-N1 polymorphisms with coronary calcified plaque in the Diabetes Heart Study
    Kathryn P Burdon
    Department of Biochemistry, Wake Forest University School of Medicine, Medical Center Boulevard, Winston Salem, NC 27157, USA
    Diabetes 55:651-8. 2006
  2. pmc The Ischemic Stroke Genetics Study (ISGS) Protocol
    James F Meschia
    Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA
    BMC Neurol 3:4. 2003
  3. pmc Genetic analysis of the GLUT10 glucose transporter (SLC2A10) polymorphisms in Caucasian American type 2 diabetes
    Jennifer L Bento
    Department of Biochemistry, Wake Forest University School of Medicine, Winston Salem, North Carolina, 27157, USA
    BMC Med Genet 6:42. 2005
  4. pmc Age-stratified QTL genome scan analyses for anthropometric measures
    Stephanie R Beck
    Department of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, North Carolina, USA
    BMC Genet 4:S31. 2003
  5. pmc Age-stratified heritability estimation in the Framingham Heart Study families
    W Mark Brown
    Department of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, North Carolina, USA
    BMC Genet 4:S32. 2003
  6. ncbi request reprint Genetics of diabetes and its complications
    Stephen S Rich
    Department of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, NC, USA
    J Am Soc Nephrol 17:353-60. 2006
  7. ncbi request reprint The genetic basis of glucose homeostasis
    Stephen S Rich
    Department of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Curr Diabetes Rev 1:221-6. 2005
  8. ncbi request reprint Challenges and strategies for investigating the genetic complexity of common human diseases
    Stephen S Rich
    Department of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157, USA
    Diabetes 51:S288-94. 2002
  9. ncbi request reprint The Type 1 Diabetes Genetics Consortium
    Stephen S Rich
    Department of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Ann N Y Acad Sci 1079:1-8. 2006
  10. ncbi request reprint Identification of quantitative trait loci for glucose homeostasis: the Insulin Resistance Atherosclerosis Study (IRAS) Family Study
    Stephen S Rich
    Department of Public Health Sciences, Wake Forest University School of Medicine, 3rd Floor, MRI Center, Winston Salem, NC 27157, USA
    Diabetes 53:1866-75. 2004

Research Grants

  1. Type 1 Diabetes Genetics Consortium
    Stephen Rich; Fiscal Year: 2006
  2. Type 1 Diabetes Genetics Consortium
    Stephen Rich; Fiscal Year: 2007
  3. The role of copy number variants (CNV) in type 1 diabetes
    Stephen Rich; Fiscal Year: 2009

Detail Information

Publications74

  1. ncbi request reprint Association of protein tyrosine phosphatase-N1 polymorphisms with coronary calcified plaque in the Diabetes Heart Study
    Kathryn P Burdon
    Department of Biochemistry, Wake Forest University School of Medicine, Medical Center Boulevard, Winston Salem, NC 27157, USA
    Diabetes 55:651-8. 2006
    ..53 +/- 0.1 to 0.57 +/- 0.1 (P = 8.1 x 10(-10)), suggesting a modest but detectable effect of this gene on the phenotype of CorCP in type 2 diabetic patients...
  2. pmc The Ischemic Stroke Genetics Study (ISGS) Protocol
    James F Meschia
    Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA
    BMC Neurol 3:4. 2003
    ..Our aim is to investigate potential associations between hemostatic gene polymorphisms and ischemic stroke, with particular emphasis on detailed characterization of the phenotype...
  3. pmc Genetic analysis of the GLUT10 glucose transporter (SLC2A10) polymorphisms in Caucasian American type 2 diabetes
    Jennifer L Bento
    Department of Biochemistry, Wake Forest University School of Medicine, Winston Salem, North Carolina, 27157, USA
    BMC Med Genet 6:42. 2005
    ..GLUT10 (gene symbol SLC2A10) is a facilitative glucose transporter within the type 2 diabetes (T2DM)-linked region on chromosome 20q12-13.1. Therefore, we evaluated GLUT10 as a positional candidate gene for T2DM in Caucasian Americans...
  4. pmc Age-stratified QTL genome scan analyses for anthropometric measures
    Stephanie R Beck
    Department of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, North Carolina, USA
    BMC Genet 4:S31. 2003
    ....
