Research Topics
Genomes and Genes
Species | ALAN SHULDINERSummaryAffiliation: University of Maryland Country: USA Publications
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Publications
Modeled nitrate levels in well water supplies and prevalence of abnormal thyroid conditions among the Old Order Amish in PennsylvaniaBriseis Aschebrook-Kilfoy
Occupational and Environmental Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, MD, USA
Environ Health 11:6. 2012..Nitrate intake from drinking water and dietary sources can interfere with the uptake of iodide by the thyroid, thus potentially impacting thyroid function...- Association between bilirubin and cardiovascular disease risk factors: using Mendelian randomization to assess causal inferencePatrick F McArdle
Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, 660 West Redwood Street, RM, 492, Baltimore, MD 21201, USA
BMC Cardiovasc Disord 12:16. 2012..In this report, we demonstrate its use in assessing direct causal relations between serum bilirubin levels and CVD risk factors, including obesity, cholesterol, measures of vascular function and blood pressure... 
CYP2C19 and clopidogrel response: more than validation in the real worldA R Shuldiner
Division of Endocrinology, Diabetes, and Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USA
Clin Pharmacol Ther 91:170-1. 2012..Whether studies from real-world EHR-biobanks will supplant randomized clinical trials to provide a sufficient evidence base to change practice is less certain...- Genetic variation of glucose transporter-1 (GLUT1) and albuminuria in 10,278 European Americans and African Americans: a case-control study in the Atherosclerosis Risk in Communities (ARIC) studyCharles C Hsu
Department of Medicine, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA
BMC Med Genet 12:16. 2011..Our aim was to evaluate associations with albuminuria of six GLUT1 single nucleotide polymorphisms(SNPs), particularly XbaI and the previously associated Enhancer-2 (Enh2) SNP... - Association of APOE polymorphism with chronic kidney disease in a nationally representative sample: a Third National Health and Nutrition Examination Survey (NHANES III) Genetic StudyAudrey Y Chu
Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA
BMC Med Genet 10:108. 2009..However, few data are available in non-European ethnic groups or in a population-based cohort... - Homozygosity by descent mapping of blood pressure in the Old Order Amish: evidence for sex specific genetic architecturePatrick F McArdle
Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA
BMC Genet 8:66. 2007..Each individual in the study has a non zero probability of consanguinity. Systolic and diastolic blood pressures are shown to have appreciable dominance variance components... - Genes and pathophysiology of type 2 diabetes: more than just the Randle cycle all over againAlan R Shuldiner
Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA
J Clin Invest 114:1414-7. 2004..These findings provide insights into how aging modifies genetic susceptibility to alterations in oxidative phosphorylation and T2DM... - Association of cytochrome P450 2C19 genotype with the antiplatelet effect and clinical efficacy of clopidogrel therapyAlan R Shuldiner
Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, 660 W Redwood St, Room 494, Baltimore, MD 21201, USA
JAMA 302:849-57. 2009..However, nonresponsiveness is widely recognized and is related to recurrent ischemic events... 
Genetics of obesity: more complicated than initially thoughtAlan R Shuldiner
Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA
Lipids 38:97-101. 2003..Further research will translate these new insights on the pathophysiological basis of obesity into new medications and diagnostic tests...- Obesity genes and gene-environment-behavior interactions: recommendations for a way forwardAlan R Shuldiner
Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland, USA
Obesity (Silver Spring) 16:S79-81. 2008.... - Pro12Ala of the peroxisome proliferator-activated receptor-gamma2 gene is associated with lower serum insulin levels in nonobese African Americans: the Atherosclerosis Risk in Communities StudyW H Linda Kao
Department of Epidemiology, The Johns Hopkins University School of Hygiene and Public Health, 615 N Wolfe Street, Room W6513, Baltimore, MD 21205, USA
Diabetes 52:1568-72. 2003..We conclude that among nonobese African Americans, the Pro/Ala genotype is associated with markers of greater insulin sensitivity... - Genetic variation in adiponectin receptor 1 and adiponectin receptor 2 is associated with type 2 diabetes in the Old Order AmishColeen M Damcott
Division of Endocrinology, Diabetesand Nutrition, University of Maryland School of Medicine, 660 West Redwood St, Room 494, Baltimore, MD 21201, USA
Diabetes 54:2245-50. 2005..001; OR 1.64-1.71). To our knowledge, these data provide the first evidence for association between variation in the adiponectin receptors and type 2 diabetes... - Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amishPatrick F McArdle
