Research Topics
Genomes and Genes
Species | Braxton MitchellSummaryAffiliation: University of Maryland Country: USA Publications
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Publications
Living the good life? Mortality and hospital utilization patterns in the Old Order AmishBraxton D Mitchell
Department of Medicine, Program for Personalized and Genomic Medicine, University of Maryland School of Medicine, Baltimore, MD, USA
PLoS ONE 7:e51560. 2012....
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...
Evaluation of self-reported ethnicity in a case-control population: the stroke prevention in young women studyJesse B Mez
Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, USA
BMC Res Notes 2:260. 2009..Here we apply a model-based clustering approach to our case-control study of stroke among young women to examine if self-reported ethnicity can serve as a proxy for genetic ancestry...
Neuroserpin polymorphisms and stroke risk in a biracial population: the stroke prevention in young women studyJohn W Cole
Veterans Affairs Medical Center, Baltimore, Maryland, USA
BMC Neurol 7:37. 2007..We sought to evaluate the association of neuroserpin polymorphisms with risk for ischemic stroke among young women...
Thrombomodulin Ala455Val Polymorphism and the risk of cerebral infarction in a biracial population: the Stroke Prevention in Young Women StudyJohn W Cole
Department of Neurology, University of Maryland School of Medicine, Baltimore, Maryland, USA
BMC Neurol 4:21. 2004..Using data from the Stroke Prevention in Young Women Study, we sought to determine the association between the Ala455Val thrombomodulin polymorphism and the occurrence of ischemic stroke in young women...
Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart StudyPatrick F McArdle
Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA
BMC Med Genet 9:67. 2008..We assessed the role of genetic variation in three subunits of the neuromuscular nicotinic acetylcholine receptor positioned on chromosome 2q, a region showing replicated evidence of linkage to blood pressure...
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...
Insulin sensitivity, body fat distribution, and family diabetes history: the IRAS Family StudyBraxton D Mitchell
University of Maryland School of Medicine, Division of Endocrinology, Diabetes, and Nutrition, 660 W Redwood Street, Room 492, Baltimore, MD 21201, USA
Obes Res 12:831-9. 2004..Whether diabetes family history (FH) also predicts visceral fat accumulation and, if so, whether the increased insulin resistance in relatives of diabetic subjects occurs independently of visceral fat accumulation are not known...
Genomic imprinting in diabetesBraxton D Mitchell
Division of Endocrinology, Diabetes and Nutrition, University of Maryland, 6601 West Redwood Street, Baltimore, MD 21201, USA
Genome Med 2:55. 2010..We summarize current views on the role of imprinting in diabetes and in particular chromosome 6q24-related transient neonatal diabetes mellitus, the best known example of an imprinted genetic disorder that leads to diabetes...
The genetics of bone loss: challenges and prospectsBraxton D Mitchell
Department of Medicine, Division of Endocrinology, Diabetes, and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA
J Clin Endocrinol Metab 96:1258-68. 2011..However, much less is known about the genetics of age-related bone loss. Identifying bone loss-related genes may provide new routes for therapeutic intervention and osteoporosis prevention...
Genetic and environmental determinants of bone mineral density in Mexican Americans: results from the San Antonio Family Osteoporosis StudyBraxton D Mitchell
Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, MD 21201, USA
Bone 33:839-46. 2003..Identifying the individual genes involved will shed insights into the processes that govern bone remodeling and may suggest strategies for the prevention of osteoporosis...
Familial aggregation of nutrient intake and physical activity: results from the San Antonio Family Heart StudyBraxton D Mitchell
Department of Medicine, University of Maryland School of Medicine, Baltimore 21201, USA
Ann Epidemiol 13:128-35. 2003..To evaluate the extent to which levels of physical activity and nutrient intake aggregate in families, and secondarily, to assess the repeatability of these behavioral measures over a 5-year period...
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...
Genetic determinants of diabetes and atherosclerosisBraxton D Mitchell
Division of Endocrinology, Diabetes, and Nutrition, University of Maryland School of Medicine, 660 W Redwood Street, Room 492, Baltimore 21201, USA
Curr Atheroscler Rep 4:193-8. 2002....