  5. pmc Age-stratified heritability estimation in the Framingham Heart Study families
    W Mark Brown
    Department of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, North Carolina, USA
    BMC Genet 4:S32. 2003
    ....
  6. ncbi request reprint Genetics of diabetes and its complications
    Stephen S Rich
    Department of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, NC, USA
    J Am Soc Nephrol 17:353-60. 2006
  7. ncbi request reprint The genetic basis of glucose homeostasis
    Stephen S Rich
    Department of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Curr Diabetes Rev 1:221-6. 2005
    ..Ultimately, knowledge of the genetic basis of glucose homeostasis will facilitate the development of more directed therapies for prevention and treatment of diabetes and other diseases associated with disordered glucose metabolism...
  8. ncbi request reprint Challenges and strategies for investigating the genetic complexity of common human diseases
    Stephen S Rich
    Department of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157, USA
    Diabetes 51:S288-94. 2002
    ....
  9. ncbi request reprint The Type 1 Diabetes Genetics Consortium
    Stephen S Rich
    Department of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Ann N Y Acad Sci 1079:1-8. 2006
    ..From these families, the T1DGC is establishing banks of DNA, serum, plasma, and cell lines, as well as useful databases. The T1DGC also sponsors training opportunities (bioinformatics) and technology transfer (HLA genotyping)...
  10. ncbi request reprint Identification of quantitative trait loci for glucose homeostasis: the Insulin Resistance Atherosclerosis Study (IRAS) Family Study
    Stephen S Rich
    Department of Public Health Sciences, Wake Forest University School of Medicine, 3rd Floor, MRI Center, Winston Salem, NC 27157, USA
    Diabetes 53:1866-75. 2004
    ....
  11. ncbi request reprint A genome scan for fasting insulin and fasting glucose identifies a quantitative trait locus on chromosome 17p: the insulin resistance atherosclerosis study (IRAS) family study
    Stephen S Rich
    Department of Public Health Sciences, Wake Forest University School of Medicine, 3rd Floor MRI Center, Winston Salem, NC 27157, USA
    Diabetes 54:290-5. 2005
    ..Identifying genes in these regions should provide insight into the nature of genetic factors regulating plasma glucose and insulin concentrations...
  12. ncbi request reprint Evaluation of genetic variation and association in the matrix metalloproteinase 9 (MMP9) gene in ESRD patients
    Shohei Hirakawa
    Department of Biochemistry, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Am J Kidney Dis 42:133-42. 2003
    ..Expression of the matrix metalloproteinase 9 (MMP9) gene is increased in a variety of renal diseases. Several genetic studies have associated MMP9 with end-stage renal disease (ESRD)...
  13. ncbi request reprint Genetic mapping of disposition index and acute insulin response loci on chromosome 11q. The Insulin Resistance Atherosclerosis Study (IRAS) Family Study
    Nicholette D Palmer
    Department of Biochemistry, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Diabetes 55:911-8. 2006
    ..These detailed genetic analyses provide strong evidence of a DI locus on 11q in African-American pedigrees, with additional suggestive evidence of independent AIR loci in the same region...
  14. doi request reprint Genetic analysis of the soluble epoxide hydrolase gene, EPHX2, in subclinical cardiovascular disease in the Diabetes Heart Study
    Kathryn P Burdon
    Department of Biochemistry, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Diab Vasc Dis Res 5:128-34. 2008
    ..057 and 0.080, respectively). These results provide additional evidence that EPHX2 contributes to the risk of subclinical CVD, although the true trait defining polymorphisms may not be identified and the effect size could be small...
  15. ncbi request reprint Heritability of carotid artery intima-medial thickness in type 2 diabetes
    Leslie A Lange
    Department of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Stroke 33:1876-81. 2002
    ..We hypothesize that in families with multiple members having diabetes, carotid IMT is likely to be associated with both inherited and environmental factors...
  16. doi request reprint Association of the distal region of the ectonucleotide pyrophosphatase/phosphodiesterase 1 gene with type 2 diabetes in an African-American population enriched for nephropathy
    Keith L Keene
    Center for Human Genomics, Wake Forest University School of Medicine, Winston Salem, North Carolina, USA
    Diabetes 57:1057-62. 2008
    ..Our objective was to comprehensively evaluate variants in ENPP1 for association with type 2 diabetic end-stage renal disease (ESRD)...