University of Maryland School of Medicine, Baltimore, MD 21201, USA
Arthritis Rheum 58:2874-81. 2008..This study was undertaken to investigate associations between uric acid levels and single-nucleotide polymorphisms (SNPs)... - Variants in scavenger receptor class B type I gene are associated with HDL cholesterol levels in younger womenCaroline G P Roberts
Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
Hum Hered 64:107-13. 2007.... - Eating behavior in the Old Order Amish: heritability analysis and a genome-wide linkage analysisNanette I Steinle
University of Maryland School of Medicine, Baltimore 21201, USA
Am J Clin Nutr 75:1098-106. 2002..4 (P = 0.005) near marker D16S752. The maximum LOD score for hunger was 1.4 (P = 0.005) near marker D3S1278. CONCLUSION: Significant familial effects on eating behavior and suggestive genetic linkage were found in Amish adults... - Polymorphism in the calsequestrin 1 (CASQ1) gene on chromosome 1q21 is associated with type 2 diabetes in the old order AmishMao Fu
Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, MD 21201, USA
Diabetes 53:3292-9. 2004..These findings, coupled with similar findings in Utah Caucasians, suggest that sequence variation in CASQ1 may influence risk of type 2 diabetes... - Exploring the genetics of longevity in the Old Order AmishJohn Sorkin
Department of Medicine, University of Maryland, School of Medicine, Baltimore, MD 21201, USA
Mech Ageing Dev 126:347-50. 2005..In this article, we describe our strategy for identifying variants in genes that influence longevity in the Amish and present the results of our studies to date... - Polymorphisms in both promoters of hepatocyte nuclear factor 4-alpha are associated with type 2 diabetes in the AmishColeen M Damcott
Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, MD 21201, USA
Diabetes 53:3337-41. 2004..022; dominant model, P = 0.010). The results of this study provide evidence that variants in both the P1 and P2 promoters of HNF4A increase risk for typical type 2 diabetes... - Vesicle-associated membrane protein 4, a positional candidate gene on 1q24-q25, is not associated with type 2 diabetes in the Old Order AmishMona M Sabra
Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, MD, United States
Mol Genet Metab 85:133-9. 2005..VAMP4 is expressed in liver and skeletal muscle and participates in intracellular trafficking of secreted and membrane-associated proteins... - A genome-wide scan of serum lipid levels in the Old Order AmishToni I Pollin
Division of Endocrinology, Diabetes, and Nutrition, University of Maryland School of Medicine, 660 W Redwood Street, Room 492, Baltimore, MD 21201, USA
Atherosclerosis 173:89-96. 2004.... - SNP43 of CAPN10 and the risk of type 2 Diabetes in African-Americans: the Atherosclerosis Risk in Communities StudyMichael J Garant
Division of Endocrinology, Diabetes and Nutrition, Department of Medicine, University of Maryland, Baltimore, Maryland 21201, USA
Diabetes 51:231-7. 2002..We conclude from this large prospective study that the G allele of SNP43 of CAPN10 or another allele or gene that is in linkage disequilibrium with it increases susceptibility to type 2 diabetes in African-Americans... - Association between a novel variant of the human type 2 deiodinase gene Thr92Ala and insulin resistance: evidence of interaction with the Trp64Arg variant of the beta-3-adrenergic receptorDaniela Mentuccia
Division of Endocrinology, Diabetes and Nutrition, Department of Medicine, University of Maryland, Baltimore, Maryland 21201, USA
Diabetes 51:880-3. 2002..This variant strongly associates with insulin resistance and, in subjects with the Trp64Arg ADRB3 variant, an increased BMI, suggesting an interaction between these two common gene variants... - Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention programKathleen A Jablonski
The Biostatistics Center, George Washington University, Rockville, Maryland, USA
Diabetes 59:2672-81. 2010.... - Association of the vitamin D metabolism gene CYP24A1 with coronary artery calcificationHaiqing Shen
Division of Endocrinology, University of Maryland School of Medicine, Baltimore, MD 21201, USA
Arterioscler Thromb Vasc Biol 30:2648-54. 2010..We hypothesized that DNA sequence variation in genes regulating vitamin D metabolism and signaling pathways might influence variation in coronary artery calcification (CAC)... - A common variant in fibroblast growth factor binding protein 1 (FGFBP1) is associated with bone mineral density and influences gene expression in vitroNicole Hoppman
Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, MD 21201, USA
Bone 47:272-80. 2010..Collectively, these findings suggest that sequence variation in FGFBP1 may contribute to variation in BMD, possibly influencing osteoporosis risk... - The association of coronary artery calcification and carotid artery intima-media thickness with distinct, traditional coronary artery disease risk factors in asymptomatic adultsEvadnie Rampersaud
