Genomes and Genes
Affiliation: University of Miami
- 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...
- Genomic signatures of a global fitness index in a multi-ethnic cohort of womenEvadnie Rampersaud
John P Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA Dr John T Macdonald Foundation Department of Human Genetics, University of Miami, Miami, FL, USA Miller School of Medicine, University of Miami, Miami, FL, USA
Ann Hum Genet 77:147-57. 2013..Importantly, this study validates several genes/pathways previously associated with exercise responsiveness and extends these findings with additional novel genes...
- 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...
- Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amishHaiqing Shen
Division of Endocrinology, Diabetes, and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA
Arch Intern Med 170:1850-5. 2010..Elevated low-density lipoprotein cholesterol (LDL-C) levels are a major cardiovascular disease risk factor. Genetic factors are an important determinant of LDL-C levels...
- 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...
- Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome eraNadine Norton
Cardiovascular Division, Department of Medicine and the Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA
Circ Cardiovasc Genet 5:167-74. 2012..Now broadly applied, exome sequencing data sets provide a novel opportunity to evaluate the allele frequencies of previously published pathogenic rare variants...
- 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...
- 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...
- 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...
- 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...
- Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathyNadine Norton
Cardiovascular Division, Department of Medicine, University of Miami Miller School of Medicine, Miami, FL, USA
Circ Cardiovasc Genet 6:144-53. 2013..However, the lack of segregation of all identified TTN truncating variants illustrates the challenge of determining variant pathogenicity even with full exome sequencing...
- 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...
- Temporal Relationship of Conduction System Disease and Ventricular Dysfunction in LMNA CardiomyopathyChad Brodt
Cardiovascular Division, Miller School of Medicine, University of Miami, Miami, Florida
J Card Fail 19:233-9. 2013..Knowing the time interval between the onset of CSD and its progression to DCM would help to guide clinical care...
- 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...
- Common susceptibility variants examined for association with dilated cardiomyopathyEvadnie Rampersaud
Hussman Institute for Human Genomics, Department of Human Genetics, University of Miami, Miami, FL, USA
Ann Hum Genet 74:110-6. 2010..Our results suggest that examination of common genetic variants may be warranted in future studies of DCM and other Mendelian-like disorders...
- Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathyNadine Norton
Cardiovascular Division, Department of Medicine, University of Miami Miller School of Medicine, Miami, FL 33136 1015, USA
Am J Hum Genet 88:273-82. 2011..Knockdown of bag3 in a zebrafish model recapitulated DCM and heart failure. We conclude that new comprehensive genomic approaches have identified rare variants in BAG3 as causative of DCM...
- Adjusting for covariates on a slippery slope: linkage analysis of change over timeEvadnie Rampersaud
Section of Medical Genetics, Department of Medicine, Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA
BMC Genet 4:S50. 2003....
- Effects of covariates: a summary of Group 5 contributionsElizabeth R Hauser
Section of Medical Genetics, Department of Medicine, Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
Genet Epidemiol 25:S43-9. 2003..Finally, the results of Group 5 studies show that inclusion of covariates can increase the power to detect genes for complex traits, and has the potential to advance an understanding of the role of genes in these complex traits...
- High-density single nucleotide polymorphism screen in a large multiplex neural tube defect family refines linkage to loci at 7p21.1-pter and 2q33.1-q35Demetra S Stamm
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
Birth Defects Res A Clin Mol Teratol 76:499-505. 2006..Further investigation of the genomic screen data identified a single large multiplex family, pedigree 8776, as primarily driving the linkage results on chromosome 7...
- T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect familiesMarcy C Speer
Duke University Medical Center, Center for Human Genetics, Durham, North Carolina 27710, USA
Am J Med Genet 110:215-8. 2002..In addition, we did not identify any new sequence variants. Thus, we conclude that the T locus is not a major locus for human NTDs in this sample...