A5103212163- Sodium Intake and Health
- Muscle Physiology and Disorders
- Neuroscience of respiration and sleep
- Epigenetics and DNA Methylation
- ATP Synthase and ATPases Research
- Ion Transport and Channel Regulation
- Blood Pressure and Hypertension Studies
- Prenatal Screening and Diagnostics
- Hemoglobinopathies and Related Disorders
- Cardiomyopathy and Myosin Studies
- Hormonal Regulation and Hypertension
- Alcohol Consumption and Health Effects
- Physiological and biochemical adaptations
- Nutritional Studies and Diet
- Birth, Development, and Health
- Genetics, Aging, and Longevity in Model Organisms
- Neuroendocrine regulation and behavior
- Inflammasome and immune disorders
- Nicotinic Acetylcholine Receptors Study
- Gout, Hyperuricemia, Uric Acid
University of Maryland, Baltimore
2008-2020
Johns Hopkins University
2005
Johns Hopkins Medicine
2005
University of Cagliari
2001
Hypertension is a leading cause of stroke, heart disease, and kidney failure. The genetic basis blood pressure variation largely unknown but likely to involve genes that influence renal salt handling arterial vessel tone. Here we argue susceptibility hypertension ancestral differential due exposure selection pressures during the out-of-Africa expansion. most important was climate, which produced latitudinal cline in heat adaptation and, therefore, susceptibility. Consistent with this...
Abstract Objective Uric acid is the primary end product of purine metabolism. Increased serum uric levels have been associated with gouty arthritis as well a variety cardiovascular‐related phenotypes. This study was undertaken to investigate associations between and single‐nucleotide polymorphisms (SNPs). Methods A 500,000‐SNP genome‐wide association performed in cohort Old Order Amish from Lancaster County, Pennsylvania. Results The scan confirmed previously identified region on chromosome...
Abstract A three‐stage approach was undertaken using genome‐wide, case‐control, and case‐only association studies to identify genetic variants associated with heart failure mortality. In an Amish founder population ( n = 851), cardiac hypertrophy, a trait integral the adaptive response failure, found be heritable h 2 0.28, p 0.0002) GWAS revealed 21 candidate hypertrophy SNPs. case 1,610)‐control 463) study in unrelated Caucasians, one of SNPs (rs2207418, 8 × 10 −6 ), RR 1.85(1.25–2.73,...
J Clin Hypertens (Greenwich) . 2011;13:795–800. ©2011 Wiley Periodicals, Inc. Although the beneficial effects of lowering salt intake in hypertensive patients are widely appreciated, impact promoting dietary restriction for blood pressure (BP) reduction at population level remains controversial. The authors used 24‐hour ambulatory BP monitoring to characterize determinants systolic (SBP) response low‐salt a large, relatively healthy Amish population. Patients received high‐ and low‐sodium...
Abstract Background Systemic blood pressure, influenced by both genetic and environmental factors, is regulated via sympathetic nerve activity. We assessed the role of variation in three subunits neuromuscular nicotinic acetylcholine receptor positioned on chromosome 2q, a region showing replicated evidence linkage to pressure. Methods sequenced CHRNA1 , CHRND CHRNG 24 Amish subjects from Family Diabetes Study (AFDS) identified 20 variants. then performed association analysis non-redundant...
β 0 ‐thalassaemia intermedia (β ‐TI) describes patients who lack β‐globin synthesis yet manifest a non‐transfusion‐dependent form of β‐thalassaemia. Co‐inheritance α‐thalassaemia, certain variants the β‐like globin gene cluster and elevated fetal haemoglobin (HbF) production are all associated with ‐TI. However, mild phenotypes many ‐TI unexplained. Genetically determined HbF levels in β‐thalassaemia difficult to assess because erythrocytes containing (F cells) preferentially survive over...
STK39 encodes a serine threonine kinase, SPAK, which is part of multi-kinase network that determines renal Na+ reabsorption and blood pressure (BP) through regulation sodium-chloride co-transporters in the kidney. Variants within are associated with susceptibility to essential hypertension, constitutively active SPAK mice hypertensive hyperkalemic, similar familial hyperkalemic hyperkalemia humans. null hypotensive mimic Gitelman syndrome, rare monogenic salt wasting human disorder. Mice...