Division of Endocrinology, Diabetes and Nutrition, Department of Medicine, University of Maryland, Baltimore, Maryland 21201, USA
Am J Epidemiol 168:1016-23. 2008..Results suggest that some of the same genes influence variation in CAC and low density lipoprotein cholesterol, whereas a different set of genes influences variation in CIMT and waist circumference... - From the Cover: Whole-genome association study identifies STK39 as a hypertension susceptibility geneYing Wang
Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, MD 21201, USA
Proc Natl Acad Sci U S A 106:226-31. 2009..Thus, variants in STK39 may influence BP by increasing STK39 expression and consequently altering renal Na(+) excretion, thus unifying rare and common BP-regulating alleles in the same physiological pathway... - The genetics of obesityColeen M Damcott
Division of Endocrinolog, Diabetes, and Nutrition, University of Maryland School of Medicine, 660 West Redwood Street, Baltimore, MD 21201, USA
Endocrinol Metab Clin North Am 32:761-86. 2003..Positional cloning of these genes will undoubtedly unveil new insights into the molecular and pathophysiologic mechanisms of energy homeostasis and obesity... - Identification of novel candidate genes for type 2 diabetes from a genome-wide association scan in the Old Order Amish: evidence for replication from diabetes-related quantitative traits and from independent populationsEvadnie Rampersaud
Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, 660 West Redwood St, Room 494, Baltimore, MD 21201, USA
Diabetes 56:3053-62. 2007..We sought to identify type 2 diabetes susceptibility genes through a genome-wide association scan (GWAS) in the Amish... - Aspirin Resistance in healthy drug-naive men versus women (from the Heredity and Phenotype Intervention Heart Study)Haiqing Shen
Division of Endocrinology, Diabetes and Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USA
Am J Cardiol 104:606-12. 2009.... - Investigations of the Y chromosome, male founder structure and YSTR mutation rates in the Old Order AmishToni I Pollin
Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA
Hum Hered 65:91-104. 2008..Using Y chromosome short tandem repeat (YSTR) genotypes, (1) evaluate the accuracy and completeness of the Lancaster County Old Order Amish (OOA) genealogical records and (2) estimate YSTR mutation rates... - Physical activity and the association of common FTO gene variants with body mass index and obesityEvadnie Rampersaud
Department of Medicine, University of Maryland, Baltimore, USA
Arch Intern Med 168:1791-7. 2008..The role of lifestyle factors (such as physical activity) in those with an underlying FTO genetic predisposition is unknown... - Associations between genetic variants in the NOS1AP (CAPON) gene and cardiac repolarization in the old order AmishWendy Post
Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD 21287, USA
Hum Hered 64:214-9. 2007..The purpose of the current study was to replicate this association in the Old Order Amish... - The genetic response to short-term interventions affecting cardiovascular function: rationale and design of the Heredity and Phenotype Intervention (HAPI) Heart StudyBraxton D Mitchell
Division of Endocrinology, Department of Medicine, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, MD 21201, USA
Am Heart J 155:823-8. 2008..Efforts to identify genes influencing CVD risk have met with limited success to date, likely because of the small effect sizes of common CVD risk alleles and the presence of gene by gene and gene by environment interactions... - Polymorphisms in the transcription factor 7-like 2 (TCF7L2) gene are associated with type 2 diabetes in the Amish: replication and evidence for a role in both insulin secretion and insulin resistanceColeen M Damcott
Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, MD 21201, USA
Diabetes 55:2654-9. 2006..04 and P = 0.007, respectively). These data provide replicating evidence that variants in TCF7L2 increase the risk for type 2 diabetes and novel evidence that the variants likely influence both insulin secretion and insulin sensitivity... - Quantitative trait loci for BMD identified by autosome-wide linkage scan to chromosomes 7q and 21q in men from the Amish Family Osteoporosis StudyElizabeth A Streeten
Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA
J Bone Miner Res 21:1433-42. 2006..Using autosome-wide linkage analysis in 964 Amish, strong evidence was found for the presence of genes affecting hip and spine BMD in men on chromosomes 7q31 and 21q22 (LOD = 4.15 and 3.36, respectively)... - Reduced incidence of hip fracture in the Old Order AmishElizabeth A Streeten
Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA
