Research Topics
Species | Stephen RichSummaryAffiliation: Wake Forest University School of Medicine Country: USA Publications
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Publications
Association of protein tyrosine phosphatase-N1 polymorphisms with coronary calcified plaque in the Diabetes Heart StudyKathryn 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...
The Ischemic Stroke Genetics Study (ISGS) ProtocolJames 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...- Genetic analysis of the GLUT10 glucose transporter (SLC2A10) polymorphisms in Caucasian American type 2 diabetesJennifer 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... - Age-stratified QTL genome scan analyses for anthropometric measuresStephanie R Beck
Department of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, North Carolina, USA
BMC Genet 4:S31. 2003.... - Age-stratified heritability estimation in the Framingham Heart Study familiesW Mark Brown
Department of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, North Carolina, USA
BMC Genet 4:S32. 2003.... - Genetics of diabetes and its complicationsStephen 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 - The genetic basis of glucose homeostasisStephen 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... - Challenges and strategies for investigating the genetic complexity of common human diseasesStephen S Rich
Department of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157, USA
Diabetes 51:S288-94. 2002.... - The Type 1 Diabetes Genetics ConsortiumStephen 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)... - Identification of quantitative trait loci for glucose homeostasis: the Insulin Resistance Atherosclerosis Study (IRAS) Family StudyStephen 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.... - A genome scan for fasting insulin and fasting glucose identifies a quantitative trait locus on chromosome 17p: the insulin resistance atherosclerosis study (IRAS) family studyStephen 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... - Evaluation of genetic variation and association in the matrix metalloproteinase 9 (MMP9) gene in ESRD patientsShohei 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)... - Genetic mapping of disposition index and acute insulin response loci on chromosome 11q. The Insulin Resistance Atherosclerosis Study (IRAS) Family StudyNicholette 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... 
Genetic analysis of the soluble epoxide hydrolase gene, EPHX2, in subclinical cardiovascular disease in the Diabetes Heart StudyKathryn 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...- Heritability of carotid artery intima-medial thickness in type 2 diabetesLeslie A Lange
Department of Public Health Sciences, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA
Stroke 33:1876-81. 2002..CONCLUSIONS: These data provide empirical evidence that subclinical cardiovascular disease has a significant genetic component and merits a search for the genes involved in susceptibility to the atherosclerotic complications of diabetes... - Association of the distal region of the ectonucleotide pyrophosphatase/phosphodiesterase 1 gene with type 2 diabetes in an African-American population enriched for nephropathyKeith 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)... 
Chromosome 7p linkage and association study for diabetes related traits and type 2 diabetes in an African-American population enriched for nephropathyTennille 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...- Investigation of the estrogen receptor-alpha gene with type 2 diabetes and/or nephropathy in African-American and European-American populationsCarla 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... - Comprehensive evaluation of the estrogen receptor alpha gene reveals further evidence for association with type 2 diabetes enriched for nephropathy in an African American populationKeith 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... - Variants of the transcription factor 7-like 2 (TCF7L2) gene are associated with type 2 diabetes in an African-American population enriched for nephropathyMichele 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... - Association of alpha2-Heremans-Schmid glycoprotein polymorphisms with subclinical atherosclerosisAllison 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.... - Association of the estrogen receptor-alpha gene with the metabolic syndrome and its component traits in African-American families: the Insulin Resistance Atherosclerosis Family StudyCarla J Gallagher
Department of Biochemistry, Wake Forest University School of Medicine, Winston Salem, North Carolina, USA
Diabetes 56:2135-41. 2007.... - Prevalence of nephropathy in black patients with type 2 diabetes mellitusJames 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... - Association of the proprotein convertase subtilisin/kexin-type 2 (PCSK2) gene with type 2 diabetes in an African American populationTennille 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... - Heritability and expression of C-reactive protein in type 2 diabetes in the Diabetes Heart StudyLeslie 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... - Association of the mu-opioid receptor gene with type 2 diabetes mellitus in an African American populationCarla 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... - Nephropathy in siblings of African Americans with overt type 2 diabetic nephropathyScott 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..Diabetic sibs of AA individuals with type 2 DN should be the focus of intensive screening and intervention programs to slow the current epidemic of diabetic ESRD... - The impact of pedigree structure on heritability estimates for pulse pressure in three studiesFang Chi Hsu
Department of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
Hum Hered 60:63-72. 2005.... - A genome scan for ESRD in black families enriched for nondiabetic nephropathyBarry 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... - Genetic susceptibility contributes to renal and cardiovascular complications of type 2 diabetes mellitusBarry I Freedman
Department of Internal Medicine, Wake Forest University School of Medicine, Winston-Salem, NC 27157-1053, USA