Heritability of life span in the Old Order AmishB D Mitchell
Department of Medicine, Division of Endocrinology, University of Maryland School of Medicine, 660 W Redwood St, Baltimore, MD 21201, USA
Am J Med Genet 102:346-52. 2001..We conclude that longevity is moderately heritable in the OOA, that the genetic effects are additive, and that genetic influences on longevity are likely to be expressed across a broad range of ages. Published 2001 Wiley-Liss, Inc...
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)...
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...
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...
Relation of candidate genes that encode for endothelial function to migraine and stroke: the Stroke Prevention in Young Women studyLeah R MacClellan
Department of Epidemiology and Preventive Medicine, University of Maryland School of Medicine, Baltimore, MD 21201 1559, USA
Stroke 40:e550-7. 2009..Genes encoding for endothelial function are promising candidate genes for migraine and stroke susceptibility because of the importance of endothelial function in regulating vascular tone and cerebral blood flow...
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...
Type 2 diabetes is associated with increased bone mineral density in Mexican-American womenW H Linda Kao
Department of Epidemiology, The Johns Hopkins University, Baltimore, MD, USA
Arch Med Res 34:399-406. 2003..Longitudinal studies may be required to better define the mechanisms underlying the observed association between BMD and diabetes...
Sequence variation in IGF1R is associated with differences in insulin levels in nondiabetic Old Order AmishAdam C Naj
Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA
Diabetes Metab Res Rev 25:773-9. 2009..3, in a region of linkage (LOD = 2.53, P = 0.00032) to Insulin30 on an OGTT in the Old Order Amish. Mouse models with beta-cell-specific deficiency of IGF1R demonstrate defects in glucose-stimulated insulin secretion...
Approaches for unraveling the joint genetic determinants of schizophrenia and bipolar disorderPing I Lin
Division of Endocrinology, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA
Schizophr Bull 34:791-7. 2008..We have put a particular emphasis on incorporating the concept of endophenotypes in research of shared genetic liability for these 2 disorders...
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...
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....
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...
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...
Bitter taste receptors influence glucose homeostasisCedrick D Dotson
Department of Anatomy and Neurobiology, University of Maryland School of Medicine, Baltimore, MD, USA
PLoS ONE 3:e3974. 2008..Together, these findings suggest that a functionally compromised TAS2R receptor negatively impacts glucose homeostasis, providing an important link between alimentary chemosensation and metabolic disease...
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...
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...
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...
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...
Family history of type 2 diabetes is associated with increased carotid artery intimal-medial thickness in Mexican AmericansW H Linda Kao
Department of Epidemiology, Bloomberg School of Public Health, John's Hopkins University, Baltimore, Maryland, USA
Diabetes Care 28:1882-9. 2005....
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....
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...
Variation in the gene TAS2R38 is associated with the eating behavior disinhibition in Old Order Amish womenCedrick D Dotson
Department of Anatomy and Neurobiology, University of Maryland School of Medicine, Baltimore, MD 21201, USA
Appetite 54:93-9. 2010..Therefore, our results indicate that a polymorphism in TAS2R38 is associated with differences in ingestive behavior...
Association between Val108/158 Met polymorphism of the COMT gene and schizophreniaIkwunga Wonodi
Maryland Psychiatric Research Center, University of Maryland School of Medicine, Baltimore, Maryland 21228, USA
Am J Med Genet B Neuropsychiatr Genet 120:47-50. 2003..These results provide support for a role of this variant in the etiopathophysiology of schizophrenia...
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...
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...
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...
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...
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...
Dopamine transporter polymorphism modulates oculomotor function and DAT1 mRNA expression in schizophreniaIkwunga Wonodi
Maryland Psychiatric Research Center, Department of Psychiatry, University of Maryland School of Medicine, Baltimore, 21228, USA
Am J Med Genet B Neuropsychiatr Genet 150:282-9. 2009..05), but higher expression in schizophrenia donors. Findings suggest regulatory effects of another gene(s) or etiological factor in schizophrenia, which modulate DAT1 gene function...