J Bone Miner Res 19:308-13. 2004..The incidence of hip fracture was estimated in a community of Old Order Amish and compared with available data from non-Amish whites. Hip fracture rates were 40% lower in the Amish, and the Amish also experienced higher BMD... - Acute-phase serum amyloid A: an inflammatory adipokine and potential link between obesity and its metabolic complicationsRong Ze Yang
Division of Endocrinology, Diabetes, and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland, USA
PLoS Med 3:e287. 2006..However, the molecular and cellular mechanisms that link obesity to chronic inflammation and CVD are poorly understood... - Variants in the ghrelin gene are associated with metabolic syndrome in the Old Order AmishNanette I Steinle
Department of Medicine, University of Maryland, Baltimore, Maryland 21201, USA
J Clin Endocrinol Metab 90:6672-7. 2005..Its gene, GHRL, is located on chromosome 3 in a region where we have shown linkage to eating behavior, percentage body fat, and total and low-density lipoprotein cholesterol levels in subjects of the Amish Family Diabetes Study... - Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effectsMao Fu
Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA
J Clin Endocrinol Metab 89:2916-22. 2004.... - Glucokinase regulatory protein gene polymorphism affects postprandial lipemic response in a dietary intervention studyHaiqing Shen
Division of Endocrinology, Diabetes and Nutrition, Department of Medicine, University of Maryland School of Medicine, 660 West Redwood Street, Rm 494, Baltimore, MD 21201, USA
Hum Genet 126:567-74. 2009..03). Our data indicate that the rs1260326 T allele of GCKR is associated with both higher fasting levels of TG as well as the postprandial TG response, which may result in higher atherogenic risk... - Genetic effects on postprandial variations of inflammatory markers in healthy individualsYu Ching Cheng
Department of Medicine, Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland, USA
Obesity (Silver Spring) 18:1417-22. 2010..Genetic factors appear to play a significant role influencing basal inflammatory levels but to have minimal influence on post-fat intake inflammatory changes... - Genome-wide association scan identifies variants near Matrix Metalloproteinase (MMP) genes on chromosome 11q21-22 strongly associated with serum MMP-1 levelsYu Ching Cheng
Division of Endocrinology, Diabetes and Nutrition, School of Medicine, University of Maryland, Baltimore, MD, USA
Circ Cardiovasc Genet 2:329-37. 2009..Matrix metalloproteinase (MMP)-1 may play a role in cardiovascular disease susceptibility by influencing plaque rupture via its ability to degrade extracellular collagens... - Linkage of plasma adiponectin levels to 3q27 explained by association with variation in the APM1 geneToni I Pollin
Division of Endocrinology, Diabetes, and Nutrition, University of Maryland School of Medicine, 660 W Redwood St, Rm 478, Baltimore, MD 21201, USA
Diabetes 54:268-74. 2005..51 LOD units (to 0.71). These findings, combined with a two-point LOD score of 2.35 for SNP +2019, provide evidence that variation in APM1 is responsible for linkage of adiponectin levels to 3q27 in the Old Order Amish... - Changes in insulin sensitivity in response to troglitazone do not differ between subjects with and without the common, functional Pro12Ala peroxisome proliferator-activated receptor-gamma2 gene variant: results from the Troglitazone in Prevention of DiabeSoren Snitker
Department of Medicine, Division of Endocrinology, Diabetes, and Nutrition, University of Maryland, Baltimore School of Medicine, 660 W Redwood St, Howard Hall Rm 598 B, Baltimore, MD 21201 1596, USA
Diabetes Care 27:1365-8. 2004.... - The relationship between parity and bone mineral density in women characterized by a homogeneous lifestyle and high parityElizabeth A Streeten
Division of Endocrinology, Diabetes, and Nutrition, University of Maryland School of Medicine, Room N3W130, 22 South Greene Street, Baltimore, Maryland 21201, USA
J Clin Endocrinol Metab 90:4536-41. 2005..We reported previously that Old Order Amish (OOA) women have fewer hip fractures and higher bone mineral density (BMD) than non-Amish Caucasian women... - Variation in the lamin A/C gene: associations with metabolic syndromeNanette I Steinle
Department of Medicine, University of Maryland School of Medicine, Baltimore 21201, USA
Arterioscler Thromb Vasc Biol 24:1708-13. 2004..To determine whether polymorphisms in LMNA influence susceptibility to metabolic syndrome and its constituent components... - A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotectionToni I Pollin
Department of Medicine, University of Maryland School of Medicine, Baltimore, MD 21201, USA
Science 322:1702-5. 2008..Subclinical atherosclerosis, as measured by coronary artery calcification, was less common in carriers than noncarriers, which suggests that lifelong deficiency of apoC-III has a cardioprotective effect... - Evidence that Rho guanine nucleotide exchange factor 11 (ARHGEF11) on 1q21 is a type 2 diabetes susceptibility gene in the Old Order AmishMao Fu
Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, MD 21201, USA
Diabetes 56:1363-8. 2007..These results, coupled with similar findings in Pima Indians, suggest that sequence variation in ARHGEF11 may influence risk of type 2 diabetes... - Spaced administration of PA32540 and clopidogrel results in greater platelet inhibition than synchronous administration of enteric-coated aspirin and enteric-coated omeprazole and clopidogrelPaul A Gurbel
Sinai Center for Thrombosis Research, Baltimore, MD, USA
Am Heart J 165:176-82. 2013..Spaced administration of a clopidogrel and a single-tablet formulation of aspirin and immediate-release omeprazole (PA32540) was considered as an alternative that might reduce this potential pharmacodynamic interaction... - TCF7L2 variants associate with CKD progression and renal function in population-based cohortsAnna Kottgen
Department of Epidemiology and Welch Center for Prevention, Epidemiology and Clinical Research, Johns Hopkins University, Baltimore, Maryland, USA
J Am Soc Nephrol 19:1989-99. 2008..In conclusion, several population-based samples suggest that variants in the TCF7L2 gene are associated with reduced kidney function or CKD progression, overall and specifically among participants without diabetes... - Genetics of insulin resistanceMaria M Mercado
Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, 660 W. Redwood Street, Room 494, Baltimore, MD 21201, USA
Curr Diab Rep 2:83-95. 2002.... - Serum 25-hydroxyvitamin d levels are not associated with subclinical vascular disease or C-reactive protein in the old order amishErin D Michos
Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Calcif Tissue Int 84:195-202. 2009..Either there is no causal relationship between 25(OH)D and CVD risk, or if there is, it may be mediated through mechanisms other than subclinical vascular disease severity... - New loci associated with kidney function and chronic kidney diseaseAnna Kottgen
Department of Epidemiology, Johns Hopkins University, Baltimore, Maryland, USA
Nat Genet 42:376-84. 2010..These results further our understanding of the biologic mechanisms of kidney function by identifying loci that potentially influence nephrogenesis, podocyte function, angiogenesis, solute transport and metabolic functions of the kidney... - The role of peroxisome proliferator-activated receptor gamma in diabetes and obesityFrancesco S Celi
University of Maryland School of Medicine, Division of Endocrinology, Diabetes and Nutrition, 660 West Redwood Street, Room 494, Baltimore, MD 21201, USA
Curr Diab Rep 2:179-85. 2002..These findings indicate a central role of PPAR gamma in fat cell biology and in the pathophysiology of obesity, diabetes, and insulin resistance... - Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid functionLisette Arnaud-Lopez
Laboratory of Genetics, National Institute on Aging, Baltimore, MD 21224, USA
Am J Hum Genet 82:1270-80. 2008..This would affect production of T4 and T3 and feedback to alter TSH release by the pituitary. PDE8B may thus provide a candidate target for the treatment of thyroid dysfunction... - Does having children extend life span? A genealogical study of parity and longevity in the AmishPatrick F McArdle
Department of Epidemiology and Preventive Medicine, University of Maryland School of Medicine, Baltimore, MD 21201, USA
J Gerontol A Biol Sci Med Sci 61:190-5. 2006..We evaluated this issue by using genealogical data from an Old Order Amish community in Lancaster, Pennsylvania, a population characterized by large nuclear families, homogeneous lifestyle, and extensive genealogical records... - Determinants of coronary artery and aortic calcification in the Old Order AmishWendy Post
Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD, USA
Circulation 115:717-24. 2007..Our goal was to characterize risk factors for CAC and AC and to estimate the genetic contribution to their variation... - COL4A1 is associated with arterial stiffness by genome-wide association scanKirill V Tarasov
Laboratory of Cardiovascular Science, Laboratory of Genetics, Clinical Research Branch, Intramural Research Program, National Institute on Aging, National Institutes of Health, Baltimore, MD, USA
Circ Cardiovasc Genet 2:151-8. 2009..Heritability and linkage studies have pointed toward a genetic component affecting PWV. We conducted a genome-wide association study to identify single-nucleotide polymorphisms (SNPs) associated with PWV... - Genetics of diabetesRichard B Horenstein
University of Maryland School of Medicine, Division of Endocrinology, Diabetes and Nutrition, 660 West Redwood Street, Room 494, Baltimore, MD 21201, USA
Rev Endocr Metab Disord 5:25-36. 2004 - Comparative studies of resistin expression and phylogenomics in human and mouseRong Ze Yang