  17. pmc Chromosome 7p linkage and association study for diabetes related traits and type 2 diabetes in an African-American population enriched for nephropathy
    Tennille S Leak
    Center for Human Genomics, Wake Forest University School of Medicine, Winston Salem, NC, USA
    BMC Med Genet 11:22. 2010
    ..Ordered subset linkage analysis (OSA) revealed a linkage peak on chromosome 7p in the subset of families with earlier age of T2D diagnosis...
  18. ncbi request reprint Investigation of the estrogen receptor-alpha gene with type 2 diabetes and/or nephropathy in African-American and European-American populations
    Carla J Gallagher
    Center for Human Genomics, Wake Forest University School of Medicine, Medical Center Blvd, Winston Salem, NC 27157, USA
    Diabetes 56:675-84. 2007
    ..033) were associated with type 2 diabetes and/or ESRD. Results suggest that intron 1 and intron 2 of the ESR1 gene may contain functionally important regions related to type 2 diabetes or ESRD risk...
  19. pmc Comprehensive evaluation of the estrogen receptor alpha gene reveals further evidence for association with type 2 diabetes enriched for nephropathy in an African American population
    Keith L Keene
    Center for Human Genomics, Wake Forest University School of Medicine, Winston Salem, NC, USA
    Hum Genet 123:333-41. 2008
    ..We have identified a novel region of the ESR1 gene that may contain important functional polymorphisms in relation to susceptibility to T2DM and/or diabetic nephropathy...
  20. ncbi request reprint Variants of the transcription factor 7-like 2 (TCF7L2) gene are associated with type 2 diabetes in an African-American population enriched for nephropathy
    Michele M Sale
    Center for Human Genomics, Wake Forest University School of Medicine, Winston Salem, North Carolina, USA
    Diabetes 56:2638-42. 2007
    ..Our objective was to investigate the importance of TCF7L2 in a larger African-American case-control population...
  21. ncbi request reprint Association of alpha2-Heremans-Schmid glycoprotein polymorphisms with subclinical atherosclerosis
    Allison B Lehtinen
    Department of Biochemistry, Wake Forest University School of Medicine, Medical Center Boulevard, Winston Salem, North Carolina 27157, USA
    J Clin Endocrinol Metab 92:345-52. 2007
    ....
  22. ncbi request reprint Association of the estrogen receptor-alpha gene with the metabolic syndrome and its component traits in African-American families: the Insulin Resistance Atherosclerosis Family Study
    Carla J Gallagher
    Department of Biochemistry, Wake Forest University School of Medicine, Winston Salem, North Carolina, USA
    Diabetes 56:2135-41. 2007
    ....
  23. ncbi request reprint Prevalence of nephropathy in black patients with type 2 diabetes mellitus
    James Gitter
    Department of Internal Medicine Nephrology, Wake Forest University School of Medicine, Winston Salem, NC 27157 1053, USA
    Am J Nephrol 22:35-41. 2002
    ..Approximately 70% of black patients with type 2 diabetes cared for in indigent care clinics have abnormal proteinuria and are at heightened risk for ESRD and death...
  24. pmc Association of the proprotein convertase subtilisin/kexin-type 2 (PCSK2) gene with type 2 diabetes in an African American population
    Tennille S Leak
    Center for Human Genomics, Wake Forest University School of Medicine, Winston Salem, NC, USA
    Mol Genet Metab 92:145-50. 2007
    ..028), rs4814597 (Pa=0.039) and rs2269023 (Pa=0.043). None of the PCSK2 SNPs were associated with age at T2DM diagnosis. A variant in the PCKS2 gene, rs2021785, appears to play a role in susceptibility to T2DM in this AA population...
  25. ncbi request reprint Heritability and expression of C-reactive protein in type 2 diabetes in the Diabetes Heart Study
    Leslie A Lange
    Center for Human Genomics, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Ann Hum Genet 70:717-25. 2006
    ..While the APOE locus shows evidence of contributing to CRP levels, no evidence of CRP gene polymorphism association with CRP levels was observed...
  26. ncbi request reprint Association of the mu-opioid receptor gene with type 2 diabetes mellitus in an African American population
    Carla J Gallagher
    Department of Biochemistry, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Mol Genet Metab 87:54-60. 2006
    ..046). Significant, but rare, risk and protective haplotypes were identified as driving these associations with T2DM (P=0.034-0.047). These associations suggest that the OPRM1 gene plays a role in T2DM susceptibility in African Americans...