Ischemic stroke risk, smoking, and the genetics of inflammation in a biracial population: the stroke prevention in young women studyJohn W Cole
Veterans Affairs Medical Center, Baltimore, Maryland, USA
Thromb J 6:11. 2008..Here we evaluate the association of several inflammatory gene single nucleotide polymorphisms (SNPs) with ischemic stroke risk among young women, further stratified by current cigarette smoking status...
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...
Sensory gating endophenotype based on its neural oscillatory pattern and heritability estimateL Elliot Hong
Maryland Psychiatric Research Center, Department of Psychiatry, University of Maryland School of Medicine, Baltimore, MD 21228, USA
Arch Gen Psychiatry 65:1008-16. 2008..Frequency-specific sensory gating may be less complex than the P50 response, and therefore closer to the direct genetic effects, and thus a more valid endophenotype...
Evidence of missense mutations on the neuregulin 1 gene affecting function of prepulse inhibitionL Elliot Hong
Department of Psychiatry, Maryland Psychiatric Research Center, Baltimore, Maryland 21228, USA
Biol Psychiatry 63:17-23. 2008..A widely used surrogate measure of psychosis in animal models, PPI is considered a schizophrenia endophenotype. We hypothesized that if NRG1 influences PPI in rodents, then it should have a similar effect on PPI in humans...
Dihydropyrimidinase-related protein 2 (DRP-2) gene and association to deficit and nondeficit schizophreniaL Elliot Hong
Department of Psychiatry, Maryland Psychiatric Research Center, School of Medicine, University of Maryland, Baltimore, 21228, USA
Am J Med Genet B Neuropsychiatr Genet 136:8-11. 2005..2%, P =0.050) forms of schizophrenia compared to controls (allele frequency 25.0%). We conclude that the DRP-2 *2236 C allele may mark another polymorphism in DRP-2, or in a nearby gene, that may influence susceptibility to schizophrenia...
Familial aggregation of ischemic stroke in young women: the Stroke Prevention in Young Women StudyLeah R MacClellan
Department of Epidemiology and Preventive Medicine, School of Medicine, University of Maryland, Baltimore, MD, USA
Genet Epidemiol 30:602-8. 2006..To address this issue, we compared the frequency of stroke in relatives of stroke cases to that in relatives of controls across different ages and by stroke subtype...
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...
Association of a polymorphism in the betacellulin gene with type 1 diabetes mellitus in two populationsKristi D Silver
Department of Medicine, Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, 21201, USA
J Mol Med (Berl) 84:616-23. 2006..We conclude that the intron 4 T-4 allele in the betacellulin gene is associated with lower risk of T1DM and may interact with HLA. Further studies will be necessary to establish the significance of this association...
Familial aggregation of eye-tracking endophenotypes in families of schizophrenic patientsL Elliot Hong
Maryland Psychiatric Research Center, Department of Psychiatry, University of Maryland School of Medicine, Baltimore, USA
Arch Gen Psychiatry 63:259-64. 2006..Recent studies have suggested that deficit in predictive pursuit, a specific component of the SPEMs, marks schizophrenia susceptibility...
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...
The exon 1 Cys7Gly polymorphism within the betacellulin gene is associated with type 2 diabetes in African AmericansKristi Silver
Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA
Diabetes 54:1179-84. 2005..Further studies will be needed to understand the different roles that betacellulin polymorphisms play in susceptibility to type 2 diabetes in Caucasians and African Americans...
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...
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)...
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...
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...
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...
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...
Persistent Staphylococcus aureus colonization is not a strongly heritable trait in Amish familiesMary Claire Roghmann
University of Maryland School of Medicine, Baltimore, Maryland, United States of America
PLoS ONE 6:e17368. 2011..aureus colonization in this community...
Genome-wide linkage and association analyses to identify genes influencing adiponectin levels: the GEMS StudyHua Ling
Department of Epidemiology and Preventive Medicine, University of Maryland, Baltimore, Maryland, USA
Obesity (Silver Spring) 17:737-44. 2009..We additionally identified a second gene (CDH13) possibly influencing variation in adiponectin levels. The impact of these SNPs on health and disease has yet to be determined...