Division of Endocrinology, Diabetes and Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA
Biochem Biophys Res Commun 310:927-35. 2003..The high expression of resistin in human leukemia cells suggests a hitherto unidentified biological function of resistin in leukocytes... - Murine alanine aminotransferase: cDNA cloning, functional expression, and differential gene regulation in mouse fatty liverSanjay B Jadhao
Division of Endocrinology, Diabetes and Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA
Hepatology 39:1297-302. 2004.... - The association of podocin R229Q polymorphism with increased albuminuria or reduced estimated GFR in a large population-based sample of US adultsAnna Kottgen
Johns Hopkins University, Baltimore, MD, USA
Am J Kidney Dis 52:868-75. 2008.... - Genotyping: one piece of the puzzle to personalize antiplatelet therapyPaul A Gurbel
Sinai Center for Thrombosis Research, Cardiac Catheterization Laboratory, Sinai Hospital of Baltimore, Baltimore, Maryland 21215, USA
J Am Coll Cardiol 56:112-6. 2010..Prospective clinical trials to test new algorithms for optimal personalized antiplatelet therapy are needed to provide the evidence base required for the routine adoption of genotyping into clinical practice... - A genome-wide scan for autoimmune thyroiditis in the Old Order Amish: replication of genetic linkage on chromosome 5q11.2-q14.3Elsie M Allen
Division of Endocrinology, Diabetes, and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA
J Clin Endocrinol Metab 88:1292-6. 2003..01) to autoimmune thyroiditis and/or AITD-hypothyroidism was also detected in five other regions. We conclude that a gene on chromosome 5q11.2-q14.3 is likely to contribute to susceptibility to AITD in the Amish... - Omentin plasma levels and gene expression are decreased in obesityCelia M de Souza Batista
Division of Endocrinology, Diabetes and Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USA
Diabetes 56:1655-61. 2007..In summary, decreased omentin levels are associated with increasing obesity and insulin resistance. Therefore, omentin levels may be predictive of the metabolic consequences or co-morbidities associated with obesity... - Expression, purification, and initial characterization of human alanine aminotransferase (ALT) isoenzyme 1 and 2 in High-five insect cellsLi Liu
Division of Endocrinology, Diabetes and Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD 21201, USA
Protein Expr Purif 60:225-31. 2008.... - BMI in the Old Order AmishSoren Snitker
Med Sci Sports Exerc 36:1447; author reply 1448. 2004 - A functional variant in the peroxisome proliferator-activated receptor gamma2 promoter is associated with predictors of obesity and type 2 diabetes in Pima IndiansYunhua Li Muller
Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Disease, National Institutes of Health, Phoenix, Arizona 85016, USA
Diabetes 52:1864-71. 2003.... - Association between body fat response to exercise training and multilocus ADR genotypesDana A Phares
Department of Kinesiology, University of Maryland, College Park, MD 20742 2611, USA
Obes Res 12:807-15. 2004..To examine the contribution of adrenergic receptor (ADR) gene polymorphisms and their gene-gene interactions to the variability of exercise training-induced body fat response... - No effect of the Trp64Arg beta(3)-adrenoceptor gene variant on weight loss, body composition, or energy expenditure in obese, caucasian postmenopausal womenEric S Rawson
Department of Medicine, University of Vermont, Burlington, VT, USA
Metabolism 51:801-5. 2002..These results suggest that the presence of the Trp64Arg variant in the beta(3)-adrenoceptor should not be a hindrance to weight reduction... - Activating transcription factor 6 (ATF6) sequence polymorphisms in type 2 diabetes and pre-diabetic traitsWinston S Chu
Division of Endocrinology 111J 1 LR, Department of Medicine, University of Arkansas for Medical Sciences, John L McClellan Memorial Veterans Hospital, 4700 W 7th Street, Little Rock, AR 72205, USA
Diabetes 56:856-62. 2007..ATF6 does not appear to play a major role in type 2 diabetes, but further work is required to identify the cause of the allelic expression imbalance... - Fatty acid binding protein-2 gene variants and insulin resistance: gene and gene-environment interaction effectsEdward P Weiss
Department of Kinesiology, University of Maryland, College Park 20742-2611, USA
Physiol Genomics 10:145-57. 2002..These results highlight the importance of including behavioral and environmental factors in the design of studies seeking to assess the impact of genes on physiological and clinical outcome phenotypes... - Genome-wide and fine-mapping linkage studies of type 2 diabetes and glucose traits in the Old Order Amish: evidence for a new diabetes locus on chromosome 14q11 and confirmation of a locus on chromosome 1q21-q24Wen-Chi Hsueh
Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, Texas, USA