  27. ncbi request reprint Nephropathy in siblings of African Americans with overt type 2 diabetic nephropathy
    Scott G Satko
    Department of Internal Medicine Nephrology, Wake Forest University School of Medicine, Winston Salem, NC 27157 1053, USA
    Am J Kidney Dis 40:489-94. 2002
    ..The prevalence of abnormal proteinuria and elevated serum creatinine (sCr) concentrations in diabetic sibs of African Americans (AAs) with overt type 2 diabetic nephropathy (DN) or end-stage renal disease (ESRD) is unknown...
  28. ncbi request reprint The impact of pedigree structure on heritability estimates for pulse pressure in three studies
    Fang Chi Hsu
    Department of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Hum Hered 60:63-72. 2005
    ....
  29. ncbi request reprint A genome scan for ESRD in black families enriched for nondiabetic nephropathy
    Barry I Freedman
    Department of Internal Medicine, Wake Forest University School of Medicine, Medical Center Boulevard, Winston Salem, NC 27157 1053, USA
    J Am Soc Nephrol 15:2719-27. 2004
    ..1 and 13q33.3 as contributing to early-onset ESRD and ESRD in the presence of increased BMI, respectively. These regions should receive priority in the search for loci that contribute susceptibility to nondiabetic nephropathy...
  30. ncbi request reprint Genetic susceptibility contributes to renal and cardiovascular complications of type 2 diabetes mellitus
    Barry I Freedman
    Department of Internal Medicine, Wake Forest University School of Medicine, Winston Salem, NC 27157 1053, USA
    Hypertension 48:8-13. 2006
  31. ncbi request reprint Coincident linkage of type 2 diabetes, metabolic syndrome, and measures of cardiovascular disease in a genome scan of the diabetes heart study
    Donald W Bowden
    Center for Human Genomics, Wake Forest University School of Medicine, Medical Center Boulevard, Winston Salem, NC 27157, USA
    Diabetes 55:1985-94. 2006
    ....
  32. ncbi request reprint A leucine repeat in the carnosinase gene CNDP1 is associated with diabetic end-stage renal disease in European Americans
    Barry I Freedman
    Department of Internal Medicine, Center for Human Genomics, Wake Forest University School of Medicine, Medical Center Boulevard, Winston Salem, NC 27157 1053, USA
    Nephrol Dial Transplant 22:1131-5. 2007
    ..A trinucleotide repeat sequence in exon 2 of the carnosinase gene (CNDP1) residing on 18q22.3 was subsequently associated with DN in European Caucasians and Arabs...
  33. pmc Human lipoxygenase pathway gene variation and association with markers of subclinical atherosclerosis in the diabetes heart study
    Kathryn P Burdon
    Department of Biochemistry, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Mediators Inflamm 2010:170153. 2010
    ..Genes of the 5-lipoxygenase pathway are compelling candidates for atherosclerosis. We hypothesize that polymorphisms in ALOX12, ALOX15, ALOX5, and ALOX5AP genes are associated with subclinical atherosclerosis in multiple vascular beds...
  34. ncbi request reprint Genetic contributions to type 2 diabetes: recent insights
    Michele M Sale
    Internal Medicine, Wake Forest University School of Medicine, Center for Human Genomics, Medical Center Blvd, Winston Salem, NC 27157, USA
    Expert Rev Mol Diagn 7:207-17. 2007
    ..These new results provide insights into possible mechanisms influencing disease susceptibility and thus new diagnostic and therapeutic opportunities for Type 2 diabetes...
  35. pmc Association of arachidonate 12-lipoxygenase genotype variation and glycemic control with albuminuria in type 2 diabetes
    Yongmei Liu
    Division of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, NC, UAS
    Am J Kidney Dis 52:242-50. 2008
    ..These products can induce cell hypertrophy, cell proliferation, and extracellular matrix deposition, potentially leading to diabetic nephropathy...
  36. pmc Calcified atherosclerotic plaque and bone mineral density in type 2 diabetes: the diabetes heart study
    J Jeffrey Carr
    Department of Radiology, Wake Forest University School of Medicine, Winston Salem, NC, USA
    Bone 42:43-52. 2008
    ..QCT determined vBMD was more strongly related to CP than aBMD by DXA. The relation between CP and BMD in diabetes is influenced by age, sex, and ethnicity, with further effect modification by hormone replacement therapy...