Investigating parent of origin effects in studies of type 2 diabetes and obesityEvadnie Rampersaud
Division of Endocrinology, Diabetes and Nutrition, University of Maryland, Baltimore, MD, USA
Curr Diabetes Rev 4:329-39. 2008..Through this paper, we hope emphasizes the potentially significant importance of POE in the etiology of T2DM and obesity...
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...
The genetics of obesity in Mexican Americans: the evidence from genome scanning efforts in the San Antonio family heart studyAnthony G Comuzzie
Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, Texas 78245, USA
Hum Biol 75:635-46. 2003..Here, we summarize the latest results from our ongoing efforts to identify obesity genes in the San Antonio Family Heart Study...
Pleiotropy and heterogeneity in the expression of atherogenic lipoproteins: the IRAS Family StudyJohn E Hokanson
Department of Preventive Medicine and Biometrics, University of Colorado Health Sciences Center, Denver, Colo 80262, USA
Hum Hered 55:46-50. 2003..Dyslipidemia is an important determinant of coronary disease. Phenotypic correlations between atherogenic lipids are well established, but the contribution of common genetic influences is less clear...
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...
Quantitative trait loci on chromosomes 2p, 4p, and 13q influence bone mineral density of the forearm and hip in Mexican AmericansCandace M Kammerer
Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania 15261, USA
J Bone Miner Res 18:2245-52. 2003..We obtained evidence for QTL on chromosome 4p, affecting forearm BMD overall, and on chromosomes 2p and 13q, affecting hip BMD in men...
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...
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....
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...
Decreased bone mineral density is correlated with increased subclinical atherosclerosis in older, but not younger, Mexican American women and men: the San Antonio Family Osteoporosis StudyJohn R Shaffer
Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, 130 DeSoto Street, Pittsburgh, PA 15261, USA
Calcif Tissue Int 81:430-41. 2007..In summary, our results demonstrate that decreased BMD is correlated with increased IMT in older (but not younger) Mexican American men and women, independent of serum CVD risk factors...
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...
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....
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)...
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....
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...
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...
Phosphodiesterase 4D polymorphisms and the risk of cerebral infarction in a biracial population: the Stroke Prevention in Young Women StudyQing Song
Morehouse School of Medicine, Atlanta, GA 30314, USA
Hum Mol Genet 15:2468-78. 2006..9, P=0.75) or former smokers (OR=1.2, P=0.66), demonstrating a gene-environment interaction (P=0.03). A strong dose-response relationship was also seen among current smokers. No specific risk haplotypes were identified...
Genome-wide linkage of plasma adiponectin reveals a major locus on chromosome 3q distinct from the adiponectin structural gene: the IRAS family studyXiuqing Guo
Medical Genetics Institutes, Cedars Sinai Medical Center, 8700 Beverly Blvd, 665W, Los Angeles, CA 90048, USA
Diabetes 55:1723-30. 2006..Therefore, a quantitative trait locus at 3q27, likely distinct from the APM1 gene, contributes to the variation of plasma adiponectin levels in the Hispanic-American population...
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...
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...
Research Grants
- GENETICS OF BONE DENSITY IN MEXICAN AMERICANSBraxton Mitchell; Fiscal Year: 2001....
- Genetic Influences on Coronary Artery CalcificationBraxton Mitchell; Fiscal Year: 2009..This will impact substantially on mortality, quality of life, and health care costs for millions of middle-aged and elderly Americans. ..
- Genetic Influences on Coronary Artery CalcificationBraxton Mitchell; Fiscal Year: 2007..This will impact substantially on mortality, quality of life, and health care costs for millions of middle-aged and elderly Americans. ..
- GENETICS OF BONE DENSITY IN MEXICAN AMERICANSBraxton Mitchell; Fiscal Year: 2007..abstract_text> ..
- Joint Determinants of Bone Density and CVD CalcificationBraxton Mitchell; Fiscal Year: 2004..Such insights could lead to elucidation of specific genetic pathways that can be exploited in the future for early identification of high-risk individuals, as well as development of new preventive and therapeutic approaches...
- Genetic Influences on Coronary Artery CalcificationBraxton D Mitchell; Fiscal Year: 2010..This will impact substantially on mortality, quality of life, and health care costs for millions of middle-aged and elderly Americans. ..