Diabetes 52:550-7. 2003..07, P = 0.000085 for HbA(1c) and LOD = 1.50 for glucose 0). In conclusion, our findings provide evidence that type 2 diabetes susceptibility genes reside on chromosomes 1, 14, and 18... - Variants in ARHGEF11, a candidate gene for the linkage to type 2 diabetes on chromosome 1q, are nominally associated with insulin resistance and type 2 diabetes in Pima IndiansLijun Ma
Diabetes Molecular Genetics Section, Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, AZ 85004, USA
Diabetes 56:1454-9. 2007..01). These findings suggest that variation within ARHGEF11 nominally increases risk of type 2 diabetes, possibly as a result of increased insulin resistance... - Unique lipoprotein phenotype and genotype associated with exceptional longevityNir Barzilai
Institute for Aging Research, Diabetes Research and Training Center, Albert Einstein College of Medicine, New York, NY 10461, USA
JAMA 290:2030-40. 2003..Individuals with exceptional longevity have a lower incidence and/or significant delay in the onset of age-related disease, and their family members may inherit biological factors that modulate aging processes and disease susceptibility... - Endurance training-induced changes in the insulin response to oral glucose are associated with the peroxisome proliferator-activated receptor-gamma2 Pro12Ala genotype in men but not in womenEdward P Weiss
Department of Kinesiology, University of Maryland, College Park, MD 20742, USA
Metabolism 54:97-102. 2005..However, these men are particularly responsive with respect to the magnitude of endurance training-induced improvement in insulin action... - Common variation in the LMNA gene (encoding lamin A/C) and type 2 diabetes: association analyses in 9,518 subjectsKatharine R Owen
Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Old Road, Headington, Oxford OX3 7LJ, U K
Diabetes 56:879-83. 2007..However, in a meta-analysis including other available data, there is evidence that rs4641 has a modest effect on diabetes susceptibility (1.10 [1.04-1.16], P = 0.001)... - A genome-wide linkage scan of insulin level derived traits: the Amish Family Diabetes StudyWen Chi Hsueh
Department of Medicine, School of Medicine, University of California, San Francisco, California, USA
Diabetes 56:2643-8. 2007..The goal of our study was to identify chromosomal regions that are likely to harbor genetic determinants of these traits... - FABP2 Ala54Thr genotype is associated with glucoregulatory function and lipid oxidation after a high-fat meal in sedentary nondiabetic men and womenEdward P Weiss
Department of Kinesiology, University of Maryland, College Park, MD, USA
Am J Clin Nutr 85:102-8. 2007..However, most of those studies have not accounted for the interactive and potentially confounding effects of habitual physical activity and diet... - Newly identified loci that influence lipid concentrations and risk of coronary artery diseaseCristen J Willer
Center for Statistical Genetics, Department of Biostatistics, University of Michigan, 1420 Washington Heights, Ann Arbor, Michigan 48109, USA
Nat Genet 40:161-9. 2008..Notably, the 11 independent variants associated with increased LDL cholesterol concentrations in our study also showed increased frequency in a sample of coronary artery disease cases versus controls... - Common variants in the GDF5-UQCC region are associated with variation in human heightSerena Sanna
Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA
Nat Genet 40:198-203. 2008..44 cm (overall P < 10(-15)). Our results indicate that there may be a link between the genetic basis of height and osteoarthritis, potentially mediated through alterations in bone growth and development... - Meta-analysis of 23 type 2 diabetes linkage studies from the International Type 2 Diabetes Linkage Analysis ConsortiumWeihua Guan
Department of Biostatistics and Center for Statistical Genetics, School of Public Health, University of Michigan, Ann Arbor, Michigan 48109 2029, USA
Hum Hered 66:35-49. 2008..The International Type 2 Diabetes Linkage Analysis Consortium was formed to localize type 2 diabetes predisposing variants based on 23 autosomal linkage scans... - Genetic influences on blood pressure response to the cold pressor test: results from the Heredity and Phenotype Intervention Heart StudyMarie Hélène Roy-Gagnon
Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA
J Hypertens 26:729-36. 2008..Additionally, to our knowledge, no study has examined the genetics of BP recovery from the CPT, including whether shared genetic factors influence both reactivity and recovery... - Polymorphisms in the glucokinase-associated, dual-specificity phosphatase 12 (DUSP12) gene under chromosome 1q21 linkage peak are associated with type 2 diabetesSwapan Kumar Das
Department of Medicine, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA
Diabetes 55:2631-9. 2006..Our data suggest that sequences in or upstream of DUSP12 may contribute to type 2 diabetes susceptibility, but the lack of replication suggests a small effect size... - Adiponectin levels and genotype: a potential regulator of life span in humansGil Atzmon