Hypertension 48:8-13. 2006 - Coincident linkage of type 2 diabetes, metabolic syndrome, and measures of cardiovascular disease in a genome scan of the diabetes heart studyDonald 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.... - A leucine repeat in the carnosinase gene CNDP1 is associated with diabetic end-stage renal disease in European AmericansBarry 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... - Human lipoxygenase pathway gene variation and association with markers of subclinical atherosclerosis in the diabetes heart studyKathryn 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... - Genetic contributions to type 2 diabetes: recent insightsMichele 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... - Association of arachidonate 12-lipoxygenase genotype variation and glycemic control with albuminuria in type 2 diabetesYongmei 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... - Calcified atherosclerotic plaque and bone mineral density in type 2 diabetes: the diabetes heart studyJ 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... - Evidence for a novel type 1 diabetes susceptibility locus on chromosome 8Michele 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... - Linkage heterogeneity of end-stage renal disease on human chromosome 10Barry 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.... - Genetic epidemiology of insulin resistance and visceral adiposity. The IRAS Family Study design and methodsLeora 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... - A genome-wide scan for urinary albumin excretion in hypertensive familiesBarry 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... - A genome-wide scan for type 2 diabetes in African-American families reveals evidence for a locus on chromosome 6qMichele 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... - Linkage of the metabolic syndrome to 1q23-q31 in Hispanic families: the Insulin Resistance Atherosclerosis Study Family StudyCarl 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... - Heritability of GFR and albuminuria in Caucasians with type 2 diabetes mellitusCarl 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..Given their biological and clinical importance and the similarity of these estimates with other cardiovascular disease- and DM-related traits, efforts to map genes that influence GFR and urine ACR levels should have increased importance... - A genome scan for diabetic nephropathy in African AmericansDonald 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... - Association of protein tyrosine phosphatase 1B gene polymorphisms with type 2 diabetesJennifer 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... - Relationship between albuminuria and cardiovascular disease in Type 2 diabetesBarry 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... - T-786C polymorphism of the endothelial nitric oxide synthase gene is associated with albuminuria in the diabetes heart studyYongmei 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... - A genome scan for all-cause end-stage renal disease in African AmericansBarry 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.... - P-selectin gene haplotype associations with albuminuria in the Diabetes Heart StudyYongmei 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)... - Association of the FBXO11 gene with chronic otitis media with effusion and recurrent otitis media: the Minnesota COME/ROM Family StudyFernando 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)... - A functional polymorphism in the lymphotoxin-alpha gene is associated with carotid artery wall thickness: the Diabetes Heart StudyYongmei 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... - 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... - Association of the tissue kallikrein gene promoter with ESRD and hypertensionHongrun 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... - 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... - Quantitative-trait loci influencing body-mass index reside on chromosomes 7 and 13: the National Heart, Lung, and Blood Institute Family Heart StudyMary 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... - 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... - Amyotrophic lateral sclerosis: an emerging era of collaborative gene discoveryKatrina 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... - Association study of autoimmune thyroid disease at 5q23-q33 in Japanese patientsTakashi 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... - Familial clustering for features of the metabolic syndrome: the National Heart, Lung, and Blood Institute (NHLBI) Family Heart StudyWeihong 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... - Genetic linkage and association of Fcgamma receptor IIIA (CD16A) on chromosome 1q23 with human systemic lupus erythematosusJeffrey C Edberg
University of Alabama at Birmingham, Birmingham, Alabama 35294 0006, USA
Arthritis Rheum 46:2132-40. 2002.... - Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosusRobert 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... - Type 1 diabetes: evidence for susceptibility loci from four genome-wide linkage scans in 1,435 multiplex familiesPatrick 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... - Linkage analysis of a composite factor for the multiple metabolic syndrome: the National Heart, Lung, and Blood Institute Family Heart StudyWeihong 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... - Pericardial and visceral adipose tissues measured volumetrically with computed tomography are highly associated in type 2 diabetic familiesGuy L Wheeler
Department of Radiology, University of Missouri Health Care, Columbia, Missouri, USA
Invest Radiol 40:97-101. 2005.... - A genome-wide scan for juvenile rheumatoid arthritis in affected sibpair families provides evidence of linkageSusan D Thompson
Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA
Arthritis Rheum 50:2920-30. 2004..These findings for JRA are consistent with findings for other autoimmune diseases and support the notion that common genetic regions contribute to an autoimmune phenotype... - 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 (HyPing 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... - 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... - A genome-wide linkage scan for genes controlling variation in renal function estimated by serum cystatin C levels in extended families with type 2 diabetesGrzegorz 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... - Examination of candidate chromosomal regions for type 2 diabetes reveals a susceptibility locus on human chromosome 8p23.1Marcus 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... - A genome-wide search for allergic response (atopy) genes in three ethnic groups: Collaborative Study on the Genetics of AsthmaMalcolm 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... - IL1RN VNTR polymorphism in ischemic stroke: analysis in 3 populationsBradford 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... - 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... - A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data releaseMar 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... - Phosphodiesterase 4D and 5-lipoxygenase activating protein in ischemic strokeJames 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 Grants
- Type 1 Diabetes Genetics ConsortiumStephen 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. ..
- Type 1 Diabetes Genetics ConsortiumStephen 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. ..
- The role of copy number variants (CNV) in type 1 diabetesStephen Rich; Fiscal Year: 2009..Identification of genetic risk factors for T1D is the first step in risk prediction, intervention and developing disease therapeutics (prevention). ..