  37. ncbi request reprint Evidence for a novel type 1 diabetes susceptibility locus on chromosome 8
    Michele M Sale
    Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia
    Diabetes 51:S316-9. 2002
    ..Continued investigation of this region for a novel type 1 diabetes susceptibility gene appears justified...
  38. ncbi request reprint Linkage heterogeneity of end-stage renal disease on human chromosome 10
    Barry I Freedman
    Department of Internal Medicine, Section on Nephrology, The Wake Forest University School of Medicine, Medical Center Boulevard, Winston Salem, NC 27157 1053, USA
    Kidney Int 62:770-4. 2002
    ....
  39. ncbi request reprint Genetic epidemiology of insulin resistance and visceral adiposity. The IRAS Family Study design and methods
    Leora Henkin
    Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Ann Epidemiol 13:211-7. 2003
    ..In this report, we describe the methods of the IRAS Family Study, which was designed to identify the genetic and environmental risk factors for insulin resistance and visceral adiposity...
  40. ncbi request reprint A genome-wide scan for urinary albumin excretion in hypertensive families
    Barry I Freedman
    Department of Internal Medicine, Wake Forest University School of Medicine, Winston Salem, NC 27157 1053, USA
    Hypertension 42:291-6. 2003
    ..They suggest that a gene(s) associated with urinary ACR may be present on human chromosomes 19 and 12...
  41. ncbi request reprint A genome-wide scan for type 2 diabetes in African-American families reveals evidence for a locus on chromosome 6q
    Michele M Sale
    Center for Human Genomics, Wake Forest University School of Medicine, Winston Salem, North Carolina, USA
    Diabetes 53:830-7. 2004
    ..009 for interaction, DeltaP = 0.070 for OSA). These results provide evidence that genes predisposing African-American individuals to type 2 diabetes are located in the 6q and 7p regions of the genome...
  42. ncbi request reprint Linkage of the metabolic syndrome to 1q23-q31 in Hispanic families: the Insulin Resistance Atherosclerosis Study Family Study
    Carl D Langefeld
    Department of Public Health Sciences, Wake Forest University Health Sciences, Winston Salem, North Carolina 27157 1063, USA
    Diabetes 53:1170-4. 2004
    ..These results contribute to the growing evidence that chromosome 1q harbors at least one locus related to the metabolic precursors of diabetes...
  43. ncbi request reprint Heritability of GFR and albuminuria in Caucasians with type 2 diabetes mellitus
    Carl D Langefeld
    Department of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, NC 27157 1053, USA
    Am J Kidney Dis 43:796-800. 2004
    ..Elevated urinary albumin excretion and decreased glomerular filtration rate (GFR) are risk factors for cardiovascular death and end-stage renal disease in individuals with type 2 diabetes mellitus (DM)...
  44. ncbi request reprint A genome scan for diabetic nephropathy in African Americans
    Donald W Bowden
    Department of Biochemistry, Wake Forest University School of Medicine, Medical Center Boulevard, Winston Salem, North Carolina 27157, USA
    Kidney Int 66:1517-26. 2004
    ..There is substantial evidence for a genetic contribution to diabetic nephropathy susceptibility in the African American population, but little is known about location or identity of susceptibility genes...
  45. ncbi request reprint Association of protein tyrosine phosphatase 1B gene polymorphisms with type 2 diabetes
    Jennifer L Bento
    Department of Biochemistry, Wake Forest University School of Medicine, Medical Center Boulevard, Winston Salem, NC 27157, USA
    Diabetes 53:3007-12. 2004
    ..These results suggest that PTPN1 is a significant contributor to type 2 diabetes susceptibility in the Caucasian population. This risk is likely due to noncoding polymorphisms...
  46. ncbi request reprint Relationship between albuminuria and cardiovascular disease in Type 2 diabetes
    Barry I Freedman
    Department of Internal Medicine Nephrology, Wake Forest University School of Medicine, Medical Center Boulevard, Winston Salem, NC 27157 1053, USA
    J Am Soc Nephrol 16:2156-61. 2005
    ..004) and carotid artery calcium (P = 0.0004). Albuminuria is strongly associated with calcified plaque in the coronary and carotid arteries in white individuals with type 2 diabetes and relatively preserved renal function...