Institute for Aging Research, Diabetes Research and Training Center, Department of Medicine, Albert Einstein College of Medicine, Bronx, NY, NY 10461, USA
J Gerontol A Biol Sci Med Sci 63:447-53. 2008.... - Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention programAllan F Moore
Center for Human Genetic Research, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA
Diabetes 57:2503-10. 2008.... - Variation within the gene encoding the upstream stimulatory factor 1 does not influence susceptibility to type 2 diabetes in samples from populations with replicated evidence of linkage to chromosome 1qEleftheria Zeggini
Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LJ, UK
Diabetes 55:2541-8. 2006..These data exclude USF1 as a major contributor to type 2 diabetes susceptibility and the basis for the chromosome 1q linkage. They reveal only limited evidence for replication of USF1 effects on continuous metabolic traits... - TCF7L2 polymorphisms and progression to diabetes in the Diabetes Prevention ProgramJose C Florez
Diabetes Prevention Program Outcomes Study Coordinating Center, George Washington University, Rockville, MD 20852, USA
N Engl J Med 355:241-50. 2006.... - Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levelsWei Min Chen
Department of Public Health Sciences, University of Virginia, Charlottesville, Virginia, USA
J Clin Invest 118:2620-8. 2008.... - The Thr92Ala deiodinase type 2 (DIO2) variant is not associated with type 2 diabetes or indices of insulin resistance in the old order of AmishDaniela Mentuccia
Clinical Endocrinology Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892 1613, USA
Thyroid 15:1223-7. 2005..These findings could be secondary to a different genetic background or to environmental factors specific for this population... - Genetic and environmental influences on bone mineral density in pre- and post-menopausal womenLillian B Brown
Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor, MI, USA
Osteoporos Int 16:1849-56. 2005..Overall, these analyses suggest that many, but not all, of the genetic factors influencing variation in BMD are common to both pre- and post-menopausal women... - Differences in prevalence and severity of coronary artery calcification between two non-Hispanic white populations with diverse lifestylesLawrence F Bielak
Department of Epidemiology, University of Michigan, Ann Arbor, MI 48104 3028, USA
Atherosclerosis 196:888-95. 2008....
Research Grants
- GENETICS OF OSTEOPOROSIS IN THE AMISHALAN SHULDINER; Fiscal Year: 2004..This proposal brings together three strong research groups with complementary interests: Alan Shuldiner, M.D. and Elizabeth Streeten, M.D. at the University of Maryland, Braxton Mitchell, Ph.D...
- Longevity Genes in Founder PopulationsALAN SHULDINER; Fiscal Year: 2005..These advances will impact substantially on the health and quality of life of older Americans. ..
- GENETICS OF DIABETES IN THE AMISHALAN SHULDINER; Fiscal Year: 2007..Discovery of T2DM susceptibility genes will provide critical insights into molecular mechanisms that will impact substantially on the care and quality of life of millions of Americans with T2DM. ..
- Genome-wide Search for CVD Gene-Environment InteractionsALAN SHULDINER; Fiscal Year: 2007....
- Clinical Research Career Development (RMI)ALAN SHULDINER; Fiscal Year: 2007..The University of Maryland Multidisciplinary ClinicalResearch Career Development Program will be theprimary mechanism for attracting high qualityjunior faculty andtraining these Scholars in clinicalresearch at UMB. ..
- GENETICS OF DIABETES IN THE AMISHALAN SHULDINER; Fiscal Year: 2007..Discovery of T2DM susceptibility genes will provide critical insights into molecular mechanisms that will impact substantially on the care and quality of life of millions of Americans with T2DM. ..
- GENETIC AND CLINICAL MANIFESTATIONS OF DIABETESALAN SHULDINER; Fiscal Year: 2004..abstract_text> ..
- MALDI-TOF MS for High Throughput SNP AnalysisALAN SHULDINER; Fiscal Year: 2002..These investigators, whose research would be greatly advanced through access to this technology include: (I) Alan Shuldiner (Genetics of diabetes, osteoporosis, and longevity in the Amish; diabetes pharmacogenomics), (2) Frederick ..
- PHARMACOGENETICS OF PRO12ALA PPAR GAMMA 2 IN DIABETESALAN SHULDINER; Fiscal Year: 2002....
- GENETICS OF DIABETES IN THE AMISHALAN SHULDINER; Fiscal Year: 2003..This proposal brings together two strong research groups with complementary interests: Alan Shuldiner, M.D. at the University of Maryland, and Braxton Mitchell, Ph.D...
- GENETICS OF DIABETES IN THE AMISHALAN SHULDINER; Fiscal Year: 2009..In addition, as part of the American Recovery and Reinvestment Act, this Competitive Revision will provide job opportunities and security and stimulate the economy. ..