  47. ncbi request reprint T-786C polymorphism of the endothelial nitric oxide synthase gene is associated with albuminuria in the diabetes heart study
    Yongmei Liu
    Wake Forest University School of Medicine, Department of Public Health Sciences, Medical Center Boulevard, Winston Salem, NC 27157, USA
    J Am Soc Nephrol 16:1085-90. 2005
    ..The -786C eNOS variant was positively correlated with a higher prevalence and a greater degree of albuminuria in European American families in both diabetic and nondiabetic family members...
  48. ncbi request reprint A genome scan for all-cause end-stage renal disease in African Americans
    Barry I Freedman
    Department of Internal Medicine Section on Nephrology, Wake Forest University School of Medicine, Medical Center Boulevard, Winston Salem, NC 27157 1053, USA
    Nephrol Dial Transplant 20:712-8. 2005
    ....
  49. ncbi request reprint P-selectin gene haplotype associations with albuminuria in the Diabetes Heart Study
    Yongmei Liu
    Department of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157, USA
    Kidney Int 68:741-6. 2005
    ..We investigated the relationship between P-selectin gene polymorphisms and albuminuria in 565 European American siblings (84% with type 2 diabetes) from 227 families participating in the Diabetes Heart Study (DHS)...
  50. pmc Association of the FBXO11 gene with chronic otitis media with effusion and recurrent otitis media: the Minnesota COME/ROM Family Study
    Fernando Segade
    Department of Internal Medicine, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Arch Otolaryngol Head Neck Surg 132:729-33. 2006
    ..We have evaluated single nucleotide polymorphisms (SNPs) in the FBXO11 gene for association with chronic otitis media with effusion/recurrent otitis media (COME/ROM)...
  51. ncbi request reprint A functional polymorphism in the lymphotoxin-alpha gene is associated with carotid artery wall thickness: the Diabetes Heart Study
    Yongmei Liu
    Departments of Public Health Sciences bInternal Medicine, Wake Forest University School of Medicine, Winston Salem, North Carolina, USA
    Eur J Cardiovasc Prev Rehabil 13:655-7. 2006
    ..We tested for an association between a functional polymorphism, LTA 252A/G, and common carotid artery intima-media thickness in 1088 siblings from 435 Diabetes Heart Study families...
  52. ncbi request reprint Variants of the CD40 gene but not of the CD40L gene are associated with coronary artery calcification in the Diabetes Heart Study (DHS)
    Kathryn P Burdon
    Department of Biochemistry, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Am Heart J 151:706-11. 2006
    ..These processes are implicated in the development and progression of atherosclerosis. Animal models demonstrate that interruption of CD40/CD40L signaling produces a more fibrous and stable atherosclerotic lesion...
  53. ncbi request reprint Association of the tissue kallikrein gene promoter with ESRD and hypertension
    Hongrun Yu
    Department of Biochemistry, Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Kidney Int 61:1030-9. 2002
    ..In this report, we genetically evaluated the association of KLK1 gene promoter alleles with end-stage renal disease (ESRD) in African Americans...
  54. ncbi request reprint Genetic modifiers of the age at diagnosis of diabetes (MODY3) in carriers of hepatocyte nuclear factor-1alpha mutations map to chromosomes 5p15, 9q22, and 14q24
    Sung 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...
  55. pmc Quantitative-trait loci influencing body-mass index reside on chromosomes 7 and 13: the National Heart, Lung, and Blood Institute Family Heart Study
    Mary F Feitosa
    Division of Biostatistics, Washington University School of Medicine, St Louis, MO 63110 1093, USA
    Am J Hum Genet 70:72-82. 2002
    ..For the combined-sample analysis, evidence of linkage was also found on chromosome 13q14, with D13S257 (LOD score 3.2, P=.00006), and other, weaker signals (LOD scores 1.5-1.9) were found on chromosomes 1, 2, 3, 5, 6, 14, and 15...
  56. ncbi request reprint Genome-wide scan for estimated glomerular filtration rate in multi-ethnic diabetic populations: the Family Investigation of Nephropathy and Diabetes (FIND)
    Jeffrey R Schelling
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Wolstein Research Building, Rm 1300, 10900 Euclid Ave, Cleveland, OH 44106 7281, USA
    Diabetes 57:235-43. 2008
    ..Glomerular filtration rate (GFR), which characterizes diabetic nephropathy, was employed as a quantitative trait in a preliminary whole-genome scan...
  57. pmc Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery
    Katrina Gwinn
    National Institute for Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 2:e1254. 2007
    ..This resource should facilitate genetic discoveries which we anticipate will ultimately provide a better understanding of the biological mechanisms of neurodegeneration in ALS...
  58. ncbi request reprint Association study of autoimmune thyroid disease at 5q23-q33 in Japanese patients
    Takashi Akamizu
    Department of Experimental Therapeutics, Translational Research Center, Kyoto University Hospital, 54 Shogoin Kawaharacho, Sakyo ku, Kyoto 606 8507, Japan
    J Hum Genet 48:236-42. 2003
    ..These findings suggest the presence of susceptible genes of AITD, especially distinct subgroups of GD, in or near 5q23-q33...
  59. ncbi request reprint Familial clustering for features of the metabolic syndrome: the National Heart, Lung, and Blood Institute (NHLBI) Family Heart Study
    Weihong Tang
    Division of Epidemiology and Community Health, University of Minnesota, 1300 South Second St, Suite 300, Minneapolis, MN 55454, USA
    Diabetes Care 29:631-6. 2006
    ..We present a bivariate genetic analysis of MetS-related traits including both traditional and novel risk factors...
  60. ncbi request reprint Genetic linkage and association of Fcgamma receptor IIIA (CD16A) on chromosome 1q23 with human systemic lupus erythematosus
    Jeffrey C Edberg
    University of Alabama at Birmingham, Birmingham, Alabama 35294 0006, USA
    Arthritis Rheum 46:2132-40. 2002
    ....
  61. pmc Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus
    Robert R Graham
    Department of Medicine, Division of Rheumatic and Autoimmune Diseases, University of Minnesota Medical School, Minneapolis, MN, 55455, USA
    Am J Hum Genet 71:543-53. 2002
    ..We conclude that HLA class II haplotypes containing DRB1 and DQB1 alleles are strong risk factors for human SLE...
  62. ncbi request reprint Type 1 diabetes: evidence for susceptibility loci from four genome-wide linkage scans in 1,435 multiplex families
    Patrick Concannon
    Benaroya Research Institute, Seattle, Washington, USA
    Diabetes 54:2995-3001. 2005
    ..The results demonstrate some consistency emerging for the existence of susceptibility loci on chromosomes 2q31-q33, 6q21, 10p14-q11, and 16q22-q24 but diminished support for some previously reported locations...
  63. ncbi request reprint Linkage analysis of a composite factor for the multiple metabolic syndrome: the National Heart, Lung, and Blood Institute Family Heart Study
    Weihong Tang
    Division of Epidemiology, University of Minnesota, Minneapolis 55454, USA
    Diabetes 52:2840-7. 2003
    ..34 at 240 cM. Suggestive linkage was also observed for regions on chromosomes 7, 12, 14, and 15. In summary, a genomic region on chromosome 2 may contain a pleiotropic locus contributing to the clustering of MMS-related phenotypes...
  64. ncbi request reprint Pericardial and visceral adipose tissues measured volumetrically with computed tomography are highly associated in type 2 diabetic families
    Guy L Wheeler
    Department of Radiology, University of Missouri Health Care, Columbia, Missouri, USA
    Invest Radiol 40:97-101. 2005
    ..We describe a new method for quantifying pericardial adipose tissue volumes with computed tomography (CT), and present its precision and relation to established measures of adiposity...
  65. ncbi request reprint A genome-wide scan for juvenile rheumatoid arthritis in affected sibpair families provides evidence of linkage
    Susan D Thompson
    Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
    Arthritis Rheum 50:2920-30. 2004
    ..A genome scan was performed to detect linkage to JRA in 121 families containing 247 affected children in North America (the JRA Affected Sibpair [ASP] Registry)...
  66. ncbi request reprint Quantitative trait loci on chromosome 8q24 for pancreatic beta-cell function and 7q11 for insulin sensitivity in obese nondiabetic white and black families: evidence from genome-wide linkage scans in the NHLBI Hypertension Genetic Epidemiology Network (Hy
    Ping An
    Division of Statistical Genomics, Department of Genetics, Washington University School of Medicine, St Louis, MO 63110, USA
    Diabetes 55:551-8. 2006
    ..These regions replicate previous reports for type 2 diabetes-associated traits...
  67. ncbi request reprint Identification of a locus for maturity-onset diabetes of the young on chromosome 8p23
    Sung 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...
  68. ncbi request reprint A genome-wide linkage scan for genes controlling variation in renal function estimated by serum cystatin C levels in extended families with type 2 diabetes
    Grzegorz Placha
    Section on Genetics and Epidemiology, Joslin Diabetes Center, One Joslin Place, Boston, MA 02215, USA
    Diabetes 55:3358-65. 2006
    ..None of these genes overlaps with genes controlling variation in urinary albumin excretion...
  69. ncbi request reprint Examination of candidate chromosomal regions for type 2 diabetes reveals a susceptibility locus on human chromosome 8p23.1
    Marcus G Pezzolesi
    Section on Genetics and Epidemiology, Joslin Diabetes Center, Boston, Massachusetts, USA
    Diabetes 53:486-91. 2004
    ..Although we were able to replicate linkage in our pedigrees on chromosome 2p, we did not find evidence of linkage for regions on 1q, 2q, 3q, 5q, 9q, or 10q...
  70. ncbi request reprint A genome-wide search for allergic response (atopy) genes in three ethnic groups: Collaborative Study on the Genetics of Asthma
    Malcolm N Blumenthal
    Department of Medicine, University of Minnesota, MMC 434 Mayo, 420 Delaware SE, Minneapolis, MN 55455, USA
    Hum Genet 114:157-64. 2004
    ..65), 8p (D8S1113, lod=1.60), 12p (D12S372, lod=1.54) and 14q (D14S749, lod=1.70). These results suggest that several regions may harbor genes contributing to the risk for atopy and these may interact with one another in a complex manner...
  71. pmc IL1RN VNTR polymorphism in ischemic stroke: analysis in 3 populations
    Bradford B Worrall
    Department of Neurology, University of Virginia Health System, Charlottesville, VA, USA
    Stroke 38:1189-96. 2007
    ..The purpose of this study was to confirm our earlier finding of an association between allele 2 of a variable number tandem repeat of the IL-1 receptor antagonist gene (IL1RN) and cerebrovascular disease...
  72. ncbi request reprint Genome-wide scans for diabetic nephropathy and albuminuria in multiethnic populations: the family investigation of nephropathy and diabetes (FIND)
    Sudha K Iyengar
    FIND Genetic Analysis and Data Coordinating Center, Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106 7281, USA
    Diabetes 56:1577-85. 2007
    ..Large family collections consisting of multiple members with diabetes and advanced nephropathy are likely to accelerate the identification of genes causing diabetic nephropathy, a life-threatening complication of diabetes...
  73. pmc A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release
    Mar Matarin
    Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Lancet Neurol 6:414-20. 2007
    ..We aimed to identify any common genetic variability exerting a moderate to large effect on risk of ischaemic stroke, and to generate publicly available genome-wide genotype data to facilitate others doing the same...
  74. pmc Phosphodiesterase 4D and 5-lipoxygenase activating protein in ischemic stroke
    James F Meschia
    Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
    Ann Neurol 58:351-61. 2005
    ..There was no evidence of association between variants of ALOX5AP and ischemic stroke. These data suggest that common variants in PDE4D may contribute to the genetic risk for ischemic stroke in multiple populations...

Research Grants3

  1. Type 1 Diabetes Genetics Consortium
    Stephen Rich; Fiscal Year: 2006
    ..The Consortium will gain a better understanding of disease mechanisms, with a purpose of altering these mechanisms and pathways in individuals at risk of type 1 diabetes. ..
  2. Type 1 Diabetes Genetics Consortium
    Stephen Rich; Fiscal Year: 2007
    ..The Consortium will gain a better understandingof disease mechanisms, with a purpose of altering these mechanisms and pathways in individualsat risk of type 1 diabetes. ..
  3. The role of copy number variants (CNV) in type 1 diabetes
    Stephen Rich; Fiscal Year: 2009
    ..Identification of genetic risk factors for T1D is the first step in risk prediction, intervention and developing disease therapeutics (prevention). ..